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 transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain NOC2L 26155 genome.wustl.edu 37 1 891523 891523 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015658.3 -1 validated p.D187N 1.000 19 0% 36 69.4% 62 51.6% benign(0.275) deleterious(0.01) neutral(0.435) NULL ATAD3B 83858 genome.wustl.edu 37 1 1416264 1416264 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031921.4 +1 provisional p.E154D 0.998 30 0% 33 21.2% 25 12% benign(0.032) tolerated(0.18) neutral(0.058) NULL SLC35E2 9906 genome.wustl.edu 37 1 1599838 1599838 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001110781.1 -1 validated p.D303G 0.998 77 1.3% 67 16.4% 9 11.1% probably_damaging(0.958) tolerated(0.35) neutral(0.422) HMMPfam_TPT,superfamily_Multidrug resistance efflux transporter EmrE CDK11A 728642 genome.wustl.edu 37 1 1647886 1647886 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024011.2 -1 reviewed p.H129 0.294 90 0% 101 14.9% 5 40% - - - NULL SLC35E2 9906 genome.wustl.edu 37 1 1666201 1666201 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182838.1 -1 validated p.R220 0.997 58 0% 63 15.9% 15 0% - - - NULL ACTRT2 140625 genome.wustl.edu 37 1 2938643 2938643 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080431.4 +1 reviewed p.F131 0.909 22 0% 20 20% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ACTRT2 140625 genome.wustl.edu 37 1 2938986 2938986 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080431.4 +1 reviewed p.D246N 0.998 31 0% 20 30% 0 - possibly_damaging(0.874) deleterious(0) deleterious(0.784) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ACTRT2 140625 genome.wustl.edu 37 1 2939133 2939133 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080431.4 +1 reviewed p.L295I 0.999 52 0% 31 41.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain PRDM16 63976 genome.wustl.edu 37 1 3319387 3319387 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022114.3 +1 reviewed p.E237K 1.000 21 0% 16 31.2% 0 - possibly_damaging(0.942) tolerated(1) neutral(0.387) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MEGF6 1953 genome.wustl.edu 37 1 3425194 3425194 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001409.3 -1 validated p.G530R 1.000 18 0% 21 33.3% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00181,superfamily_EGF/Laminin TPRG1L 127262 genome.wustl.edu 37 1 3545084 3545084 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182752.3 +1 validated p.E246K 1.000 26 0% 19 26.3% 32 28.1% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) NULL CCDC27 148870 genome.wustl.edu 37 1 3680308 3680308 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152492.2 +1 validated p.E454* 0.065 107 0% 111 34.2% 0 - - - - NULL CHD5 26038 genome.wustl.edu 37 1 6188584 6188584 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015557.1 -1 provisional p.K1235N 0.998 12 0% 15 46.7% 0 - benign(0.17) tolerated(0.08) neutral(0.316) NULL CHD5 26038 genome.wustl.edu 37 1 6206455 6206455 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015557.1 -1 provisional p.R540H 1.000 48 0% 38 15.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_CHROMO,superfamily_Chromodomain-like TAS1R1 80835 genome.wustl.edu 37 1 6630992 6630992 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138697.3 +1 reviewed p.G72D 1.000 579 0% 682 30.9% 2 50% unknown(0) deleterious(0.04) - superfamily_Periplasmic binding protein-like I CAMTA1 23261 genome.wustl.edu 37 1 7723933 7723933 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015215.1 +1 validated p.F442 1.000 65 1.5% 51 39.2% 0 - - - - NULL CAMTA1 23261 genome.wustl.edu 37 1 7724121 7724121 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015215.1 +1 validated p.A505V 0.347 59 0% 55 32.7% 0 - benign(0.014) deleterious(0.01) neutral(0.406) NULL PER3 8863 genome.wustl.edu 37 1 7869050 7869050 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016831.1 +1 reviewed p.L411I 1.000 70 0% 43 30.2% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL PER3 8863 genome.wustl.edu 37 1 7897173 7897173 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016831.1 +1 reviewed p.I1162M 0.996 199 0% 197 34.5% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL UTS2 10911 genome.wustl.edu 37 1 7912977 7912977 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021995.2 -1 reviewed p.I44M 0.000 192 0% 174 31% 0 - benign(0) tolerated(0.28) neutral(0.032) NULL UTS2 10911 genome.wustl.edu 37 1 7913394 7913394 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021995.2 -1 reviewed p.S33N 0.427 129 0% 92 10.9% 1 0% benign(0.418) deleterious(0) deleterious(0.580) NULL TNFRSF9 3604 genome.wustl.edu 37 1 7993313 7993313 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001561.4 -1 reviewed p.S196 0.000 71 0% 80 35% 0 - - - - NULL TNFRSF9 3604 genome.wustl.edu 37 1 7998818 7998818 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001561.4 -1 reviewed p.G57 0.012 204 0% 212 27.4% 0 - - - - HMMPfam_TNFR_c6,HMMSmart_TNFR,PatternScan_TNFR_NGFR_1 RERE 473 genome.wustl.edu 37 1 8421484 8421484 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042681.1 -1 reviewed p.D695N 1.000 51 0% 55 32.7% 16 37.5% unknown(0) deleterious(0.02) - HMMPfam_Atrophin-1 SLC25A33 84275 genome.wustl.edu 37 1 9642445 9642445 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032315.2 +1 validated p.Y284* 0.990 59 0% 44 18.2% 42 42.8% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr C1orf200 644997 genome.wustl.edu 37 1 9714360 9714360 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000377320 -1 known p.G45 0.006 61 0% 53 26.4% 0 - - - - NULL CLSTN1 22883 genome.wustl.edu 37 1 9793473 9793473 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009566.1 -1 validated p.E805* 0.978 62 0% 33 15.2% 72 1.3% - - - NULL KIF1B 23095 genome.wustl.edu 37 1 10363226 10363226 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_183416.3 +1 reviewed p.A661 1.000 209 0% 137 37.2% 2 0% - - - NULL KIF1B 23095 genome.wustl.edu 37 1 10363932 10363932 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_183416.3 +1 reviewed p.E897* 0.923 208 0% 187 26.7% 5 0% - - - NULL KIF1B 23095 genome.wustl.edu 37 1 10364406 10364406 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_183416.3 +1 reviewed p.N1055D 1.000 569 0% 463 34.6% 0 - possibly_damaging(0.776) tolerated(0.47) neutral(0.300) NULL KIF1B 23095 genome.wustl.edu 37 1 10434937 10434937 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015074.3 +1 reviewed p.L1662I 1.000 124 0% 128 10.2% 34 29.4% possibly_damaging(0.849) tolerated(0.07) deleterious(0.645) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like APITD1 378708 genome.wustl.edu 37 1 10500410 10500410 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198544.2 +1 reviewed p.A72 0.886 73 0% 73 24.7% 37 40.5% - - - superfamily_Histone-fold MASP2 10747 genome.wustl.edu 37 1 11087403 11087403 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006610.2 -1 reviewed p.A534T 1.000 354 0% 361 28.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases MASP2 10747 genome.wustl.edu 37 1 11097811 11097811 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006610.2 -1 reviewed p.A316D 0.305 40 0% 45 24.4% 0 - benign(0.019) tolerated(0.19) neutral(0.051) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain EXOSC10 5394 genome.wustl.edu 37 1 11147599 11147599 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001998.1 -1 validated p.S332Y 1.000 207 0.5% 231 26.4% 49 46.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_3_5_exonuc,HMMSmart_SM00474,superfamily_Ribonuclease H-like MTOR 2475 genome.wustl.edu 37 1 11206811 11206811 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004958.3 -1 reviewed p.I1536 1.000 94 0% 72 30.6% 11 72.7% - - - HMMPfam_FAT,superfamily_ARM-type_fold,superfamily_SSF48452 UBIAD1 29914 genome.wustl.edu 37 1 11346073 11346073 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013319.2 +1 reviewed p.R301Q 1.000 452 0% 492 33.1% 23 65.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_UbiA MTHFR 4524 genome.wustl.edu 37 1 11851348 11851348 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005957.4 -1 reviewed p.P556 1.000 45 0% 47 40.4% 9 33.3% - - - NULL CLCN6 1185 genome.wustl.edu 37 1 11883876 11883876 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001286.2 +1 reviewed p.F189S 1.000 132 0% 102 29.4% 0 - probably_damaging(0.998) tolerated(0.55) deleterious(0.481) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel VPS13D 55187 genome.wustl.edu 37 1 12317133 12317133 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015378.2 +1 reviewed p.A310 0.001 109 0% 126 31.7% 0 - - - - NULL VPS13D 55187 genome.wustl.edu 37 1 12338060 12338060 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015378.2 +1 reviewed p.R1472Q 1.000 279 0% 225 32.9% 1 0% probably_damaging(0.981) tolerated(0.59) neutral(0.430) NULL VPS13D 55187 genome.wustl.edu 37 1 12343196 12343196 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015378.2 +1 reviewed p.K1679N 0.959 452 0% 481 37.4% 2 50% benign(0.06) tolerated(0.43) neutral(0.018) NULL VPS13D 55187 genome.wustl.edu 37 1 12382644 12382644 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015378.2 +1 reviewed p.F2586L 1.000 188 0% 168 33.3% 0 - probably_damaging(0.958) tolerated(0.13) deleterious(0.654) NULL VPS13D 55187 genome.wustl.edu 37 1 12438521 12438521 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015378.2 +1 reviewed p.T3653A 0.412 121 0% 98 35.7% 1 100% benign(0.015) tolerated(0.46) neutral(0.013) NULL AADACL3 126767 genome.wustl.edu 37 1 12785212 12785212 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001103170.1 +1 validated p.K101T 0.000 394 0% 347 33.1% 0 - benign(0.389) tolerated(0.07) neutral(0.444) HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases PRAMEF1 65121 genome.wustl.edu 37 1 12855950 12855950 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023013.1 +1 provisional p.E410D 0.006 730 0% 717 27.9% 0 - benign(0.08) deleterious(0.01) neutral(0.411) superfamily_SSF52047 PRAMEF11 440560 genome.wustl.edu 37 1 12887406 12887406 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000331684 -1 known p.P151S 0.000 1152 0% 1380 33.2% 0 - benign(0.01) tolerated(0.05) neutral(0.346) superfamily_SSF52047 PRAMEF10 343071 genome.wustl.edu 37 1 12955534 12955534 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039361.3 -1 validated p.F49V 0.000 115 0% 114 49.1% 0 - benign(0.069) tolerated(0.42) neutral(0.018) NULL PRAMEF18 391003 genome.wustl.edu 37 1 13474910 13474910 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099850.1 -1 validated p.L407V 0.000 475 0% 390 18.7% 0 - possibly_damaging(0.744) tolerated(0.07) deleterious(0.592) superfamily_SSF52047 KAZ 23254 genome.wustl.edu 37 1 15287359 15287359 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201628.2 +1 validated p.E136* 1.000 22 0% 17 41.2% 11 0% - - - NULL DNAJC16 23341 genome.wustl.edu 37 1 15874785 15874785 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015291.2 +1 provisional p.K295N 0.992 131 0% 96 36.5% 3 33.3% possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) superfamily_Thioredoxin-like DNAJC16 23341 genome.wustl.edu 37 1 15888819 15888819 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015291.2 +1 provisional p.A446V 0.657 161 0% 173 33.5% 8 50% benign(0.121) tolerated(0.31) neutral(0.036) NULL AGMAT 79814 genome.wustl.edu 37 1 15905466 15905466 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024758.3 -1 validated p.A203V 1.000 36 0% 31 45.2% 5 0% benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_Arginase,superfamily_SSF52768 DDI2 84301 genome.wustl.edu 37 1 15957014 15957014 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032341.3 +1 provisional p.R155C 1.000 143 0% 173 31.2% 1 100% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL SPEN 23013 genome.wustl.edu 37 1 16200652 16200652 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000375753 +1 known p.E15* 1.000 144 0% 172 30.2% 0 - - - - NULL SPEN 23013 genome.wustl.edu 37 1 16247445 16247445 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015001.2 +1 reviewed p.T572 1.000 89 0% 73 23.3% 1 0% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 EPHA2 1969 genome.wustl.edu 37 1 16475362 16475362 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004431.3 -1 reviewed p.A112T 0.987 56 0% 39 15.4% 24 33.3% benign(0.048) tolerated(0.39) neutral(0.019) HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like NBPF1 55672 genome.wustl.edu 37 1 16905891 16905891 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017940.3 -1 predicted p.G533D 0.232 1094 0.1% 1004 6.5% 2 0% - - - NULL MFAP2 4237 genome.wustl.edu 37 1 17301829 17301829 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002403.3 -1 reviewed p.R128H 0.990 38 0% 39 46.2% 243 25.9% possibly_damaging(0.807) deleterious(0) deleterious(0.748) HMMPfam_MAGP PADI3 51702 genome.wustl.edu 37 1 17601154 17601154 + Missense_Mutation SNP C C T rs190222448 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016233.2 +1 reviewed p.R394W 0.937 61 0% 46 34.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAD,superfamily_SSF55909 IGSF21 84966 genome.wustl.edu 37 1 18691886 18691886 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032880.3 +1 validated p.R237Q 0.993 109 0% 134 32.1% 3 0% benign(0.074) tolerated(0.46) neutral(0.017) superfamily_SSF48726 PAX7 5081 genome.wustl.edu 37 1 19071355 19071355 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135254.1 +1 reviewed p.R484C 0.942 10 0.000 9 0.556 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAS1R2 80834 genome.wustl.edu 37 1 19166951 19166951 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152232.2 -1 validated p.R554 0.731 58 0% 78 29.5% 0 - - - - NULL HTR6 3362 genome.wustl.edu 37 1 19992562 19992562 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000871.1 +1 provisional p.D106N 1.000 95 0% 67 38.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OTUD3 23252 genome.wustl.edu 37 1 20224099 20224099 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015207.1 +1 validated p.D184N 1.000 105 0% 116 33.6% 0 - possibly_damaging(0.892) tolerated(0.62) neutral(0.355) superfamily_SSF54001 PLA2G5 5322 genome.wustl.edu 37 1 20416366 20416366 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000929.2 +1 reviewed p.F90 0.000 51 0% 53 35.8% 1 0% - - - HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2 PLA2G2D 26279 genome.wustl.edu 37 1 20440660 20440660 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012400.2 -1 provisional p.R129* 0.000 34 0% 32 21.9% 1 0% - - - HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2 PLA2G2C 391013 genome.wustl.edu 37 1 20499297 20499297 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000429261 -1 known p.A84V 0.007 72 0% 63 25.4% 0 - - - - HMMPfam_Phospholip_A2_1,HMMSmart_SM00085,superfamily_Phospholipase A2 PLA2 PINK1 65018 genome.wustl.edu 37 1 20964487 20964487 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032409.2 +1 reviewed p.Q180 0.181 93 0% 80 37.5% 33 39.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) DDOST 1650 genome.wustl.edu 37 1 20982214 20982214 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005216.4 -1 reviewed p.T154 0.131 191 0% 221 23.5% 489 38% - - - HMMPfam_DDOST_48kD HP1BP3 50809 genome.wustl.edu 37 1 21091910 21091910 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016287.3 -1 validated p.Y284D 1.000 204 0% 157 26.8% 20 30% probably_damaging(0.999) deleterious(0) deleterious(0.935) "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" USP48 84196 genome.wustl.edu 37 1 22041927 22041927 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032236.5 -1 reviewed p.E640* 1.000 79 0% 66 36.4% 8 0% - - - NULL HSPG2 3339 genome.wustl.edu 37 1 22207931 22207931 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005529.5 -1 reviewed p.R553* 0.982 63 0% 46 26.1% 10 0% - - - NULL EPHA8 2046 genome.wustl.edu 37 1 22923940 22923940 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020526.3 +1 reviewed p.R634M 1.000 25 0% 18 38.9% 0 - probably_damaging(0.996) tolerated(0.18) deleterious(0.518) superfamily_Kinase_like C1QA 712 genome.wustl.edu 37 1 22964130 22964130 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015991.2 +1 reviewed p.W7C 1.000 37 0% 27 14.8% 39 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C1QB 713 genome.wustl.edu 37 1 22986015 22986015 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000491.3 +1 reviewed p.I22 0.000 197 0% 169 29.6% 200 0% - - - NULL LUZP1 7798 genome.wustl.edu 37 1 23418970 23418970 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142546.1 -1 reviewed p.P595 0.000 362 0% 427 35.8% 6 33.3% - - - NULL PITHD1 57095 genome.wustl.edu 37 1 24112859 24112859 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020362.4 +1 validated p.F160 1.000 52 0% 62 24.2% 28 46.4% - - - HMMPfam_DUF1000 IL22RA1 58985 genome.wustl.edu 37 1 24447366 24447366 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021258.2 -1 reviewed p.D552Y 0.004 90 0% 86 20.9% 2 0% possibly_damaging(0.66) deleterious(0) deleterious(0.677) NULL GRHL3 57822 genome.wustl.edu 37 1 24664219 24664219 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021180.2 +1 reviewed p.P265 0.003 54 0% 52 28.8% 0 - - - - HMMPfam_CP2 C1orf201 90529 genome.wustl.edu 37 1 24727861 24727861 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000437986 -1 known p.Q6H 0.001 106 0% 81 23.5% 5 60% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL NIPAL3 57185 genome.wustl.edu 37 1 24746101 24746101 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020448.4 +1 validated p.A22T 0.000 36 0% 31 41.9% 12 58.3% benign(0) tolerated(0.3) neutral(0.029) NULL NIPAL3 57185 genome.wustl.edu 37 1 24768670 24768670 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020448.4 +1 validated p.F96 0.976 85 0% 63 33.3% 4 75% - - - HMMPfam_DUF803 C1orf63 57035 genome.wustl.edu 37 1 25570093 25570093 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020317.3 -1 validated p.R235Q 0.639 127 0% 97 37.1% 14 28.5% possibly_damaging(0.581) deleterious(0.05) deleterious(0.545) NULL RHCE 6006 genome.wustl.edu 37 1 25718594 25718594 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020485.3 -1 reviewed p.F175 0.997 225 0% 220 30.9% 1 0% - - - HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) TMEM57 55219 genome.wustl.edu 37 1 25785170 25785170 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018202.4 +1 validated p.S314* 1.000 508 0% 473 30.9% 13 7.6% - - - HMMPfam_Macoilin MAN1C1 57134 genome.wustl.edu 37 1 26109103 26109103 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020379.2 +1 validated p.A560T 0.116 71 0% 71 29.6% 4 0% benign(0) tolerated(0.47) neutral(0.011) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 SEPN1 57190 genome.wustl.edu 37 1 26136208 26136208 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000354177 +1 known p.D269N 0.544 36 0% 33 30.3% 21 33.3% benign(0.01) tolerated(0.84) neutral(0.001) NULL SEPN1 57190 genome.wustl.edu 37 1 26140411 26140411 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000354177 +1 known p.S442L 1.000 100 0% 79 26.6% 28 14.2% benign(0.002) tolerated(0.4) neutral(0.016) NULL CATSPER4 378807 genome.wustl.edu 37 1 26517128 26517128 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198137.1 +1 validated p.N4H 0.000 12 0% 15 26.7% 0 - possibly_damaging(0.69) deleterious(0.01) deleterious(0.653) NULL SH3BGRL3 83442 genome.wustl.edu 37 1 26607563 26607563 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031286.3 +1 validated p.F77 1.000 38 0% 18 61.1% 879 26.3% - - - HMMPfam_SH3BGR,superfamily_Thioredoxin-like UBXN11 91544 genome.wustl.edu 37 1 26610676 26610676 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_183008.2 -1 reviewed p.G345D 1.000 156 0% 105 32.4% 49 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF683 257101 genome.wustl.edu 37 1 26691430 26691430 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114759.1 -1 validated p.P203S 0.025 63 0% 63 27% 2 0% unknown(0) deleterious(0) - NULL ZNF683 257101 genome.wustl.edu 37 1 26691694 26691694 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114759.1 -1 validated p.A115T 0.000 20 0% 10 60% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL ARID1A 8289 genome.wustl.edu 37 1 27058068 27058068 + Nonsense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006015.4 +1 reviewed p.Y592* 0.997 264 0% 199 28.1% 10 0% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27106354 27106354 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006015.4 +1 reviewed p.R1989* 1.000 282 0.4% 263 31.6% 32 75% - - - NULL NR0B2 8431 genome.wustl.edu 37 1 27240179 27240179 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021969.2 -1 reviewed p.R85W 0.180 45 2.2% 48 22.9% 0 - probably_damaging(0.985) deleterious(0.02) deleterious(0.815) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor C1orf172 126695 genome.wustl.edu 37 1 27278385 27278385 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152365.2 -1 validated p.D163N 1.000 18 0% 30 36.7% 18 16.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LOC440577 440577 genome.wustl.edu 37 1 27533676 27533676 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_496355.5 +1 model p.T82S 0.987 115 0% 119 25.2% 0 - - - - HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain AHDC1 27245 genome.wustl.edu 37 1 27874532 27874532 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029882.2 -1 validated p.C1365 1.000 30 0% 16 37.5% 25 40% - - - NULL OPRD1 4985 genome.wustl.edu 37 1 29185812 29185812 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000911.3 +1 validated p.R192W 1.000 41 0% 67 25.4% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like EPB41 2035 genome.wustl.edu 37 1 29342238 29342238 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203343.2 +1 reviewed p.F253L 1.000 132 0% 123 13% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_FERM_N,PatternScan_FERM_1,HMMSmart_B41,superfamily_SSF54236 EPB41 2035 genome.wustl.edu 37 1 29365900 29365900 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203343.2 +1 reviewed p.R498H 1.000 114 0% 128 37.5% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FA,superfamily_SSF50729 MECR 51102 genome.wustl.edu 37 1 29528456 29528456 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016011.2 -1 validated p.K252R 1.000 339 0% 356 35.1% 15 6.6% possibly_damaging(0.546) deleterious(0.03) deleterious(0.550) HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains SPOCD1 90853 genome.wustl.edu 37 1 32256441 32256442 + Frame_Shift_Del DEL GT GT - novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144569.4 -1 provisional p.H1138fs 0.999:0.997 - - - - - - - - - NULL KPNA6 23633 genome.wustl.edu 37 1 32625024 32625024 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012316.4 +1 reviewed p.T150 0.576 177 0% 184 29.9% 5 40% - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat TXLNA 200081 genome.wustl.edu 37 1 32650159 32650159 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175852.3 +1 validated p.N180T 1.000 119 0% 120 32.5% 9 22.2% possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) HMMPfam_Taxilin LCK 3932 genome.wustl.edu 37 1 32740586 32740586 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000373564 +1 known p.V118 0.778 146 0% 174 33.3% 0 - - - - superfamily_SH3 TSSK3 81629 genome.wustl.edu 37 1 32828395 32828395 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052841.3 +1 reviewed p.K31N 1.000 220 0% 182 18.7% 0 - benign(0.429) tolerated(0.25) neutral(0.177) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase ADC 113451 genome.wustl.edu 37 1 33585656 33585656 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052998.2 +1 validated p.R419Q 0.068 127 0% 134 35.1% 9 0% benign(0.002) tolerated(0.87) neutral(0.001) superfamily_Alanine racemase C-terminal domain-like ZSCAN20 7579 genome.wustl.edu 37 1 33955121 33955121 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145238.3 +1 validated p.A229T 0.957 82 0% 61 13.1% 0 - benign(0) tolerated(0.73) neutral(0.002) NULL ZSCAN20 7579 genome.wustl.edu 37 1 33960385 33960385 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145238.3 +1 validated p.R814I 0.992 688 0% 614 28.5% 1 0% benign(0.203) deleterious(0.01) neutral(0.425) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CSMD2 114784 genome.wustl.edu 37 1 34076780 34076780 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052896.3 -1 validated p.P2028 0.108 121 0% 114 28.9% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD2 114784 genome.wustl.edu 37 1 34102148 34102148 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052896.3 -1 validated p.P1554L 1.000 56 0% 49 32.7% 0 - probably_damaging(0.998) tolerated(0.81) deleterious(0.475) superfamily_Spermadhesin CUB domain CSMD2 114784 genome.wustl.edu 37 1 34204922 34204922 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052896.3 -1 validated p.N689 0.265 86 0% 63 23.8% 0 - - - - superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain HMGB4 127540 genome.wustl.edu 37 1 34329990 34329990 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145205.4 +1 validated p.L66 0.047 133 0% 122 18% 0 - - - - HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box CSMD2 114784 genome.wustl.edu 37 1 34383824 34383824 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052896.3 -1 validated p.N224I 1.000 64 0% 48 20.8% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ZMYM6 9204 genome.wustl.edu 37 1 35453310 35453310 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007167.3 -1 validated p.E1125K 0.997 13 0% 15 26.7% 3 33.3% benign(0) tolerated(0.62) neutral(0.004) NULL ZMYM1 79830 genome.wustl.edu 37 1 35579264 35579264 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024772.3 +1 validated p.F611L 1.000 82 0% 94 25.5% 3 0% probably_damaging(0.987) tolerated(0.62) neutral(0.441) NULL ZMYM1 79830 genome.wustl.edu 37 1 35580326 35580326 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024772.3 +1 validated p.I965M 0.995 73 0% 76 31.6% 0 - benign(0.417) tolerated(0.08) neutral(0.435) NULL ZMYM4 9202 genome.wustl.edu 37 1 35824900 35824900 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005095.2 +1 validated p.D154Y 1.000 105 0% 93 31.2% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZMYM4 9202 genome.wustl.edu 37 1 35824975 35824975 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005095.2 +1 validated p.R179C 1.000 108 0% 85 30.6% 5 20% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL ZMYM4 9202 genome.wustl.edu 37 1 35855612 35855612 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005095.2 +1 validated p.E834K 0.999 120 0% 94 37.2% 8 12.5% benign(0.138) tolerated(0.15) neutral(0.253) HMMPfam_zf-FCS,HMMSmart_SM00746 NCDN 23154 genome.wustl.edu 37 1 36024804 36024804 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001014839.1 +1 reviewed p.R44C 1.000 50 0% 39 41% 4 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Neurochondrin TFAP2E 339488 genome.wustl.edu 37 1 36055544 36055544 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178548.3 +1 validated p.N267H 1.000 156 0% 133 28.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TF_AP-2 EIF2C4 192670 genome.wustl.edu 37 1 36297437 36297437 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017629.2 +1 reviewed p.R341* 1.000 193 0% 121 28.9% 0 - - - - HMMPfam_PAZ,superfamily_PAZ domain EIF2C1 26523 genome.wustl.edu 37 1 36354152 36354152 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012199.2 +1 reviewed p.I50 0.998 237 0% 213 30% 1 100% - - - superfamily_PAZ domain THRAP3 9967 genome.wustl.edu 37 1 36755130 36755130 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005119.3 +1 validated p.R504W 0.999 343 0% 394 34.3% 36 41.6% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL STK40 83931 genome.wustl.edu 37 1 36820009 36820009 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032017.1 -1 provisional p.I193 0.915 86 0% 61 36.1% 20 35% - - - HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase STK40 83931 genome.wustl.edu 37 1 36826893 36826893 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032017.1 -1 provisional p.S14L 1.000 111 0% 111 28.8% 12 16.6% benign(0.021) tolerated(0.26) neutral(0.035) NULL GRIK3 2899 genome.wustl.edu 37 1 37324798 37324798 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000831.3 -1 reviewed p.R339W 1.000 54 0% 46 34.8% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_ANF_receptor,superfamily_SSF53822 INPP5B 3633 genome.wustl.edu 37 1 38328018 38328018 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005540.2 -1 reviewed p.F904C 1.000 91 0% 95 38.9% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00324,superfamily_GTPase activation domain GAP SF3A3 10946 genome.wustl.edu 37 1 38435314 38435314 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006802.2 -1 reviewed p.S367R 1.000 300 0% 305 25.6% 85 32.9% probably_damaging(0.978) tolerated(0.48) neutral(0.431) NULL UTP11L 51118 genome.wustl.edu 37 1 38489295 38489295 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016037.3 +1 validated p.R253C 1.000 90 0% 102 30.4% 38 60.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Utp11 POU3F1 5453 genome.wustl.edu 37 1 38511642 38511642 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002699.3 -1 validated p.F258 1.000 31 0% 23 52.2% 0 - - - - HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA RRAGC 64121 genome.wustl.edu 37 1 39321416 39321416 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022157.2 -1 provisional p.D202G 1.000 271 0% 221 24% 19 63.1% possibly_damaging(0.942) deleterious(0) deleterious(0.832) HMMPfam_Gtr1_RagA,superfamily_SSF52540 GJA9 81025 genome.wustl.edu 37 1 39340690 39340690 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030772.3 -1 provisional p.E361* 0.994 120 0% 131 36.6% 0 - - - - NULL GJA9 81025 genome.wustl.edu 37 1 39341673 39341673 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030772.3 -1 provisional p.R33Q 1.000 408 0% 345 31.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Connexin MACF1 23499 genome.wustl.edu 37 1 39776096 39776096 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000372925 +1 known p.E171* 1.000 111 0% 116 34.5% 0 - probably_damaging(0.995) tolerated(0.13) deleterious(0.710) superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39801805 39801805 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033044.2 +1 reviewed p.R1622I 0.045 293 0% 231 33.8% 0 - possibly_damaging(0.923) - - NULL MACF1 23499 genome.wustl.edu 37 1 39812692 39812692 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033044.2 +1 reviewed p.A1982V 0.944 234 0% 152 28.9% 0 - possibly_damaging(0.659) - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MACF1 23499 genome.wustl.edu 37 1 39827282 39827282 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033044.2 +1 reviewed p.K2675T 0.998 195 0% 213 34.3% 1 0% possibly_damaging(0.501) tolerated(0.27) neutral(0.201) HMMSmart_SPEC KIAA0754 643314 genome.wustl.edu 37 1 39877214 39877214 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015038.1 +1 predicted p.D426V 0.001 298 0% 284 32.4% 2 0% unknown(0) deleterious(0.02) - NULL MACF1 23499 genome.wustl.edu 37 1 39889725 39889725 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033044.2 +1 reviewed p.R3832Q 1.000 248 0% 290 33.8% 3 66.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MACF1 23499 genome.wustl.edu 37 1 39896382 39896382 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000372925 +1 known p.E2655* 1.000 54 0% 43 18.6% 10 60% probably_damaging(0.998) tolerated(0.3) deleterious(0.503) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39906689 39906689 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000372925 +1 known p.D3099N 1.000 129 0% 95 27.4% 12 50% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39913518 39913518 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033044.2 +1 reviewed p.R5082Q 1.000 191 0% 142 18.3% 20 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MACF1 23499 genome.wustl.edu 37 1 39926400 39926400 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033044.2 +1 reviewed p.R5596C 1.000 119 0% 120 27.5% 64 31.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 MACF1 23499 genome.wustl.edu 37 1 39927585 39927585 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033044.2 +1 reviewed p.A5628V 1.000 294 0.3% 276 31.5% 42 40.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 OXCT2 64064 genome.wustl.edu 37 1 40235541 40235541 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022120.1 -1 provisional p.V463M 0.843 124 0% 119 12.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CoA_trans,superfamily_SSF100950 CAP1 10487 genome.wustl.edu 37 1 40531962 40531962 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105530.1 +1 reviewed p.F200L 1.000 80 0% 63 25.4% 163 40.4% benign(0.023) tolerated(0.06) neutral(0.324) HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP SMAP2 64744 genome.wustl.edu 37 1 40875448 40875448 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022733.1 +1 provisional p.R115* 1.000 119 0% 102 27.5% 6 0% - - - HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain ZNF643 65243 genome.wustl.edu 37 1 40929140 40929140 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000411995 +1 known p.E468* 0.999 209 0% 239 26.4% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF642 339559 genome.wustl.edu 37 1 40960983 40960983 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198494.2 +1 validated p.K278T 0.983 120 0% 149 32.2% 1 0% possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF642 339559 genome.wustl.edu 37 1 40961389 40961389 + Silent SNP C C T rs187272521 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198494.2 +1 validated p.C413 0.040 123 0% 158 32.9% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DEM1 64789 genome.wustl.edu 37 1 40980305 40980305 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022774.1 +1 provisional p.D30G 0.986 163 0% 162 34.6% 5 60% benign(0.029) deleterious(0.04) neutral(0.350) NULL DEM1 64789 genome.wustl.edu 37 1 40981073 40981073 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022774.1 +1 provisional p.V286A 0.945 209 0% 155 34.8% 3 0% benign(0) tolerated(1) - HMMPfam_Morph_protein1 ZNF684 127396 genome.wustl.edu 37 1 41006374 41006374 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152373.3 +1 validated p.L44 0.950 147 0% 175 27.4% 5 40% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF684 127396 genome.wustl.edu 37 1 41013104 41013104 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152373.3 +1 validated p.L370R 0.156 136 0% 177 36.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CTPS 1503 genome.wustl.edu 37 1 41454346 41454346 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001905.2 +1 validated p.E173D 1.000 210 0% 232 24.6% 17 58.8% benign(0.001) tolerated(0.5) neutral(0.010) HMMPfam_CTP_synth_N,superfamily_SSF52540 SCMH1 22955 genome.wustl.edu 37 1 41579033 41579033 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031694.2 -1 validated p.R213C 1.000 243 0% 197 36.5% 10 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT HIVEP3 59269 genome.wustl.edu 37 1 41990565 41990565 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024503.3 -1 validated p.E1742* 1.000 38 0% 28 35.7% 3 0% - - - NULL HIVEP3 59269 genome.wustl.edu 37 1 42048309 42048309 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024503.3 -1 validated p.S720R 1.000 149 0% 110 30% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HIVEP3 59269 genome.wustl.edu 37 1 42048938 42048938 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024503.3 -1 validated p.S511P 0.798 100 0% 72 26.4% 1 0% benign(0.001) tolerated(0.38) neutral(0.018) NULL GUCA2A 2980 genome.wustl.edu 37 1 42629141 42629141 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033553.2 -1 validated p.P72 0.000 35 0% 37 32.4% 0 - - - - HMMPfam_Guanylin,superfamily_Proguanylin RIMKLA 284716 genome.wustl.edu 37 1 42880437 42880437 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173642.3 +1 validated p.K323T 1.000 152 0% 160 30.6% 2 50% benign(0) tolerated(0.43) neutral(0.013) NULL CCDC30 728621 genome.wustl.edu 37 1 43004960 43004960 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080850.2 +1 validated p.E78D 1.000 307 0% 226 22.1% 0 - possibly_damaging(0.741) deleterious(0) deleterious(0.716) NULL CCDC30 728621 genome.wustl.edu 37 1 43032110 43032110 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080850.2 +1 validated p.K273N 1.000 187 0% 194 33.5% 1 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL PPIH 10465 genome.wustl.edu 37 1 43130577 43130577 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006347.3 +1 reviewed p.A96E 1.000 102 0% 90 27.8% 86 33.7% benign(0) tolerated(1) - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like LEPRE1 64175 genome.wustl.edu 37 1 43213442 43213442 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022356.3 -1 reviewed p.F622 0.707 155 0% 133 31.6% 71 9.8% - - - HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 ERMAP 114625 genome.wustl.edu 37 1 43308309 43308309 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017922.1 +1 reviewed p.F278 0.000 241 0% 236 11.4% 3 0% - - - HMMSmart_PRY ZNF691 51058 genome.wustl.edu 37 1 43317577 43317577 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000372503 +1 known p.L298 0.004 46 0% 48 43.8% 8 37.5% - - - superfamily_C2H2 and C2HC zinc fingers EBNA1BP2 10969 genome.wustl.edu 37 1 43634651 43634651 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006824.2 -1 validated p.K166Q 1.000 549 0% 471 28.9% 201 46.7% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Ebp2 WDR65 149465 genome.wustl.edu 37 1 43675431 43675431 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152498.3 +1 validated p.S591 0.392 132 0% 170 34.7% 0 - - - - superfamily_WD40_like ELOVL1 64834 genome.wustl.edu 37 1 43830011 43830011 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022821.2 -1 validated p.M201T 1.000 202 0% 237 31.2% 255 42.3% benign(0.245) deleterious(0) deleterious(0.470) HMMPfam_ELO SZT2 23334 genome.wustl.edu 37 1 43908279 43908279 + Missense_Mutation SNP G G A rs192016258 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015284.2 +1 predicted p.R1815Q 0.968 288 0% 223 31.4% 6 16.6% probably_damaging(0.995) tolerated(0.81) neutral(0.458) NULL SZT2 23334 genome.wustl.edu 37 1 43912750 43912750 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015284.2 +1 predicted p.R2167Q 1.000 27 0% 25 24% 3 66.6% probably_damaging(1) tolerated(0.43) deleterious(0.513) NULL PTPRF 5792 genome.wustl.edu 37 1 44083138 44083138 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002840.3 +1 reviewed p.F1365S 1.000 146 0% 119 27.7% 152 44% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II ST3GAL3 6487 genome.wustl.edu 37 1 44280571 44280571 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174963.2 +1 reviewed p.R74W 0.998 587 0% 426 27% 3 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ST3GAL3 6487 genome.wustl.edu 37 1 44386140 44386140 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174963.2 +1 reviewed p.R339Q 1.000 115 0% 182 13.7% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_29 B4GALT2 8704 genome.wustl.edu 37 1 44456098 44456098 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005417.1 +1 reviewed p.P366L 0.966 136 0% 112 41.1% 98 53% benign(0.009) deleterious(0.02) neutral(0.384) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases CCDC24 149473 genome.wustl.edu 37 1 44461274 44461274 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152499.1 +1 provisional p.R185H 0.863 46 0% 32 28.1% 36 50% probably_damaging(0.98) tolerated(0.42) neutral(0.438) NULL SLC6A9 6536 genome.wustl.edu 37 1 44466899 44466899 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201649.2 -1 validated p.K497N 1.000 223 0% 171 29.8% 23 43.4% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_SNF KIF2C 11004 genome.wustl.edu 37 1 45225001 45225001 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006845.3 +1 validated p.D450N 0.981 41 0% 31 35.5% 32 43.7% benign(0) tolerated(0.28) neutral(0.032) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases SNORD46 94161 genome.wustl.edu 37 1 45242180 45242180 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_000024.2 +1 provisional NULL 0.008 117 0% 156 30.8% 0 - - - - - RPS8 6202 genome.wustl.edu 37 1 45243675 45243675 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012.1 +1 reviewed p.P131S 1.000 74 0% 69 31.9% 2761 39.1% benign(0.001) tolerated(0.26) neutral(0.034) HMMPfam_Ribosomal_S8e HECTD3 79654 genome.wustl.edu 37 1 45472633 45472633 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024602.5 -1 validated p.I537 1.000 85 0% 105 39% 18 33.3% - - - HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain ZSWIM5 57643 genome.wustl.edu 37 1 45504721 45504721 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020883.1 -1 validated p.T594I 1.000 73 0% 90 31.1% 0 - possibly_damaging(0.675) tolerated(0.26) neutral(0.273) NULL ZSWIM5 57643 genome.wustl.edu 37 1 45506126 45506126 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020883.1 -1 validated p.I565S 1.000 65 0% 62 29% 0 - probably_damaging(0.969) deleterious(0) deleterious(0.856) NULL HPDL 84842 genome.wustl.edu 37 1 45793425 45793425 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032756.2 +1 validated p.E202G 0.992 58 0% 60 28.3% 3 0% benign(0.141) tolerated(0.11) neutral(0.284) superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase TESK2 10420 genome.wustl.edu 37 1 45923441 45923441 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007170.2 -1 reviewed p.R6L 1.000 352 0% 343 30.6% 0 - probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL AKR1A1 10327 genome.wustl.edu 37 1 46035586 46035586 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006066.2 +1 reviewed p.R312 1.000 133 0% 145 31.7% 226 50.8% - - - superfamily_NAD(P)-linked oxidoreductase IPP 3652 genome.wustl.edu 37 1 46193465 46193465 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005897.2 -1 reviewed p.Y296H 1.000 166 0% 144 30.6% 2 50% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain IPP 3652 genome.wustl.edu 37 1 46206618 46206618 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005897.2 -1 reviewed p.R227* 1.000 138 0% 129 34.9% 7 28.5% - - - HMMPfam_BACK MAST2 23139 genome.wustl.edu 37 1 46487717 46487717 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015112.2 +1 validated p.I462 1.000 199 0% 199 29.1% 8 62.5% - - - HMMPfam_DUF1908 MAST2 23139 genome.wustl.edu 37 1 46500561 46500561 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015112.2 +1 validated p.S1407L 1.000 194 0% 133 33.8% 28 25% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL PIK3R3 8503 genome.wustl.edu 37 1 46521556 46521556 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114172.1 -1 validated p.Q284H 1.000 167 0% 140 27.9% 29 37.9% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL RAD54L 8438 genome.wustl.edu 37 1 46740345 46740345 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142548.1 +1 reviewed p.R609* 1.000 281 0% 293 27.6% 5 0% - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 NSUN4 387338 genome.wustl.edu 37 1 46827307 46827307 + Nonsense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199044.2 +1 validated p.L315* 1.000 246 0% 270 32.2% 17 52.9% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases DMBX1 127343 genome.wustl.edu 37 1 46976279 46976279 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_147192.2 +1 reviewed p.R101C 1.000 73 0% 45 31.1% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like KIAA0494 9813 genome.wustl.edu 37 1 47144187 47144187 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014774.2 -1 validated p.S478 0.116 216 0% 200 17% 22 9% - - - NULL STIL 6491 genome.wustl.edu 37 1 47746208 47746208 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001048166.1 -1 reviewed p.S641* 0.001 447 0% 363 33.6% 3 0% - - - NULL STIL 6491 genome.wustl.edu 37 1 47767909 47767909 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001048166.1 -1 reviewed p.E88K 1.000 47 0% 39 35.9% 2 50% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL STIL 6491 genome.wustl.edu 37 1 47767983 47767983 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001048166.1 -1 reviewed p.R63Q 0.976 73 0% 73 32.9% 1 100% benign(0.062) deleterious(0) neutral(0.449) NULL SLC5A9 200010 genome.wustl.edu 37 1 48690420 48690420 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135181.1 +1 validated p.T63A 1.000 179 0% 165 29.7% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL BEND5 79656 genome.wustl.edu 37 1 49202000 49202000 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024603.2 -1 validated p.N340S 1.000 429 0.2% 366 28.4% 3 33.3% possibly_damaging(0.794) tolerated(0.19) neutral(0.347) HMMPfam_BEN FAF1 11124 genome.wustl.edu 37 1 51005293 51005293 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007051.2 -1 reviewed p.S459* 1.000 42 0% 36 36.1% 35 0% - - - HMMSmart_SM00594 FAF1 11124 genome.wustl.edu 37 1 51323642 51323642 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007051.2 -1 reviewed p.E25K 1.000 202 0% 160 36.2% 6 0% unknown(0) deleterious(0.01) - NULL CDKN2C 1031 genome.wustl.edu 37 1 51436162 51436162 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001262.2 +1 reviewed p.A41V 1.000 81 0% 48 33.3% 22 36.3% possibly_damaging(0.945) deleterious(0.04) deleterious(0.738) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CDKN2C 1031 genome.wustl.edu 37 1 51439631 51439631 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001262.2 +1 reviewed p.K66E 1.000 91 0% 63 31.7% 8 62.5% benign(0.034) tolerated(0.5) neutral(0.012) HMMPfam_Ank,superfamily_Ankyrin repeat NRD1 4898 genome.wustl.edu 37 1 52256640 52256640 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002525.2 -1 validated p.I1063V 1.000 88 0% 63 22.2% 133 42.1% possibly_damaging(0.896) deleterious(0.01) deleterious(0.759) HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd NRD1 4898 genome.wustl.edu 37 1 52269502 52269502 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002525.2 -1 validated p.F834S 1.000 113 0.9% 122 33.6% 71 40.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Metalloenz_metal-bd NRD1 4898 genome.wustl.edu 37 1 52275032 52275032 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002525.2 -1 validated p.E717K 0.977 300 0% 297 31% 50 38% benign(0.01) tolerated(0.48) neutral(0.011) NULL NRD1 4898 genome.wustl.edu 37 1 52293535 52293535 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002525.2 -1 validated p.A359 0.862 117 0% 73 27.4% 33 39.3% - - - superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16 ZFYVE9 9372 genome.wustl.edu 37 1 52703621 52703621 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004799.2 +1 reviewed p.M178V 0.993 163 0% 135 22.2% 1 0% benign(0) tolerated(0.24) neutral(0.037) NULL PRPF38A 84950 genome.wustl.edu 37 1 52870538 52870538 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032864.3 +1 validated p.C39* 0.998 90 0% 77 28.6% 28 53.5% - - - HMMPfam_PRP38 ZYG11B 79699 genome.wustl.edu 37 1 53236989 53236989 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024646.2 +1 validated p.R165Q 1.000 159 0.6% 165 38.8% 0 - probably_damaging(0.998) tolerated(0.19) deleterious(0.524) superfamily_ARM repeat,superfamily_RNI-like ZYG11B 79699 genome.wustl.edu 37 1 53237393 53237393 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024646.2 +1 validated p.L300V 1.000 225 0% 190 23.7% 6 66.6% possibly_damaging(0.799) tolerated(0.34) neutral(0.324) superfamily_ARM repeat SCP2 6342 genome.wustl.edu 37 1 53407488 53407488 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002979.3 +1 reviewed p.E30D 0.775 148 0% 137 30.7% 6 33.3% benign(0.001) tolerated(0.06) neutral(0.323) HMMPfam_Thiolase_N,superfamily_Thiolase-like PODN 127435 genome.wustl.edu 37 1 53537224 53537224 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153703.3 +1 validated p.K158N 1.000 14 0% 14 28.6% 8 0% benign(0.116) tolerated(0.29) neutral(0.038) superfamily_SSF52058 PODN 127435 genome.wustl.edu 37 1 53546492 53546492 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153703.3 +1 validated p.S583R 0.299 32 0% 30 26.7% 6 0% possibly_damaging(0.891) deleterious(0.03) deleterious(0.715) HMMPfam_LRR_1,superfamily_SSF52047 DIO1 1733 genome.wustl.edu 37 1 54360102 54360102 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039715.1 +1 reviewed p.F73 0.920 224 0% 226 31% 0 - - - - HMMPfam_T4_deiodinase LRRC42 115353 genome.wustl.edu 37 1 54418120 54418120 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052940.3 +1 provisional p.L150F 1.000 93 0% 127 25.2% 35 60% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52047 TCEANC2 127428 genome.wustl.edu 37 1 54562073 54562073 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153035.1 +1 predicted p.R185Q 0.986 89 0% 76 28.9% 2 50% benign(0.014) tolerated(0.13) neutral(0.253) NULL FAM151A 338094 genome.wustl.edu 37 1 55075025 55075025 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176782.2 -1 validated p.A558 1.000 54 0% 83 32.5% 6 33.3% - - - NULL HEATR8 374977 genome.wustl.edu 37 1 55119197 55119197 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039464.2 +1 validated p.A200S 0.002 383 0% 411 32.8% 0 - benign(0.253) deleterious(0.02) neutral(0.409) NULL HEATR8 374977 genome.wustl.edu 37 1 55148422 55148422 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039464.2 +1 validated p.E825D 1.000 100 0% 72 31.9% 0 - benign(0.008) tolerated(0.33) neutral(0.024) superfamily_ARM repeat TMEM61 199964 genome.wustl.edu 37 1 55452088 55452088 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182532.1 +1 provisional p.T112P 0.971 87 0% 74 39.2% 9 33.3% probably_damaging(0.996) - - NULL PRKAA2 5563 genome.wustl.edu 37 1 57140116 57140116 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006252.3 +1 validated p.R53C 1.000 323 0% 293 28% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PRKAA2 5563 genome.wustl.edu 37 1 57171819 57171819 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006252.3 +1 validated p.Y450H 1.000 121 0% 100 29% 1 100% benign(0) tolerated(0.53) neutral(0.007) NULL C8A 731 genome.wustl.edu 37 1 57333291 57333291 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000562.2 +1 reviewed p.R29 0.741 173 0% 150 26.7% 0 - - - - NULL TM2D1 83941 genome.wustl.edu 37 1 62190631 62190631 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032027.2 -1 reviewed p.G54 1.000 35 0% 39 33.3% 20 25% - - - NULL L1TD1 54596 genome.wustl.edu 37 1 62672398 62672398 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019079.4 +1 validated p.T33I 0.001 22 0% 21 23.8% 0 - unknown(0) deleterious(0) - NULL KANK4 163782 genome.wustl.edu 37 1 62737179 62737179 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181712.4 -1 validated p.K661N 1.000 153 0% 156 30.1% 5 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KANK4 163782 genome.wustl.edu 37 1 62739866 62739866 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181712.4 -1 validated p.E304K 0.998 70 0% 92 29.3% 0 - possibly_damaging(0.918) tolerated(0.1) deleterious(0.655) NULL DOCK7 85440 genome.wustl.edu 37 1 62941521 62941521 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033407.2 -1 validated p.R1909* 1.000 337 0.3% 311 24.1% 11 0% - - - HMMPfam_Ded_cyto ANGPTL3 27329 genome.wustl.edu 37 1 63066774 63066774 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014495.2 +1 reviewed p.E210* 1.000 193 0% 151 27.2% 0 - - - - NULL ANGPTL3 27329 genome.wustl.edu 37 1 63069884 63069884 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014495.2 +1 reviewed p.F392L 0.203 224 0% 152 28.9% 0 - benign(0) tolerated(1) - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like ALG6 29929 genome.wustl.edu 37 1 63894444 63894444 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013339.3 +1 reviewed p.T367A 0.936 202 0% 176 21% 15 13.3% benign(0.013) tolerated(0.22) neutral(0.043) HMMPfam_Alg6_Alg8 EFCAB7 84455 genome.wustl.edu 37 1 64038176 64038176 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032437.2 +1 validated p.L627F 0.861 70 0% 50 32% 1 100% possibly_damaging(0.882) deleterious(0.03) deleterious(0.709) NULL AK4 205 genome.wustl.edu 37 1 65684575 65684575 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005353.1 +1 reviewed p.V135A 0.997 167 0% 129 27.1% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) "HMMPfam_ADK,HMMPfam_ADK_lid,superfamily_Microbial and mitochondrial ADK insert ""zinc finger"" domain,superfamily_P-loop containing nucleoside triphosphate hydrolases" AK4 205 genome.wustl.edu 37 1 65691804 65691804 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005353.1 +1 reviewed p.V206I 0.988 189 0% 161 28.6% 6 33.3% benign(0.043) tolerated(0.15) neutral(0.243) superfamily_P-loop containing nucleoside triphosphate hydrolases LEPR 3953 genome.wustl.edu 37 1 66062163 66062163 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002303.4 +1 reviewed p.E246K 1.000 154 0% 108 20.4% 2 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SGIP1 84251 genome.wustl.edu 37 1 67101642 67101642 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032291.2 +1 validated p.E39K 1.000 319 0% 257 26.8% 0 - benign(0.002) tolerated(0.06) neutral(0.323) NULL TCTEX1D1 200132 genome.wustl.edu 37 1 67242046 67242046 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152665.2 +1 validated p.E99A 1.000 114 0% 113 36.3% 0 - benign(0.009) deleterious(0.04) neutral(0.349) HMMPfam_Tctex-1 SLC35D1 23169 genome.wustl.edu 37 1 67470088 67470088 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015139.2 -1 reviewed p.E335K 1.000 202 0% 170 35.3% 2 50% benign(0.002) tolerated(0.73) neutral(0.002) NULL C1orf141 400757 genome.wustl.edu 37 1 67561052 67561052 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013674.1 -1 predicted p.R157 0.004 54 0% 62 30.6% 0 - - - - NULL C1orf141 400757 genome.wustl.edu 37 1 67581139 67581139 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013674.1 -1 predicted p.S81Y 0.002 205 0% 150 27.3% 0 - probably_damaging(0.991) tolerated(0.21) deleterious(0.488) NULL IL12RB2 3595 genome.wustl.edu 37 1 67845728 67845728 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001559.2 +1 reviewed p.T593A 0.276 284 0% 228 32% 0 - possibly_damaging(0.688) tolerated(0.61) neutral(0.250) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LOC100133029 100133029 genome.wustl.edu 37 1 68509804 68509804 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_078220.1 +1 model NULL 1.000 77 0% 68 25% 0 - - - - - DIRAS3 9077 genome.wustl.edu 37 1 68512579 68512579 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004675.2 -1 reviewed p.I134 0.997 154 0% 157 35.7% 2 0% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RPE65 6121 genome.wustl.edu 37 1 68904979 68904979 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000329.2 -1 reviewed p.V251 0.993 235 0% 169 29.6% 0 - - - - HMMPfam_RPE65 DEPDC1 55635 genome.wustl.edu 37 1 68955277 68955277 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114120.1 -1 validated p.S110L 1.000 108 0% 99 25.3% 3 33.3% probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_SSF46785 LRRC7 57554 genome.wustl.edu 37 1 70226020 70226020 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020794.2 +1 validated p.E45K 1.000 164 0% 133 32.3% 0 - possibly_damaging(0.858) tolerated(0.16) neutral(0.391) superfamily_L domain-like LRRC7 57554 genome.wustl.edu 37 1 70493987 70493987 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020794.2 +1 validated p.T605M 1.000 124 0% 123 38.2% 0 - probably_damaging(0.995) tolerated(0.15) deleterious(0.699) NULL LRRC40 55631 genome.wustl.edu 37 1 70654896 70654896 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017768.4 -1 validated p.S71L 0.946 275 0% 242 12.4% 11 27.2% possibly_damaging(0.905) deleterious(0.05) deleterious(0.705) superfamily_SSF52058 SRSF11 9295 genome.wustl.edu 37 1 70703154 70703154 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004768.2 +1 reviewed p.D213N 1.000 100 0% 110 34.5% 29 34.4% unknown(0) tolerated(0.36) - NULL PTGER3 5733 genome.wustl.edu 37 1 71512841 71512841 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198718.1 -1 reviewed p.F140 0.670 9 0.000 11 0.455 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 PTGER3 5733 genome.wustl.edu 37 1 71513072 71513072 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198718.1 -1 reviewed p.F63 1.000 11 0% 11 36.4% 0 - - - - superfamily_SSF81321 FPGT 8790 genome.wustl.edu 37 1 74670700 74670700 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003838.2 +1 reviewed p.V323 1.000 126 0% 138 30.4% 4 75% - - - HMMPfam_Fucokinase TNNI3K 51086 genome.wustl.edu 37 1 74835139 74835139 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001112808.1 +1 validated p.L614I 1.000 168 0% 131 36.6% 1 0% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) C1orf173 127254 genome.wustl.edu 37 1 75037897 75037897 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002912.4 -1 validated p.S1166L 0.036 464 0.2% 369 32% 0 - possibly_damaging(0.722) deleterious(0) deleterious(0.707) NULL C1orf173 127254 genome.wustl.edu 37 1 75038106 75038106 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002912.4 -1 validated p.Q1096H 0.000 609 0% 472 32.4% 0 - benign(0) deleterious(0) neutral(0.445) NULL C1orf173 127254 genome.wustl.edu 37 1 75038707 75038707 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002912.4 -1 validated p.E896G 0.000 700 0% 560 29.6% 0 - benign(0.002) deleterious(0) neutral(0.445) NULL LHX8 431707 genome.wustl.edu 37 1 75606762 75606762 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001933.1 +1 validated p.K120N 0.990 123 0% 77 26% 0 - probably_damaging(0.974) tolerated(0.36) neutral(0.436) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) MSH4 4438 genome.wustl.edu 37 1 76343887 76343887 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002440.2 +1 validated p.Y475C 1.000 71 0% 48 29.2% 0 - possibly_damaging(0.46) deleterious(0.03) deleterious(0.515) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII MSH4 4438 genome.wustl.edu 37 1 76363709 76363709 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002440.2 +1 validated p.E825* 1.000 238 0% 147 23.1% 0 - - - - HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 USP33 23032 genome.wustl.edu 37 1 78189051 78189051 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015017.3 -1 validated p.I483L 1.000 95 0% 72 12.5% 28 28.5% benign(0.169) tolerated(0.99) neutral(0.015) HMMPfam_UCH,superfamily_Cysteine proteinases USP33 23032 genome.wustl.edu 37 1 78207369 78207369 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015017.3 -1 validated p.R36Q 0.997 87 0% 68 23.5% 3 0% possibly_damaging(0.516) tolerated(0.05) deleterious(0.519) NULL FAM73A 374986 genome.wustl.edu 37 1 78324721 78324721 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198549.2 +1 predicted p.K365N 1.000 129 0% 170 22.4% 0 - probably_damaging(0.996) tolerated(0.16) deleterious(0.521) HMMPfam_DUF2217 FUBP1 8880 genome.wustl.edu 37 1 78426167 78426167 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003902.3 -1 reviewed p.P453H 1.000 40 0% 55 27.3% 129 41.8% probably_damaging(0.999) tolerated(0.54) deleterious(0.498) superfamily_Eukaryotic type KH-domain (KH-domain type I) FUBP1 8880 genome.wustl.edu 37 1 78433875 78433875 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003902.3 -1 reviewed p.A75G 1.000 140 0% 110 29.1% 22 72.7% possibly_damaging(0.556) tolerated(0.26) neutral(0.224) NULL DNAJB4 11080 genome.wustl.edu 37 1 78481792 78481792 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007034.3 +1 provisional p.R292I 1.000 110 0% 105 31.4% 9 55.5% benign(0.222) tolerated(0.29) neutral(0.051) HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain GIPC2 54810 genome.wustl.edu 37 1 78546431 78546431 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017655.4 +1 validated p.D105Y 1.000 234 0% 195 29.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PDZ GIPC2 54810 genome.wustl.edu 37 1 78585118 78585118 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017655.4 +1 validated p.K217Q 0.255 103 0% 82 30.5% 0 - probably_damaging(0.996) tolerated(0.45) deleterious(0.474) NULL PTGFR 5737 genome.wustl.edu 37 1 78959101 78959101 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000959.3 +1 reviewed p.I225V 1.000 108 0% 110 28.2% 0 - benign(0.001) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 PTGFR 5737 genome.wustl.edu 37 1 79002235 79002235 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000959.3 +1 reviewed p.L315I 1.000 224 0% 184 29.9% 0 - possibly_damaging(0.849) tolerated(0.45) neutral(0.338) superfamily_SSF81321 IFI44 10561 genome.wustl.edu 37 1 79116329 79116329 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006417.4 +1 validated p.R150Q 0.887 166 0.6% 172 29.1% 4 25% probably_damaging(0.957) tolerated(0.12) deleterious(0.661) superfamily_SSF52540 IFI44 10561 genome.wustl.edu 37 1 79129490 79129490 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006417.4 +1 validated p.K443N 0.000 120 0% 92 32.6% 3 0% possibly_damaging(0.774) deleterious(0) deleterious(0.733) NULL ELTD1 64123 genome.wustl.edu 37 1 79392576 79392576 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022159.3 -1 validated p.R360* 0.028 123 0% 125 31.2% 1 0% - - - NULL ELTD1 64123 genome.wustl.edu 37 1 79403949 79403949 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022159.3 -1 validated p.E138* 0.611 103 0% 65 36.9% 0 - - - - NULL ELTD1 64123 genome.wustl.edu 37 1 79404928 79404928 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022159.3 -1 validated p.N114S 0.941 60 0% 40 35% 5 0% benign(0.009) tolerated(0.25) neutral(0.037) NULL TTLL7 79739 genome.wustl.edu 37 1 84408255 84408255 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024686.4 -1 validated p.R205Q 1.000 92 0% 52 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like RPF1 80135 genome.wustl.edu 37 1 84946689 84946689 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025065.6 +1 validated p.G93 0.948 216 0% 215 31.6% 45 46.6% - - - NULL MCOLN2 255231 genome.wustl.edu 37 1 85417962 85417962 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153259.2 -1 reviewed p.S237 0.417 143 0% 135 11.1% 0 - - - - NULL MCOLN3 55283 genome.wustl.edu 37 1 85491841 85491841 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000370587 -1 known p.A320V 0.000 201 0% 170 34.1% 0 - benign(0.099) deleterious(0) neutral(0.452) NULL MCOLN3 55283 genome.wustl.edu 37 1 85506698 85506698 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018298.9 -1 validated p.N131H 0.512 363 0% 316 29.4% 0 - benign(0) tolerated(0.13) neutral(0.253) NULL WDR63 126820 genome.wustl.edu 37 1 85548073 85548073 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145172.3 +1 validated p.E126* 1.000 90 0% 76 32.9% 0 - - - - superfamily_WD40 repeat-like WDR63 126820 genome.wustl.edu 37 1 85550265 85550265 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145172.3 +1 validated p.E143* 0.997 404 0% 338 25.4% 0 - - - - superfamily_WD40 repeat-like SYDE2 84144 genome.wustl.edu 37 1 85624566 85624566 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032184.1 -1 validated p.Y1151C 0.995 131 0% 113 28.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYDE2 84144 genome.wustl.edu 37 1 85630256 85630256 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032184.1 -1 validated p.F1013S 1.000 29 0% 23 26.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00324,superfamily_GTPase activation domain GAP SYDE2 84144 genome.wustl.edu 37 1 85643939 85643939 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032184.1 -1 validated p.R854Q 1.000 32 0% 26 23.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP BCL10 8915 genome.wustl.edu 37 1 85736389 85736389 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003921.4 -1 reviewed p.I86M 0.992 187 0% 205 32.7% 16 37.5% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_CARD,superfamily_DEATH domain BCL10 8915 genome.wustl.edu 37 1 85736574 85736574 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003921.4 -1 reviewed p.R25C 1.000 171 0% 193 25.4% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CARD,superfamily_DEATH domain COL24A1 255631 genome.wustl.edu 37 1 86249997 86249997 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152890.5 -1 validated p.R1371Q 0.000 196 0% 150 36% 1 0% benign(0.009) tolerated(0.47) neutral(0.011) HMMPfam_Collagen COL24A1 255631 genome.wustl.edu 37 1 86590830 86590830 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152890.5 -1 validated p.L397I 0.016 166 0% 204 30.4% 0 - benign(0.001) tolerated(0.09) neutral(0.296) NULL CLCA1 1179 genome.wustl.edu 37 1 86939500 86939500 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000495894 +1 known NULL 0.002 305 0% 249 21.3% 0 - - - - - CLCA1 1179 genome.wustl.edu 37 1 86951090 86951090 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001285.3 +1 reviewed p.C267Y 1.000 440 0% 467 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CLCA4 22802 genome.wustl.edu 37 1 87041050 87041050 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012128.3 +1 reviewed p.A573 0.000 210 0% 178 29.2% 0 - - - - HMMPfam_DUF1973 RBMXL1 494115 genome.wustl.edu 37 1 89448540 89448540 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000321792 -1 known p.R324* 1.000 301 0% 271 29.2% 6 0% - - - NULL GBP3 2635 genome.wustl.edu 37 1 89486336 89486336 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018284.2 -1 reviewed p.A23 0.000 380 0% 385 28.3% 9 33.3% - - - superfamily_SSF52540 GBP7 388646 genome.wustl.edu 37 1 89607325 89607325 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207398.2 -1 validated p.E458K 0.001 222 0% 209 14.4% 0 - benign(0.003) tolerated(0.08) neutral(0.300) HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain GBP4 115361 genome.wustl.edu 37 1 89651095 89651095 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052941.4 -1 validated p.E589* 0.047 255 0% 273 27.5% 5 0% - - - HMMPfam_GBP_C,superfamily_GBP GBP4 115361 genome.wustl.edu 37 1 89658671 89658671 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052941.4 -1 validated p.R196W 0.274 179 0% 234 27.4% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GBP,superfamily_SSF52540 GBP4 115361 genome.wustl.edu 37 1 89659033 89659033 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052941.4 -1 validated p.V142 1.000 172 0% 158 30.4% 7 0% - - - HMMPfam_GBP,superfamily_SSF52540 LRRC8C 84230 genome.wustl.edu 37 1 90179583 90179583 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032270.4 +1 validated p.A485V 1.000 201 0% 174 37.9% 7 42.8% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_L domain-like LRRC8C 84230 genome.wustl.edu 37 1 90180019 90180019 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032270.4 +1 validated p.I630 0.047 151 0% 101 30.7% 4 0% - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like LRRC8D 55144 genome.wustl.edu 37 1 90399926 90399926 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134479.1 +1 validated p.R433 0.750 123 0% 113 32.7% 23 30.4% - - - NULL LRRC8D 55144 genome.wustl.edu 37 1 90400375 90400375 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134479.1 +1 validated p.S583Y 1.000 149 0% 104 19.2% 61 40.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_SSF52058 BARHL2 343472 genome.wustl.edu 37 1 91182708 91182708 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020063.1 -1 validated p.T15 0.999 103 0% 55 27.3% 0 - - - - NULL ZNF644 84146 genome.wustl.edu 37 1 91404729 91404729 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201269.1 -1 validated p.E728* 1.000 132 0% 163 35% 2 50% - - - NULL ZNF644 84146 genome.wustl.edu 37 1 91404952 91404952 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201269.1 -1 validated p.K653N 1.000 198 0% 239 29.7% 6 16.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZNF644 84146 genome.wustl.edu 37 1 91405066 91405066 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201269.1 -1 validated p.D615 1.000 196 0% 207 29% 1 0% - - - NULL ZNF644 84146 genome.wustl.edu 37 1 91405533 91405533 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201269.1 -1 validated p.R460C 1.000 221 0% 241 32.4% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF644 84146 genome.wustl.edu 37 1 91406406 91406406 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201269.1 -1 validated p.A169T 0.957 214 0% 238 24.8% 1 0% benign(0.129) deleterious(0) neutral(0.456) NULL HFM1 164045 genome.wustl.edu 37 1 91781509 91781509 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000430465 -1 known p.R213Q 0.000 79 0% 95 26.3% 0 - - - - NULL CDC7 8317 genome.wustl.edu 37 1 91985764 91985764 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134419.1 +1 reviewed p.D420Y 1.000 209 0% 201 28.9% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TGFBR3 7049 genome.wustl.edu 37 1 92182141 92182141 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003243.3 -1 validated p.R564Q 0.037 531 0% 400 29.5% 0 - possibly_damaging(0.893) tolerated(0.52) neutral(0.360) HMMPfam_Zona_pellucida,HMMSmart_ZP TGFBR3 7049 genome.wustl.edu 37 1 92193247 92193247 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003243.3 -1 validated p.S285Y 1.000 263 0% 290 36.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL BRDT 676 genome.wustl.edu 37 1 92446270 92446270 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001726.3 +1 validated p.E453A 0.960 190 0% 142 33.1% 0 - benign(0.033) tolerated(0.43) neutral(0.015) NULL BRDT 676 genome.wustl.edu 37 1 92446528 92446528 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001726.3 +1 validated p.K515E 1.000 191 0% 112 22.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BRDT 676 genome.wustl.edu 37 1 92467670 92467670 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001726.3 +1 validated p.T784 0.000 183 0% 131 32.1% 0 - - - - NULL EPHX4 253152 genome.wustl.edu 37 1 92528711 92528711 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173567.4 +1 validated p.K319N 1.000 188 0% 145 31.7% 0 - benign(0.025) tolerated(0.46) neutral(0.013) HMMPfam_Abhydrolase_1,superfamily_SSF53474 BTBD8 284697 genome.wustl.edu 37 1 92606759 92606759 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_183242.3 +1 validated p.F307 1.000 128 0% 88 33% 0 - - - - NULL EVI5 7813 genome.wustl.edu 37 1 93101866 93101866 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005665.4 -1 validated p.D458Y 1.000 222 0.5% 158 31% 1 0% possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL RPL5 6125 genome.wustl.edu 37 1 93306145 93306145 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000969.3 +1 reviewed p.R248Q 1.000 432 0% 314 28.7% 1320 42.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Translational machinery components MTF2 22823 genome.wustl.edu 37 1 93584893 93584893 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007358.3 +1 validated p.F244L 1.000 50 0% 53 32.1% 12 75% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD CCDC18 343099 genome.wustl.edu 37 1 93649649 93649649 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206886.2 +1 validated p.N201 0.278 175 0% 140 32.9% 1 0% - - - NULL DNTTIP2 30836 genome.wustl.edu 37 1 94342538 94342538 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014597.3 -1 provisional p.S318Y 0.063 150 0% 154 31.2% 25 40% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ABCA4 24 genome.wustl.edu 37 1 94495985 94495985 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000350.2 -1 reviewed p.P1451S 0.330 94 0% 94 34% 1 100% benign(0) tolerated(0.41) neutral(0.015) NULL DPYD 1806 genome.wustl.edu 37 1 97564181 97564181 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000110.3 -1 reviewed p.P877Q 1.000 174 0% 155 11% 1 0% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) superfamily_SSF54862 DPYD 1806 genome.wustl.edu 37 1 98186483 98186483 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000306031 -1 known e6-1 0.002 53 0% 44 31.8% 0 - - - - - DPYD 1806 genome.wustl.edu 37 1 98348842 98348842 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000110.3 -1 reviewed p.R43I 1.000 80 0% 57 26.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Helical_ferredxn LPPR5 163404 genome.wustl.edu 37 1 99387499 99387499 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037317.1 -1 reviewed p.R246Q 1.000 221 0% 175 24.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase AGL 178 genome.wustl.edu 37 1 100342057 100342057 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000028.2 +1 reviewed p.E443* 0.999 81 0% 44 25% 1 0% - - - superfamily_(Trans)glycosidases AGL 178 genome.wustl.edu 37 1 100361928 100361928 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000028.2 +1 reviewed p.R1116C 0.997 167 0.6% 123 31.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Six-hairpin glycosidases,HMMPfam_GDE_C SASS6 163786 genome.wustl.edu 37 1 100591457 100591457 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194292.1 -1 validated p.S36Y 0.998 167 0% 130 26.9% 3 0% probably_damaging(0.972) tolerated(0.06) deleterious(0.736) NULL CCDC76 54482 genome.wustl.edu 37 1 100605798 100605798 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019083.2 +1 validated p.A129T 1.000 106 0% 66 37.9% 3 66.6% probably_damaging(0.995) tolerated(0.11) deleterious(0.729) NULL VCAM1 7412 genome.wustl.edu 37 1 101190371 101190371 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001078.2 +1 reviewed p.D285Y 1.000 149 0% 171 35.7% 13 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin VCAM1 7412 genome.wustl.edu 37 1 101198074 101198074 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001078.2 +1 reviewed p.P542 0.024 132 0% 128 25.8% 11 0% - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin VCAM1 7412 genome.wustl.edu 37 1 101200164 101200164 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001078.2 +1 reviewed p.I633M 1.000 199 0% 153 22.2% 17 0% possibly_damaging(0.756) deleterious(0.01) deleterious(0.685) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin EXTL2 2135 genome.wustl.edu 37 1 101343416 101343416 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033025.1 -1 validated p.R17* 0.710 166 0% 116 27.6% 4 25% - - - NULL S1PR1 1901 genome.wustl.edu 37 1 101705150 101705150 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001400.4 +1 reviewed p.L204I 1.000 175 0% 193 36.3% 19 15.7% possibly_damaging(0.661) deleterious(0.01) deleterious(0.639) HMMPfam_7tm_1,superfamily_SSF81321 COL11A1 1301 genome.wustl.edu 37 1 103347308 103347308 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080629.2 -1 reviewed p.S1674* 1.000 91 0% 95 35.8% 16 0% - - - HMMPfam_COLFI,HMMSmart_COLFI AMY2B 280 genome.wustl.edu 37 1 104116430 104116430 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020978.3 +1 reviewed p.G205V 1.000 698 0% 442 31.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_(Trans)glycosidases PRMT6 55170 genome.wustl.edu 37 1 107599942 107599942 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018137.2 +1 validated p.E143A 0.989 44 0% 54 38.9% 10 0% possibly_damaging(0.531) deleterious(0.01) deleterious(0.585) superfamily_S-adenosyl-L-methionine-dependent methyltransferases NTNG1 22854 genome.wustl.edu 37 1 107691410 107691410 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113226.1 +1 validated p.L65 1.000 151 0% 116 34.5% 1 100% - - - HMMPfam_Laminin_N,HMMSmart_SM00136 NTNG1 22854 genome.wustl.edu 37 1 107961238 107961238 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113228.1 +1 validated p.S375Y 1.000 30 0% 23 26.1% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL VAV3 10451 genome.wustl.edu 37 1 108291648 108291648 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006113.4 -1 reviewed p.F482V 1.000 100 0% 70 27.1% 2 100% benign(0.001) tolerated(0.15) neutral(0.241) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like FNDC7 163479 genome.wustl.edu 37 1 109271421 109271421 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144937.1 +1 provisional p.P513S 1.000 124 0% 111 29.7% 0 - probably_damaging(1) tolerated(0.49) deleterious(0.510) HMMSmart_SM00060,superfamily_Fibronectin type III AKNAD1 254268 genome.wustl.edu 37 1 109358873 109358873 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152763.3 -1 validated p.E811* 0.992 250 0% 244 14.3% 0 - - - - NULL AKNAD1 254268 genome.wustl.edu 37 1 109373196 109373196 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152763.3 -1 validated p.R608H 0.003 101 0% 76 34.2% 0 - benign(0.165) tolerated(0.06) neutral(0.338) NULL GPSM2 29899 genome.wustl.edu 37 1 109441519 109441519 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013296.4 +1 validated p.E234* 1.000 151 0% 123 24.4% 1 0% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 GPSM2 29899 genome.wustl.edu 37 1 109472452 109472452 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013296.4 +1 validated p.L649F 1.000 308 0% 222 29.3% 10 10% benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_GoLoco,HMMSmart_GoLoco KIAA1324 57535 genome.wustl.edu 37 1 109707137 109707137 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020775.3 +1 validated p.A97 0.379 201 0% 209 29.7% 1 0% unknown(0) - - superfamily_Growth factor receptor domain SORT1 6272 genome.wustl.edu 37 1 109859531 109859531 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002959.4 -1 reviewed p.R731* 0.525 332 0% 262 29% 34 0% - - - HMMSmart_SM00602 SYPL2 284612 genome.wustl.edu 37 1 110019591 110019591 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040709.1 +1 validated p.P150T 0.998 149 0% 159 23.9% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_MARVEL ATXN7L2 127002 genome.wustl.edu 37 1 110031050 110031050 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153340.4 +1 validated p.E249A 1.000 35 0% 30 43.3% 2 50% possibly_damaging(0.891) deleterious(0.01) deleterious(0.756) HMMPfam_SCA7 AMIGO1 57463 genome.wustl.edu 37 1 110051072 110051072 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020703.2 -1 validated p.D155N 0.821 76 0% 60 41.7% 1 0% benign(0.01) tolerated(0.47) neutral(0.011) superfamily_SSF52058 GPR61 83873 genome.wustl.edu 37 1 110086751 110086751 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031936.4 +1 validated p.R369 1.000 68 0% 47 21.3% 0 - - - - superfamily_Family A G protein-coupled receptor-like GNAT2 2780 genome.wustl.edu 37 1 110155384 110155384 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005272.3 -1 reviewed p.L37I 1.000 96 0% 108 13.9% 2 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases GSTM5 2949 genome.wustl.edu 37 1 110257850 110257850 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000851.3 +1 reviewed p.I185 0.016 166 0% 206 20.9% 2 0% - - - HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain EPS8L3 79574 genome.wustl.edu 37 1 110293371 110293371 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139053.1 -1 reviewed p.R562C 0.521 64 0% 75 32% 1 0% possibly_damaging(0.893) tolerated(0.08) deleterious(0.652) NULL EPS8L3 79574 genome.wustl.edu 37 1 110300103 110300103 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139053.1 -1 reviewed p.F324 0.000 38 0% 45 26.7% 2 0% - - - NULL ALX3 257 genome.wustl.edu 37 1 110607456 110607456 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006492.2 -1 reviewed p.D116G 0.230 16 0% 11 36.4% 0 - benign(0.4) deleterious(0.04) deleterious(0.477) NULL UBL4B 164153 genome.wustl.edu 37 1 110655237 110655237 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203412.1 +1 validated p.K27N 1.000 79 0% 116 36.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 SLC6A17 388662 genome.wustl.edu 37 1 110716596 110716596 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010898.2 +1 validated p.V149A 1.000 65 1.5% 56 33.9% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_SNF SLC6A17 388662 genome.wustl.edu 37 1 110740893 110740893 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010898.2 +1 validated p.D671N 1.000 68 0% 57 28.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KCNA10 3744 genome.wustl.edu 37 1 111060307 111060307 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005549.2 -1 reviewed p.L368R 1.000 260 0.4% 265 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 KCNA10 3744 genome.wustl.edu 37 1 111060647 111060647 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005549.2 -1 reviewed p.L255I 0.003 241 0% 271 29.9% 0 - benign(0) tolerated(0.3) neutral(0.029) superfamily_SSF81324 KCNA3 3738 genome.wustl.edu 37 1 111215867 111215867 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002232.3 -1 reviewed p.S522L 1.000 154 0% 81 29.6% 0 - benign(0.023) tolerated(0.06) neutral(0.324) NULL LRIF1 55791 genome.wustl.edu 37 1 111495024 111495024 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018372.3 -1 validated p.S161Y 0.993 317 0% 262 32.1% 4 25% possibly_damaging(0.509) deleterious(0.04) deleterious(0.519) NULL DENND2D 79961 genome.wustl.edu 37 1 111730975 111730975 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024901.3 -1 provisional p.E373K 0.985 156 0% 123 33.3% 2 0% benign(0.002) tolerated(0.79) neutral(0.001) HMMPfam_dDENN,HMMSmart_SM00801 CHI3L2 1117 genome.wustl.edu 37 1 111773879 111773879 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004000.2 +1 validated p.L98I 1.000 66 0% 72 33.3% 8 12.5% possibly_damaging(0.924) deleterious(0.04) deleterious(0.722) HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat C1orf88 128344 genome.wustl.edu 37 1 111889580 111889580 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181643.4 +1 validated p.F23C 1.000 91 0% 55 18.2% 27 59.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OVGP1 5016 genome.wustl.edu 37 1 111964193 111964193 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002557.3 -1 reviewed p.K237N 0.936 179 0% 187 28.9% 1 0% benign(0.062) tolerated(0.2) neutral(0.053) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases OVGP1 5016 genome.wustl.edu 37 1 111964246 111964246 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002557.3 -1 reviewed p.E220* 1.000 198 0% 196 30.6% 1 0% - - - HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases ADORA3 140 genome.wustl.edu 37 1 112042916 112042916 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000677.3 -1 reviewed p.R205W 0.993 361 0% 309 29.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KCND3 3752 genome.wustl.edu 37 1 112525100 112525100 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004980.3 -1 reviewed p.F83L 1.000 139 0% 99 26.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain SLC16A1 6566 genome.wustl.edu 37 1 113456590 113456590 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003051.3 -1 reviewed p.E476* 0.478 266 0% 275 33.5% 15 13.3% - - - NULL SLC16A1 6566 genome.wustl.edu 37 1 113460045 113460045 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003051.3 -1 reviewed p.R328Q 0.988 134 0% 158 39.2% 15 26.6% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter LRIG2 9860 genome.wustl.edu 37 1 113658960 113658960 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014813.1 +1 provisional p.T861M 1.000 81 0% 45 24.4% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL MAGI3 260425 genome.wustl.edu 37 1 114225877 114225877 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142782.1 +1 validated p.S1229 0.011 225 0% 215 15.8% 2 0% - - - NULL PTPN22 26191 genome.wustl.edu 37 1 114375722 114375722 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012411.3 -1 reviewed p.F688L 0.000 71 0% 105 25.7% 0 - unknown(0) - - NULL PTPN22 26191 genome.wustl.edu 37 1 114380396 114380396 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015967.4 -1 reviewed p.P542 0.756 264 0% 322 26.4% 1 0% - - - NULL PTPN22 26191 genome.wustl.edu 37 1 114414192 114414192 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015967.4 -1 reviewed p.K18N 0.295 218 0% 300 36% 0 - benign(0.182) deleterious(0.01) neutral(0.422) superfamily_SSF52799 DCLRE1B 64858 genome.wustl.edu 37 1 114453897 114453897 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022836.3 +1 validated p.R228H 1.000 99 0% 150 26% 14 28.5% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_DRMBL HIPK1 204851 genome.wustl.edu 37 1 114508829 114508829 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000361587 +1 known p.L53F 1.000 94 0% 86 33.7% 12 33.3% - - - NULL TRIM33 51592 genome.wustl.edu 37 1 114948090 114948090 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015906.3 -1 reviewed p.K904Q 1.000 550 0% 464 30.2% 7 71.4% possibly_damaging(0.918) tolerated(0.12) deleterious(0.629) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD TRIM33 51592 genome.wustl.edu 37 1 114976295 114976295 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000448034 -1 known p.R65Q 1.000 120 0% 103 29.1% 6 50% - - - HMMSmart_SM00502 AMPD1 270 genome.wustl.edu 37 1 115216292 115216292 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000036.2 -1 reviewed p.N685D 1.000 74 0% 72 20.8% 0 - possibly_damaging(0.899) deleterious(0) deleterious(0.800) HMMPfam_A_deaminase,superfamily_SSF51556 AMPD1 270 genome.wustl.edu 37 1 115217471 115217471 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000036.2 -1 reviewed p.L568M 1.000 65 0% 76 40.8% 0 - benign(0.027) tolerated(0.15) neutral(0.242) HMMPfam_A_deaminase,superfamily_SSF51556 CSDE1 7812 genome.wustl.edu 37 1 115261263 115261263 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130523.1 -1 validated p.R789C 1.000 88 0% 77 35.1% 433 39% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSDE1 7812 genome.wustl.edu 37 1 115263259 115263259 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130523.1 -1 validated p.S666 1.000 180 0% 133 36.1% 399 40.6% - - - NULL CSDE1 7812 genome.wustl.edu 37 1 115272974 115272974 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130523.1 -1 validated p.H436N 1.000 180 0% 140 34.3% 278 42% possibly_damaging(0.952) tolerated(0.17) neutral(0.455) NULL CSDE1 7812 genome.wustl.edu 37 1 115277136 115277136 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130523.1 -1 validated p.A185V 1.000 164 0% 165 29.1% 139 47.4% possibly_damaging(0.918) tolerated(0.24) neutral(0.406) NULL SIKE1 80143 genome.wustl.edu 37 1 115321846 115321846 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102396.1 -1 validated p.R113W 1.000 170 0% 143 24.5% 33 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF837 SYCP1 6847 genome.wustl.edu 37 1 115453072 115453072 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003176.2 +1 validated p.E459* 1.000 231 0% 157 36.3% 0 - - - - HMMPfam_SCP-1 TSHB 7252 genome.wustl.edu 37 1 115576028 115576028 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000549.3 +1 reviewed p.C15 0.997 275 0% 235 35.7% 0 - - - - NULL TSPAN2 10100 genome.wustl.edu 37 1 115596074 115596074 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005725.4 -1 reviewed p.D176N 0.998 213 0% 164 29.3% 3 0% benign(0.001) tolerated(0.19) neutral(0.050) superfamily_Tetraspanin,HMMPfam_Tetraspannin TSPAN2 10100 genome.wustl.edu 37 1 115604812 115604812 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005725.4 -1 reviewed p.V72M 1.000 13 0% 10 60% 3 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Tetraspannin,PatternScan_TM4_1 NGF 4803 genome.wustl.edu 37 1 115829175 115829175 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002506.2 -1 reviewed p.R81Q 0.559 71 0% 50 36% 0 - benign(0.404) deleterious(0.04) deleterious(0.479) NULL VANGL1 81839 genome.wustl.edu 37 1 116226668 116226668 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138959.2 +1 reviewed p.H350 0.060 99 0% 79 30.4% 18 33.3% - - - HMMPfam_Strabismus CASQ2 845 genome.wustl.edu 37 1 116243955 116243955 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001232.3 -1 reviewed p.K369N 0.998 116 0% 99 26.3% 0 - probably_damaging(0.979) tolerated(0.18) deleterious(0.478) HMMPfam_Calsequestrin,PatternScan_CALSEQUESTRIN_2 CASQ2 845 genome.wustl.edu 37 1 116275589 116275589 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001232.3 -1 reviewed p.K180T 1.000 157 0% 138 22.5% 2 100% possibly_damaging(0.561) deleterious(0.05) deleterious(0.537) HMMPfam_Calsequestrin,superfamily_Thioredoxin-like IGSF3 3321 genome.wustl.edu 37 1 117120139 117120139 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001542.2 -1 validated p.Y1147C 1.000 133 0% 116 36.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IGSF3 3321 genome.wustl.edu 37 1 117122389 117122389 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001542.2 -1 validated p.A1007T 1.000 43 0% 67 16.4% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 CD2 914 genome.wustl.edu 37 1 117303043 117303043 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001767.3 +1 validated p.K134N 0.000 126 0% 135 33.3% 22 0% benign(0.001) tolerated(0.49) neutral(0.011) superfamily_Immunoglobulin CD101 9398 genome.wustl.edu 37 1 117554205 117554205 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004258.3 +1 validated p.S153Y 0.918 156 0% 83 41% 0 - possibly_damaging(0.46) deleterious(0.03) deleterious(0.515) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 WDR3 10885 genome.wustl.edu 37 1 118476052 118476052 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006784.2 +1 reviewed p.R37H 1.000 203 0% 162 31.5% 8 50% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_WD40 repeat-like WDR3 10885 genome.wustl.edu 37 1 118477158 118477158 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006784.2 +1 reviewed p.L78 1.000 186 0% 147 36.1% 11 54.5% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SPAG17 200162 genome.wustl.edu 37 1 118640370 118640370 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206996.2 -1 validated p.L312F 1.000 138 0% 97 30.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HAO2 51179 genome.wustl.edu 37 1 119923829 119923829 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005783.1 +1 reviewed p.A41S 1.000 180 0% 157 31.2% 0 - benign(0.338) tolerated(0.06) neutral(0.429) HMMPfam_FMN_dh,superfamily_FMN-linked oxidoreductases HAO2 51179 genome.wustl.edu 37 1 119925542 119925542 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005783.1 +1 reviewed p.R46C 1.000 103 0% 93 33.3% 0 - probably_damaging(0.98) deleterious(0.05) deleterious(0.769) HMMPfam_FMN_dh,superfamily_FMN-linked oxidoreductases HSD3B2 3284 genome.wustl.edu 37 1 119958163 119958163 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000198.3 +1 reviewed p.E41* 0.025 225 0% 205 34.1% 0 - - - - HMMPfam_3Beta_HSD,superfamily_NAD(P)-binding Rossmann-fold domains HSD3B1 3283 genome.wustl.edu 37 1 120056674 120056674 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000862.2 +1 validated p.N176 1.000 293 0% 288 14.6% 0 - - - - HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd ZNF697 90874 genome.wustl.edu 37 1 120168510 120168510 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080470.1 -1 provisional p.D72N 0.000 74 0% 42 31% 0 - benign(0) tolerated(0.55) neutral(0.007) NULL NBPF7 343505 genome.wustl.edu 37 1 120378766 120378766 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001047980.1 -1 predicted p.S327Y 0.000 155 0% 157 21.7% 0 - - - - HMMPfam_DUF1220 NBPF7 343505 genome.wustl.edu 37 1 120381872 120381872 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001047980.1 -1 predicted p.S258L 0.000 519 0% 449 27.8% 0 - - - - HMMPfam_DUF1220 NOTCH2 4853 genome.wustl.edu 37 1 120464410 120464410 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024408.2 -1 reviewed p.E1746* 1.000 162 0% 108 34.3% 4 0% - - - NULL NOTCH2 4853 genome.wustl.edu 37 1 120464896 120464896 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024408.2 -1 reviewed p.R1726C 1.000 135 0% 126 33.3% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100132733 100132733 genome.wustl.edu 37 1 143211639 143211639 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001715342.2 -1 model p.E230* 0.036 47 0% 26 34.6% 0 - - - - NULL FAM72D 728833 genome.wustl.edu 37 1 143910092 143910092 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207418.2 -1 predicted p.I72 0.968 629 0% 668 9.1% 5 0% - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144874007 144874007 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014644.4 -1 validated p.H1650 0.863 586 0% 473 15.2% 0 - - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144877269 144877269 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014644.4 -1 validated p.K1473T 1.000 235 0% 172 22.1% 0 - unknown(0) deleterious(0) - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144881520 144881520 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014644.4 -1 validated p.R1226C 0.982 292 0% 289 17% 0 - unknown(0) deleterious(0) - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144931212 144931212 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002811.1 -1 validated p.R166K 1.000 215 0% 154 14.9% 2 0% possibly_damaging(0.945) tolerated(0.55) neutral(0.397) NULL ITGA10 8515 genome.wustl.edu 37 1 145537526 145537526 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003637.3 +1 reviewed p.F846V 1.000 621 0% 568 28.9% 0 - possibly_damaging(0.83) tolerated(0.15) deleterious(0.556) HMMPfam_Integrin_alpha2,superfamily_Integrin domains ANKRD35 148741 genome.wustl.edu 37 1 145549338 145549338 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144698.3 +1 validated p.S8P 1.000 38 0% 54 25.9% 0 - - - - NULL PDZK1 5174 genome.wustl.edu 37 1 145747117 145747117 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002614.3 +1 provisional p.R25Q 1.000 204 0% 222 26.1% 0 - possibly_damaging(0.943) tolerated(0.05) deleterious(0.733) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ PDZK1 5174 genome.wustl.edu 37 1 145748568 145748568 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002614.3 +1 provisional p.F147L 1.000 92 0% 94 30.9% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ FMO5 2330 genome.wustl.edu 37 1 146673055 146673055 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001461.2 -1 reviewed p.D288Y 1.000 270 0.4% 234 30.3% 0 - benign(0.015) deleterious(0.03) neutral(0.365) HMMPfam_FMO-like,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_FAD/NAD(P)-binding domain LOC100289179 100289179 genome.wustl.edu 37 1 146747861 146747861 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342114.1 -1 model p.D108Y 1.000 124 0% 169 30.8% 17 17.6% - - - NULL FCGR1A 2209 genome.wustl.edu 37 1 149761831 149761831 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000566.3 +1 reviewed p.E261K 0.788 43 0% 57 38.6% 18 0% probably_damaging(0.999) tolerated(0.22) deleterious(0.532) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin BOLA1 51027 genome.wustl.edu 37 1 149871663 149871663 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016074.3 +1 validated p.V17 0.953 18 0% 21 42.9% 3 0% - - - superfamily_BolA-like BOLA1 51027 genome.wustl.edu 37 1 149871843 149871843 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016074.3 +1 validated p.F77 0.967 29 0% 22 36.4% 5 0% - - - HMMPfam_BolA,superfamily_BolA-like MTMR11 10903 genome.wustl.edu 37 1 149906098 149906098 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181873.3 -1 validated p.F151 1.000 253 0% 239 31% 5 0% - - - HMMPfam_Myotub-related,superfamily_SSF52799 MTMR11 10903 genome.wustl.edu 37 1 149907229 149907229 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181873.3 -1 validated p.Y24 1.000 288 0% 231 34.2% 2 50% - - - superfamily_SSF50729 MRPS21 54460 genome.wustl.edu 37 1 150280627 150280627 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018997.2 +1 reviewed p.R77* 1.000 74 0% 78 35.9% 340 39.1% - - - NULL PRPF3 9129 genome.wustl.edu 37 1 150307679 150307679 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004698.2 +1 reviewed p.K334N 1.000 117 0% 105 12.4% 17 11.7% possibly_damaging(0.783) deleterious(0) deleterious(0.738) HMMPfam_PRP3 RPRD2 23248 genome.wustl.edu 37 1 150444919 150444919 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015203.3 +1 validated p.A1165 0.998 144 0% 98 30.6% 31 51.6% - - - NULL SEMA6C 10500 genome.wustl.edu 37 1 151110875 151110875 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030913.4 -1 reviewed p.S155L 0.981 43 0% 39 33.3% 1 0% probably_damaging(0.972) deleterious(0.02) deleterious(0.797) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain RFX5 5993 genome.wustl.edu 37 1 151315110 151315110 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000449.3 -1 reviewed p.R468H 1.000 431 0% 490 23.9% 12 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL SELENBP1 8991 genome.wustl.edu 37 1 151339310 151339310 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000424475 -1 known p.H145R 0.001 285 0% 279 31.5% 14 35.7% - - - HMMPfam_SBP56,superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase POGZ 23126 genome.wustl.edu 37 1 151377514 151377514 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015100.2 -1 reviewed p.D1333N 1.000 317 0% 359 30.9% 13 46.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CGN 57530 genome.wustl.edu 37 1 151496745 151496745 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020770.2 +1 validated p.R438* 0.034 62 0% 78 41% 8 0% - - - NULL SNX27 81609 genome.wustl.edu 37 1 151655871 151655871 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030918.5 +1 reviewed p.E397* 1.000 107 0% 100 30% 4 0% - - - NULL THEM5 284486 genome.wustl.edu 37 1 151823623 151823623 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182578.3 -1 validated p.G124* 0.997 54 0% 46 17.4% 2 0% - - - superfamily_SSF54637 HRNR 388697 genome.wustl.edu 37 1 152195694 152195694 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009931.1 -1 validated p.I12 0.000 171 0% 116 29.3% 0 - - - - HMMPfam_S_100,superfamily_SSF47473 FLG 2312 genome.wustl.edu 37 1 152279606 152279606 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002016.1 -1 reviewed p.S2586P 0.017 422 0% 304 24% 0 - unknown(0) deleterious(0) - NULL FLG 2312 genome.wustl.edu 37 1 152285773 152285773 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002016.1 -1 reviewed p.S530F 0.004 344 0.3% 284 30.6% 0 - benign(0.196) deleterious(0.04) neutral(0.367) NULL FLG2 388698 genome.wustl.edu 37 1 152326872 152326872 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001014342.2 -1 provisional p.Q1130 0.000 508 0% 424 29.5% 0 - - - - NULL FLG2 388698 genome.wustl.edu 37 1 152327190 152327190 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001014342.2 -1 provisional p.G1024 0.002 700 0.3% 537 28.9% 0 - - - - HMMPfam_SVS_QK FLG2 388698 genome.wustl.edu 37 1 152327772 152327772 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001014342.2 -1 provisional p.S830 0.000 715 0.1% 595 31.4% 0 - - - - NULL CRNN 49860 genome.wustl.edu 37 1 152382182 152382182 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016190.2 -1 reviewed p.N459S 0.008 224 0% 205 32.2% 0 - benign(0) tolerated(1) - NULL LCE3E 353145 genome.wustl.edu 37 1 152538491 152538491 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178435.2 -1 validated p.R65H 0.988 162 0% 141 18.4% 0 - unknown(0) - - NULL LCE4A 199834 genome.wustl.edu 37 1 152681622 152681622 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178356.2 +1 validated p.K24T 0.008 235 0% 251 27.1% 0 - unknown(0) - - NULL IVL 3713 genome.wustl.edu 37 1 152882277 152882277 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005547.2 +1 reviewed p.S2A 1.000 133 0.8% 121 24% 1 100% unknown(0) deleterious(0) - HMMPfam_Involucrin_N,PatternScan_INVOLUCRIN IVL 3713 genome.wustl.edu 37 1 152882632 152882632 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005547.2 +1 reviewed p.N120S 0.000 215 0% 208 29.8% 0 - unknown(0) tolerated(0.45) - NULL SPRR2E 6704 genome.wustl.edu 37 1 153066117 153066117 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001024209.2 -1 validated p.P37 0.000 464 0% 382 27.2% 0 - - - - NULL PGLYRP4 57115 genome.wustl.edu 37 1 153315607 153315607 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020393.2 -1 validated p.N144S 0.983 297 0% 317 27.8% 0 - possibly_damaging(0.775) deleterious(0) deleterious(0.733) HMMPfam_Amidase_2,HMMSmart_SM00644,superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701 S100A7 6278 genome.wustl.edu 37 1 153430401 153430401 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002963.3 -1 reviewed p.D63Y 0.011 215 0% 217 23% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_S100_CABP,PatternScan_EF_HAND_1,superfamily_SSF47473 ILF2 3608 genome.wustl.edu 37 1 153636900 153636900 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004515.2 -1 reviewed p.W210G 1.000 182 0% 138 27.5% 482 41.9% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_DZF,HMMSmart_SM00572 ENSG00000234010 0 genome.wustl.edu 37 1 153907566 153907566 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000413970 +1 known NULL 0.000 16 0% 17 29.4% 0 - - - - - RAB13 5872 genome.wustl.edu 37 1 153955043 153955043 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002870.2 -1 provisional p.T150P 1.000 156 0% 193 31.6% 149 39.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 NUP210L 91181 genome.wustl.edu 37 1 154090291 154090291 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207308.2 -1 validated p.T510 0.106 174 0% 175 40% 0 - - - - superfamily_Invasin_intimin C1orf43 25912 genome.wustl.edu 37 1 154192369 154192369 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098616.1 -1 validated p.R37 0.999 58 0% 46 28.3% 119 31.9% - - - HMMPfam_NICE-3 TDRD10 126668 genome.wustl.edu 37 1 154517359 154517359 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098475.1 +1 validated p.R296C 0.061 176 0% 169 10.7% 0 - probably_damaging(1) - - HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT FLAD1 80308 genome.wustl.edu 37 1 154965222 154965222 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025207.4 +1 reviewed p.R530C 1.000 152 0% 178 15.2% 57 28% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAPS_reduct,superfamily_Adenine nucleotide alpha hydrolases-like ZBTB7B 51043 genome.wustl.edu 37 1 154987340 154987340 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015872.2 +1 validated p.G68 0.768 145 0% 98 30.6% 14 21.4% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB KRTCAP2 200185 genome.wustl.edu 37 1 155145087 155145087 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173852.3 -1 validated p.E85D 1.000 191 0% 164 18.3% 396 16.6% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_Keratin_assoc RUSC1-AS1 284618 genome.wustl.edu 37 1 155290615 155290615 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039517.1 -1 predicted p.A222V 0.000 69 0% 96 34.4% 0 - - - - NULL ASH1L 55870 genome.wustl.edu 37 1 155448327 155448327 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018489.2 -1 reviewed p.K1445T 1.000 182 0% 180 24.4% 4 50% possibly_damaging(0.917) deleterious(0) deleterious(0.812) NULL ASH1L 55870 genome.wustl.edu 37 1 155449676 155449676 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018489.2 -1 reviewed p.K995N 1.000 236 0% 232 30.2% 0 - possibly_damaging(0.917) deleterious(0) deleterious(0.812) NULL ASH1L 55870 genome.wustl.edu 37 1 155491082 155491082 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018489.2 -1 reviewed p.E77* 1.000 994 0% 982 30.3% 0 - - - - NULL MSTO1 55154 genome.wustl.edu 37 1 155582702 155582702 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018116.2 +1 validated p.R345H 1.000 89 0% 92 30.4% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Tubulin nucleotide-binding domain-like YY1AP1 55249 genome.wustl.edu 37 1 155646361 155646361 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139118.1 -1 reviewed p.R167I 0.979 315 0% 305 27.5% 28 35.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GON4L 54856 genome.wustl.edu 37 1 155726770 155726770 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037533.1 -1 validated p.I1832 0.940 111 0% 116 31% 7 42.8% - - - NULL GON4L 54856 genome.wustl.edu 37 1 155735914 155735914 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037533.1 -1 validated p.R1117Q 0.013 126 0.8% 122 34.4% 6 66.6% possibly_damaging(0.9) tolerated(0.14) deleterious(0.606) NULL SYT11 23208 genome.wustl.edu 37 1 155850988 155850988 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152280.4 +1 reviewed e4-1 1.000 478 0% 437 25.4% 0 - - - - - KIAA0907 22889 genome.wustl.edu 37 1 155896610 155896610 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014949.2 -1 predicted p.E180* 1.000 144 0% 141 35.5% 6 33.3% - - - superfamily_Eukaryotic type KH-domain (KH-domain type I) RXFP4 339403 genome.wustl.edu 37 1 155911539 155911539 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181885.2 +1 validated p.F13L 0.951 135 0% 112 31.2% 1 0% benign(0) tolerated(0.95) - superfamily_SSF81321 PMF1 11243 genome.wustl.edu 37 1 156202162 156202162 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007221.2 +1 validated p.A71 0.643 185 0% 178 32% 72 41.6% - - - HMMPfam_Nnf1 SMG5 23381 genome.wustl.edu 37 1 156228859 156228859 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015327.2 -1 validated p.F793 0.994 30 0% 27 29.6% 29 31% - - - NULL CCT3 7203 genome.wustl.edu 37 1 156294827 156294827 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005998.3 -1 reviewed p.T120A 0.996 70 0% 41 31.7% 177 42.9% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase INSRR 3645 genome.wustl.edu 37 1 156812241 156812241 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014215.1 -1 validated p.M1062I 1.000 199 0% 126 22.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like NTRK1 4914 genome.wustl.edu 37 1 156848967 156848967 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002529.3 +1 reviewed p.G620D 0.911 48 0% 57 31.6% 0 - probably_damaging(0.979) tolerated(0.23) neutral(0.463) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PEAR1 375033 genome.wustl.edu 37 1 156884574 156884574 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080471.1 +1 provisional p.R1033Q 0.019 70 0% 36 41.7% 0 - possibly_damaging(0.929) deleterious(0) deleterious(0.821) NULL FCRL5 83416 genome.wustl.edu 37 1 157516862 157516862 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031281.2 -1 validated p.R60W 0.000 153 0% 138 31.9% 3 0% benign(0.004) tolerated(0.1) neutral(0.286) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCRL4 83417 genome.wustl.edu 37 1 157548550 157548550 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000438714 -1 known p.S457F 0.000 31 0% 46 34.8% 0 - - - - NULL FCRL4 83417 genome.wustl.edu 37 1 157559026 157559026 + Missense_Mutation SNP C C T rs138667797 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031282.2 -1 reviewed p.R92Q 0.000 183 0% 176 27.3% 0 - benign(0.002) tolerated(0.18) neutral(0.056) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin FCRL3 115352 genome.wustl.edu 37 1 157668291 157668291 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052939.3 -1 reviewed p.D61N 0.000 184 0% 158 33.5% 0 - benign(0) tolerated(0.46) neutral(0.012) HMMSmart_SM00409,superfamily_Immunoglobulin KIRREL 55243 genome.wustl.edu 37 1 158064182 158064182 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018240.5 +1 validated e14+2 0.997 33 0% 29 44.8% 0 - - - - - CD1C 911 genome.wustl.edu 37 1 158261938 158261938 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001765.2 +1 reviewed p.F131L 0.009 668 0% 678 33.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog OR10T2 128360 genome.wustl.edu 37 1 158368614 158368614 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004475.1 -1 provisional p.I215L 0.833 113 0% 94 23.4% 0 - possibly_damaging(0.601) deleterious(0.04) deleterious(0.557) HMMPfam_7tm_1,superfamily_SSF81321 OR10T2 128360 genome.wustl.edu 37 1 158368668 158368668 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004475.1 -1 provisional p.E197* 0.716 119 0% 121 28.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR10K2 391107 genome.wustl.edu 37 1 158389756 158389756 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004476.1 -1 provisional p.L301I 0.582 136 0% 150 31.3% 0 - benign(0.01) tolerated(0.09) neutral(0.297) superfamily_SSF81321 OR10K2 391107 genome.wustl.edu 37 1 158390348 158390348 + Silent SNP G G T rs191673533 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004476.1 -1 provisional p.S103 0.005 428 0.2% 374 31.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158589094 158589094 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003126.2 -1 reviewed p.A2150T 0.003 253 0% 238 28.2% 0 - benign(0.018) tolerated(0.06) neutral(0.323) superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158615027 158615027 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003126.2 -1 reviewed p.K1382M 1.000 310 0% 260 25.8% 0 - benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158621162 158621162 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003126.2 -1 reviewed p.R1158W 0.473 165 0% 142 33.1% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158626432 158626432 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003126.2 -1 reviewed p.K940 0.998 196 0% 197 27.9% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158655006 158655006 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003126.2 -1 reviewed p.S52 0.999 185 0.5% 174 32.8% 0 - - - - superfamily_Spectrin repeat OR6K2 81448 genome.wustl.edu 37 1 158670372 158670372 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005279.1 -1 provisional p.S24Y 0.005 395 0% 314 19.1% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_Family A G protein-coupled receptor-like OR6N1 128372 genome.wustl.edu 37 1 158736164 158736164 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005185.1 -1 provisional p.F103L 1.000 258 0% 274 19.7% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_7tm_1,superfamily_SSF81321 OR6N2 81442 genome.wustl.edu 37 1 158747148 158747148 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005278.1 -1 provisional p.S93Y 1.000 747 0.1% 752 30.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 MNDA 4332 genome.wustl.edu 37 1 158813174 158813174 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002432.1 +1 reviewed p.S124L 0.000 77 0% 97 27.8% 2 0% benign(0.353) tolerated(0.07) neutral(0.430) NULL MNDA 4332 genome.wustl.edu 37 1 158815720 158815720 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002432.1 +1 reviewed p.K305T 0.000 177 0% 177 28.8% 13 0% possibly_damaging(0.719) tolerated(0.36) neutral(0.281) HMMPfam_HIN PYHIN1 149628 genome.wustl.edu 37 1 158906748 158906748 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152501.3 +1 validated p.V16 0.000 192 0% 155 26.5% 0 - - - - HMMPfam_PAAD_DAPIN PYHIN1 149628 genome.wustl.edu 37 1 158911835 158911835 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152501.3 +1 validated p.I216 0.017 112 0% 72 30.6% 1 0% - - - HMMPfam_HIN IFI16 3428 genome.wustl.edu 37 1 158984515 158984515 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005531.2 +1 reviewed p.E15D 0.000 243 0% 200 16% 8 0% possibly_damaging(0.45) deleterious(0.04) deleterious(0.496) HMMPfam_PAAD_DAPIN,superfamily_DEATH_like IFI16 3428 genome.wustl.edu 37 1 158984677 158984677 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005531.2 +1 reviewed p.F69 0.000 343 0% 285 31.6% 16 0% - - - HMMPfam_PAAD_DAPIN,superfamily_DEATH_like AIM2 9447 genome.wustl.edu 37 1 159035917 159035917 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004833.1 -1 reviewed p.K200T 0.012 258 0% 193 13.5% 2 0% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_HIN AIM2 9447 genome.wustl.edu 37 1 159035991 159035991 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004833.1 -1 reviewed p.E175D 0.389 291 0% 212 34% 2 0% benign(0.256) tolerated(0.22) neutral(0.069) HMMPfam_HIN AIM2 9447 genome.wustl.edu 37 1 159043239 159043239 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004833.1 -1 reviewed p.I17 0.003 234 0% 209 30.6% 1 0% - - - HMMPfam_PAAD_DAPIN,superfamily_DEATH_like FCER1A 2205 genome.wustl.edu 37 1 159273786 159273786 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002001.2 +1 reviewed p.L49I 0.114 139 0% 148 23.6% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 OR10J1 26476 genome.wustl.edu 37 1 159410228 159410228 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012351.2 +1 validated p.S227Y 0.975 206 0% 212 34.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10J5 127385 genome.wustl.edu 37 1 159504990 159504990 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004469.1 -1 provisional p.D270Y 0.997 249 0% 174 27.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TAGLN2 8407 genome.wustl.edu 37 1 159890243 159890243 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003564.1 -1 reviewed p.E19 1.000 56 0% 75 22.7% 775 44.5% - - - superfamily_Calponin-homology IGSF9 57549 genome.wustl.edu 37 1 159901685 159901685 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135050.1 -1 validated p.E427* 1.000 170 0% 146 24.7% 4 0% - - - superfamily_SSF48726 IGSF8 93185 genome.wustl.edu 37 1 160064854 160064854 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052868.2 -1 provisional p.D83N 1.000 162 0% 127 33.1% 96 36.4% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ATP1A2 477 genome.wustl.edu 37 1 160105654 160105654 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000702.3 +1 reviewed p.K770N 1.000 286 0% 338 30.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81665 ATP1A4 480 genome.wustl.edu 37 1 160141530 160141530 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144699.3 +1 reviewed p.R613C 1.000 181 0% 166 36.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M PEX19 5824 genome.wustl.edu 37 1 160253319 160253319 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002857.3 -1 reviewed e2+1 1.000 32 0% 36 38.9% 0 - - - - - PEX19 5824 genome.wustl.edu 37 1 160253339 160253339 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002857.3 -1 reviewed p.S54L 1.000 36 0% 39 30.8% 8 75% benign(0.079) tolerated(0.24) neutral(0.043) NULL COPA 1314 genome.wustl.edu 37 1 160295403 160295403 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098398.1 -1 reviewed p.S179L 0.999 307 0% 203 31% 55 41.8% benign(0.003) tolerated(0.37) neutral(0.019) superfamily_WD40_like COPA 1314 genome.wustl.edu 37 1 160305094 160305094 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098398.1 -1 reviewed p.R83W 1.000 100 0% 56 26.8% 51 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 CD48 962 genome.wustl.edu 37 1 160648862 160648862 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001778.2 -1 provisional p.L238I 0.000 170 0% 175 28.6% 22 0% possibly_damaging(0.49) tolerated(0.55) neutral(0.170) NULL SLAMF7 57823 genome.wustl.edu 37 1 160722947 160722947 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021181.3 +1 provisional p.A330S 0.000 110 0% 96 28.1% 6 0% benign(0) tolerated(0.9) - NULL LY9 4063 genome.wustl.edu 37 1 160769685 160769685 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002348.2 +1 validated p.F89 0.000 175 0% 123 34.1% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin CD244 51744 genome.wustl.edu 37 1 160808276 160808276 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016382.3 -1 reviewed p.E267K 0.995 254 0% 234 24.8% 0 - probably_damaging(0.995) tolerated(0.15) deleterious(0.699) NULL ITLN1 55600 genome.wustl.edu 37 1 160851887 160851887 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017625.2 -1 validated p.D89Y 0.109 123 0% 130 36.9% 0 - benign(0) tolerated(0.08) neutral(0.300) superfamily_Fibrinogen C-terminal domain-like ITLN2 142683 genome.wustl.edu 37 1 160922485 160922485 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080878.2 -1 validated p.E40K 0.000 120 0% 105 31.4% 0 - possibly_damaging(0.602) tolerated(0.22) neutral(0.251) superfamily_Fibrinogen C-terminal domain-like USF1 7391 genome.wustl.edu 37 1 161012364 161012364 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007122.3 -1 reviewed p.R52Q 1.000 64 0% 52 34.6% 10 10% probably_damaging(0.958) deleterious(0.02) deleterious(0.784) NULL ARHGAP30 257106 genome.wustl.edu 37 1 161018629 161018629 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001025598.1 -1 validated p.S728R 0.000 690 0% 531 28.8% 9 11.1% benign(0) tolerated(0.07) neutral(0.319) NULL ARHGAP30 257106 genome.wustl.edu 37 1 161024200 161024200 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001025598.1 -1 validated p.M164I 1.000 14 0% 18 33.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP NIT1 4817 genome.wustl.edu 37 1 161089367 161089367 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005600.1 +1 provisional p.K141T 1.000 52 0% 82 29.3% 33 36.3% possibly_damaging(0.864) deleterious(0.02) deleterious(0.718) HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase B4GALT3 8703 genome.wustl.edu 37 1 161145604 161145604 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003779.2 -1 reviewed p.L83I 0.976 675 0% 683 31.6% 28 39.2% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases HSPA6 3310 genome.wustl.edu 37 1 161495037 161495037 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002155.3 +1 validated p.V197M 0.996 28 0% 16 43.8% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_HSP70,superfamily_Actin-like ATPase domain FCGR2C 9103 genome.wustl.edu 37 1 161569434 161569434 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201563.4 +1 reviewed p.Q271H 0.005 129 0% 143 30.1% 8 0% possibly_damaging(0.842) tolerated(0.07) deleterious(0.641) NULL ATF6 22926 genome.wustl.edu 37 1 161789484 161789484 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007348.2 +1 validated p.R324H 1.000 132 0% 146 36.3% 15 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1 ATF6 22926 genome.wustl.edu 37 1 161790891 161790891 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007348.2 +1 validated p.R376Q 1.000 188 0% 179 30.2% 13 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ATF6 22926 genome.wustl.edu 37 1 161833097 161833097 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007348.2 +1 validated p.R572* 1.000 130 0% 109 25.7% 31 3.2% - - - NULL OLFML2B 25903 genome.wustl.edu 37 1 161970098 161970098 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015441.1 -1 provisional p.V252M 0.995 94 0% 123 23.6% 29 0% possibly_damaging(0.746) deleterious(0.02) deleterious(0.657) NULL DDR2 4921 genome.wustl.edu 37 1 162745581 162745581 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001014796.1 +1 reviewed p.L666I 1.000 400 0% 341 28.4% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like RGS4 5999 genome.wustl.edu 37 1 163039240 163039240 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102445.2 +1 reviewed p.S86Y 0.000 51 0% 54 48.1% 0 - unknown(0) deleterious(0) - NULL RGS4 5999 genome.wustl.edu 37 1 163043373 163043373 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102445.2 +1 reviewed p.K210N 1.000 130 0% 126 11.9% 3 0% benign(0.059) tolerated(0.08) neutral(0.304) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam RGS4 5999 genome.wustl.edu 37 1 163044194 163044194 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102445.2 +1 reviewed p.K251N 1.000 582 0% 532 31.4% 3 0% benign(0.186) tolerated(0.14) neutral(0.267) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam RXRG 6258 genome.wustl.edu 37 1 165378874 165378874 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006917.3 -1 reviewed p.D323Y 1.000 27 0% 52 28.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor RXRG 6258 genome.wustl.edu 37 1 165397995 165397995 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006917.3 -1 reviewed p.A86 0.727 63 0% 59 45.8% 0 - - - - NULL LRRC52 440699 genome.wustl.edu 37 1 165513903 165513903 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005214.3 +1 validated p.L124I 0.987 406 0% 422 30.8% 0 - probably_damaging(0.999) tolerated(0.41) deleterious(0.505) HMMPfam_LRR_1,superfamily_SSF52058 TMCO1 54499 genome.wustl.edu 37 1 165721402 165721402 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019026.3 -1 validated p.R87Q 1.000 103 0% 81 27.2% 163 35.5% possibly_damaging(0.493) deleterious(0) deleterious(0.609) HMMPfam_DUF841 TMCO1 54499 genome.wustl.edu 37 1 165723481 165723481 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019026.3 -1 validated p.N80T 1.000 119 0% 78 35.9% 145 56.5% possibly_damaging(0.675) deleterious(0.01) deleterious(0.645) HMMPfam_DUF841 POGK 57645 genome.wustl.edu 37 1 166818706 166818706 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017542.3 +1 reviewed p.N297S 1.000 86 0% 106 36.8% 15 33.3% benign(0.388) tolerated(0.11) neutral(0.396) HMMSmart_SM00674,superfamily_Homeodomain-like,HMMPfam_CenpB-DNA-bind ILDR2 387597 genome.wustl.edu 37 1 166927298 166927298 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199351.1 -1 provisional p.K29N 1.000 201 0% 195 33.3% 0 - possibly_damaging(0.922) tolerated(0.09) deleterious(0.668) HMMSmart_IG,superfamily_SSF48726 MAEL 84944 genome.wustl.edu 37 1 166959019 166959019 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032858.1 +1 validated p.E60* 0.984 48 0% 34 14.7% 0 - - - - superfamily_HMG-box,HMMPfam_DUF1898 POU2F1 5451 genome.wustl.edu 37 1 167341173 167341173 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002697.2 +1 provisional p.S78L 0.985 423 0% 481 30.1% 3 66.6% possibly_damaging(0.908) deleterious(0) deleterious(0.806) NULL POU2F1 5451 genome.wustl.edu 37 1 167353143 167353143 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002697.2 +1 provisional p.Q233 1.000 233 0% 207 25.6% 1 100% - - - NULL CREG1 8804 genome.wustl.edu 37 1 167515477 167515477 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003851.2 -1 reviewed p.R174* 0.986 58 0% 48 27.1% 47 2.1% - - - superfamily_FMN-binding split barrel ADCY10 55811 genome.wustl.edu 37 1 167814993 167814993 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018417.4 -1 reviewed p.E939K 0.997 111 0% 96 30.2% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL DCAF6 55827 genome.wustl.edu 37 1 167962640 167962640 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018442.2 +1 validated p.E289K 1.000 88 0% 89 33.7% 15 40% probably_damaging(0.982) tolerated(0.52) neutral(0.435) superfamily_WD40_like DCAF6 55827 genome.wustl.edu 37 1 168044653 168044653 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018442.2 +1 validated p.E875* 1.000 94 0% 87 25.3% 33 36.3% - - - NULL GPR161 23432 genome.wustl.edu 37 1 168066442 168066442 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153832.1 -1 provisional p.Y135H 1.000 119 0% 69 26.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like BLZF1 8548 genome.wustl.edu 37 1 169345936 169345936 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003666.2 +1 validated p.L63I 1.000 317 0% 249 30.5% 10 0% probably_damaging(1) tolerated(0.24) deleterious(0.537) NULL C1orf114 57821 genome.wustl.edu 37 1 169391220 169391220 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021179.1 -1 predicted p.R150Q 0.799 350 0% 293 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC19A2 10560 genome.wustl.edu 37 1 169435152 169435152 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006996.2 -1 reviewed p.S477R 0.996 196 0% 176 27.8% 15 86.6% benign(0.132) tolerated(0.62) neutral(0.015) superfamily_MFS general substrate transporter F5 2153 genome.wustl.edu 37 1 169511959 169511959 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000130.4 -1 reviewed p.N790S 0.010 464 0% 408 29.9% 1 0% benign(0.085) deleterious(0.01) neutral(0.412) NULL SELP 6403 genome.wustl.edu 37 1 169565238 169565238 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003005.3 -1 reviewed p.F676I 0.969 780 0% 777 31.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SELL 6402 genome.wustl.edu 37 1 169672435 169672435 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000655.4 -1 reviewed p.S305A 0.074 48 0% 53 20.8% 0 - benign(0.008) tolerated(1) - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module SELL 6402 genome.wustl.edu 37 1 169676499 169676499 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000655.4 -1 reviewed p.G188 0.975 205 0% 153 34% 6 0% - - - HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 METTL18 92342 genome.wustl.edu 37 1 169761782 169761782 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033418.1 -1 provisional p.L352R 0.464 96 0% 83 25.3% 4 75% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_S-adenosyl-L-methionine-dependent methyltransferases C1orf112 55732 genome.wustl.edu 37 1 169777011 169777011 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018186.2 +1 predicted p.L215I 0.752 256 0.8% 170 35.3% 5 40% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL C1orf129 80133 genome.wustl.edu 37 1 170961422 170961422 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025063.2 +1 validated p.T382 0.000 267 0% 193 23.8% 0 - - - - NULL C1orf129 80133 genome.wustl.edu 37 1 170965723 170965723 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000426136 +1 known p.E78* 0.001 375 0% 230 14.3% 0 - benign(0.025) tolerated(0.17) neutral(0.060) NULL PRRC2C 23215 genome.wustl.edu 37 1 171482160 171482160 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015172.3 +1 validated p.L45I 1.000 223 0% 189 29.1% 6 66.6% unknown(0) - - HMMPfam_BAT2_N C1orf9 51430 genome.wustl.edu 37 1 172539284 172539284 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014283.3 +1 validated p.K318N 1.000 46 0% 23 43.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Galactose-binding domain-like C1orf9 51430 genome.wustl.edu 37 1 172579251 172579251 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014283.3 +1 validated p.R1206Q 1.000 291 0% 230 28.7% 9 11.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL TNFSF4 7292 genome.wustl.edu 37 1 173157689 173157689 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003326.3 -1 reviewed p.R58Q 0.391 201 0% 142 12% 0 - possibly_damaging(0.516) tolerated(0.08) deleterious(0.473) NULL LOC646870 646870 genome.wustl.edu 37 1 173332765 173332765 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_040282.2 -1 model NULL 0.762 124 0% 89 33.7% 0 - - - - - PRDX6 9588 genome.wustl.edu 37 1 173456983 173456983 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004905.2 +1 reviewed p.R219H 1.000 121 0% 159 30.8% 305 44.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Thioredoxin-like ANKRD45 339416 genome.wustl.edu 37 1 173628241 173628241 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198493.2 -1 validated p.K106T 0.872 188 0% 155 35.5% 0 - benign(0.15) tolerated(0.37) neutral(0.032) HMMPfam_Ank,superfamily_Ankyrin repeat KLHL20 27252 genome.wustl.edu 37 1 173703126 173703126 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014458.3 +1 reviewed p.E100K 1.000 215 0% 205 30.2% 5 20% benign(0.01) tolerated(0.05) neutral(0.346) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB DARS2 55157 genome.wustl.edu 37 1 173822993 173822993 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018122.4 +1 reviewed p.R542* 1.000 87 0% 79 19% 34 0% - - - HMMPfam_tRNA-synt_2,superfamily_SSF55681 RC3H1 149041 genome.wustl.edu 37 1 173951907 173951907 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172071.2 -1 validated p.I242 0.998 367 0% 258 21.3% 0 - - - - NULL RABGAP1L 9910 genome.wustl.edu 37 1 174210750 174210750 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014857.3 +1 validated p.S224 0.998 143 0% 100 22% 2 0% - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like TNN 63923 genome.wustl.edu 37 1 175049316 175049316 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022093.1 +1 validated p.L268 0.964 73 0% 27 25.9% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060 TNN 63923 genome.wustl.edu 37 1 175087821 175087821 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022093.1 +1 validated p.E837D 0.916 236 0% 195 34.4% 0 - benign(0.007) tolerated(0.63) neutral(0.004) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNR 7143 genome.wustl.edu 37 1 175299322 175299322 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003285.2 -1 validated p.R1227 0.001 216 0% 253 39.5% 0 - - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like TNR 7143 genome.wustl.edu 37 1 175325554 175325554 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003285.2 -1 validated p.R1007W 1.000 235 0% 181 34.3% 0 - possibly_damaging(0.893) deleterious(0.03) deleterious(0.716) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RFWD2 64326 genome.wustl.edu 37 1 176132077 176132077 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022457.5 -1 validated p.Q230H 1.000 160 0% 150 31.3% 19 31.5% possibly_damaging(0.808) tolerated(0.12) deleterious(0.565) NULL PAPPA2 60676 genome.wustl.edu 37 1 176563750 176563750 + Missense_Mutation SNP G G A rs150105070 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020318.2 +1 validated p.R337H 1.000 138 0.7% 92 22.8% 0 - probably_damaging(0.98) tolerated(0.07) deleterious(0.743) HMMSmart_SM00560,superfamily_Concanavalin A-like lectins/glucanases PAPPA2 60676 genome.wustl.edu 37 1 176564207 176564207 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020318.2 +1 validated p.E489D 0.735 186 0% 159 28.3% 0 - benign(0.178) tolerated(0.24) neutral(0.054) NULL PAPPA2 60676 genome.wustl.edu 37 1 176564676 176564676 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020318.2 +1 validated p.D646N 0.998 102 0% 83 28.9% 0 - possibly_damaging(0.866) tolerated(0.34) neutral(0.359) "superfamily_Metalloproteases (""zincins"") catalytic domain" SEC16B 89866 genome.wustl.edu 37 1 177911106 177911106 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033127.2 -1 validated p.E651K 1.000 98 0% 95 33.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SEC16B 89866 genome.wustl.edu 37 1 177934260 177934260 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033127.2 -1 validated p.R152Q 0.002 32 0% 30 16.7% 0 - benign(0.018) tolerated(0.36) neutral(0.021) NULL SEC16B 89866 genome.wustl.edu 37 1 177937094 177937094 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033127.2 -1 validated p.R8M 0.001 48 0% 42 21.4% 0 - possibly_damaging(0.888) tolerated(0.05) deleterious(0.693) NULL RASAL2 9462 genome.wustl.edu 37 1 178423602 178423602 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170692.2 +1 reviewed p.Y659C 1.000 285 0% 228 30.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_RasGAP,superfamily_Rho_GAP C1orf49 84066 genome.wustl.edu 37 1 178485789 178485789 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032126.4 +1 validated p.E86K 0.998 63 0% 29 24.1% 0 - benign(0.313) deleterious(0) deleterious(0.542) NULL ANGPTL1 9068 genome.wustl.edu 37 1 178834782 178834782 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004673.3 -1 reviewed p.E44* 1.000 180 0% 217 34.1% 0 - - - - NULL ABL2 27 genome.wustl.edu 37 1 179077329 179077329 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007314.3 -1 reviewed p.A1025T 1.000 112 0% 79 26.6% 3 0% benign(0.087) tolerated(0.1) neutral(0.293) HMMPfam_F_actin_bind ABL2 27 genome.wustl.edu 37 1 179078125 179078125 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007314.3 -1 reviewed p.K759N 1.000 103 0% 81 38.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ABL2 27 genome.wustl.edu 37 1 179100501 179100501 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007314.3 -1 reviewed p.F112 0.997 163 0% 175 29.7% 0 - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain SOAT1 6646 genome.wustl.edu 37 1 179292605 179292605 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003101.4 +1 provisional p.K51T 1.000 76 0% 68 32.4% 3 0% possibly_damaging(0.561) deleterious(0.03) deleterious(0.556) NULL AXDND1 126859 genome.wustl.edu 37 1 179494534 179494534 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144696.4 +1 validated p.S854 0.000 144 0% 157 33.1% 0 - - - - NULL NPHS2 7827 genome.wustl.edu 37 1 179526197 179526197 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014625.2 -1 reviewed p.L235I 1.000 88 0% 116 33.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Band_7,HMMSmart_SM00244 NPHS2 7827 genome.wustl.edu 37 1 179533877 179533877 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014625.2 -1 reviewed p.S109F 0.968 166 0.6% 157 33.8% 0 - unknown(0) deleterious(0) - NULL TDRD5 163589 genome.wustl.edu 37 1 179562608 179562608 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173533.2 +1 provisional p.E82 1.000 111 0% 55 29.1% 0 - - - - NULL TDRD5 163589 genome.wustl.edu 37 1 179632482 179632482 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173533.2 +1 provisional e14-1 0.882 298 0% 174 24.1% 0 - - - - - TDRD5 163589 genome.wustl.edu 37 1 179660016 179660016 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173533.2 +1 provisional p.R962W 0.050 65 0% 60 36.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TOR1AIP2 163590 genome.wustl.edu 37 1 179815330 179815330 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145034.3 -1 validated p.D430G 0.002 113 0% 136 34.6% 0 - benign(0.009) tolerated(0.5) neutral(0.011) HMMPfam_LAP1C CEP350 9857 genome.wustl.edu 37 1 180006096 180006096 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014810.4 +1 reviewed p.R1328C 1.000 18 0% 18 22.2% 1 100% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL CEP350 9857 genome.wustl.edu 37 1 180022189 180022189 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014810.4 +1 reviewed p.S1626* 1.000 161 0% 141 29.8% 0 - - - - NULL CEP350 9857 genome.wustl.edu 37 1 180061833 180061833 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014810.4 +1 reviewed p.R2198Q 0.000 52 0% 27 44.4% 0 - benign(0.038) tolerated(0.46) neutral(0.014) NULL QSOX1 5768 genome.wustl.edu 37 1 180153184 180153184 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002826.4 +1 reviewed p.R296C 1.000 312 0% 263 27% 122 48.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ACBD6 84320 genome.wustl.edu 37 1 180461490 180461490 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032360.3 -1 validated p.K100E 1.000 173 0% 122 28.7% 51 45% probably_damaging(0.981) tolerated(0.06) deleterious(0.748) HMMPfam_ACBP,superfamily_ACBP XPR1 9213 genome.wustl.edu 37 1 180849378 180849378 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004736.3 +1 validated p.R659W 1.000 157 0% 136 37.5% 22 59% possibly_damaging(0.912) deleterious(0) deleterious(0.808) NULL MR1 3140 genome.wustl.edu 37 1 181018257 181018257 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001531.1 +1 provisional p.S46L 0.095 56 0% 34 32.4% 2 0% probably_damaging(0.955) tolerated(0.13) deleterious(0.651) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain MR1 3140 genome.wustl.edu 37 1 181018422 181018422 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001531.1 +1 provisional p.R101H 0.000 31 0% 21 28.6% 3 0% benign(0.003) deleterious(0.05) neutral(0.345) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain MR1 3140 genome.wustl.edu 37 1 181021641 181021641 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001531.1 +1 provisional p.P292L 0.006 57 0% 38 28.9% 4 0% benign(0.139) tolerated(0.07) neutral(0.331) superfamily_Immunoglobulin CACNA1E 777 genome.wustl.edu 37 1 181684473 181684473 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000721.2 +1 reviewed e9-1 1.000 35 0% 27 14.8% 0 - - - - - CACNA1E 777 genome.wustl.edu 37 1 181701978 181701978 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000721.2 +1 reviewed p.R919Q 1.000 133 0% 95 20% 0 - probably_damaging(0.997) tolerated(0.14) deleterious(0.716) NULL CACNA1E 777 genome.wustl.edu 37 1 181702645 181702645 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000721.2 +1 reviewed p.V1007 0.002 83 0% 67 25.4% 0 - - - - NULL CACNA1E 777 genome.wustl.edu 37 1 181705487 181705487 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000721.2 +1 reviewed p.K1113N 0.974 31 0% 24 29.2% 0 - benign(0.263) tolerated(0.08) neutral(0.328) superfamily_Voltage-gated potassium channels ZNF648 127665 genome.wustl.edu 37 1 182026755 182026755 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009992.1 -1 provisional p.A131T 0.000 86 0% 77 22.1% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL ZNF648 127665 genome.wustl.edu 37 1 182027057 182027057 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009992.1 -1 provisional p.S30I 0.019 121 0% 100 41% 0 - probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL ZNF648 127665 genome.wustl.edu 37 1 182027108 182027108 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009992.1 -1 provisional p.A13V 0.000 103 0% 95 24.2% 0 - benign(0) tolerated(1) - NULL TEDDM1 127670 genome.wustl.edu 37 1 182369115 182369115 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172000.3 -1 validated p.S169Y 1.000 123 0% 157 29.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF716 RNASEL 6041 genome.wustl.edu 37 1 182545506 182545506 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021133.2 -1 reviewed p.K642E 0.000 80 0% 80 33.8% 0 - benign(0) tolerated(0.59) neutral(0.004) HMMPfam_Ribonuc_2-5A SHCBP1L 81626 genome.wustl.edu 37 1 182869308 182869308 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030933.2 -1 validated p.G591V 1.000 88 0% 72 31.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_PbH1,superfamily_Pectin_lyas_like SHCBP1L 81626 genome.wustl.edu 37 1 182921884 182921884 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030933.2 -1 validated p.E129K 0.878 14 0.000 9 0.444 0 - benign(0.004) tolerated(0.2) neutral(0.049) NULL LAMC1 3915 genome.wustl.edu 37 1 183111751 183111751 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002293.3 +1 reviewed p.S1552 0.327 152 0% 98 33.7% 211 41.2% - - - NULL SMG7 9887 genome.wustl.edu 37 1 183486803 183486803 + Nonstop_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000444547 +1 known p.*74Y 1.000 197 0% 165 25.5% 1 0% - - - NULL RGL1 23179 genome.wustl.edu 37 1 183885604 183885604 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015149.3 +1 validated p.C626 0.985 222 0% 218 41.3% 3 0% - - - NULL GLT25D2 23127 genome.wustl.edu 37 1 183914602 183914602 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015101.2 -1 validated p.I411 0.126 325 0% 280 30.7% 2 0% - - - HMMPfam_Glyco_transf_25 SWT1 54823 genome.wustl.edu 37 1 185130006 185130006 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105518.1 +1 validated p.E11D 0.755 374 0% 289 22.5% 0 - benign(0.181) deleterious(0) neutral(0.461) NULL HMCN1 83872 genome.wustl.edu 37 1 185833660 185833660 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031935.2 +1 reviewed p.S133Y 1.000 215 0% 191 34.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_vWA-like HMCN1 83872 genome.wustl.edu 37 1 185878513 185878513 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031935.2 +1 reviewed p.H222 1.000 129 0% 114 34.2% 0 - - - - superfamily_vWA-like HMCN1 83872 genome.wustl.edu 37 1 185959469 185959469 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031935.2 +1 reviewed p.V1091I 1.000 440 0% 387 26.9% 0 - possibly_damaging(0.889) tolerated(0.47) neutral(0.360) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186026424 186026424 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031935.2 +1 reviewed p.K2401N 1.000 281 0% 200 28.5% 0 - probably_damaging(1) tolerated(0.33) deleterious(0.524) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186050501 186050501 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031935.2 +1 reviewed p.F2921C 0.426 410 0% 326 29.8% 0 - possibly_damaging(0.654) deleterious(0.04) deleterious(0.579) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186143645 186143645 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031935.2 +1 reviewed e103-1 1.000 157 0% 136 33.8% 0 - - - - - PRG4 10216 genome.wustl.edu 37 1 186273349 186273349 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005807.3 +1 reviewed p.K143N 1.000 178 0% 175 30.3% 0 - unknown(0) tolerated(0.09) - NULL PRG4 10216 genome.wustl.edu 37 1 186275670 186275670 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005807.3 +1 reviewed p.E273 0.112 240 0% 197 30.5% 0 - - - - NULL PRG4 10216 genome.wustl.edu 37 1 186277699 186277699 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005807.3 +1 reviewed p.E950K 0.000 106 0% 105 29.5% 0 - unknown(0) deleterious(0) - NULL TPR 7175 genome.wustl.edu 37 1 186304589 186304589 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003292.2 -1 reviewed p.R1598C 1.000 213 0% 150 37.3% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTGS2 5743 genome.wustl.edu 37 1 186648497 186648497 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000963.2 -1 reviewed p.C42 0.998 98 1% 74 37.8% 1 0% - - - HMMPfam_EGF,superfamily_EGF/Laminin PLA2G4A 5321 genome.wustl.edu 37 1 186862208 186862208 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024420.2 +1 reviewed p.R61 0.997 348 0% 304 27% 9 66.6% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PLA2G4A 5321 genome.wustl.edu 37 1 186946857 186946857 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024420.2 +1 reviewed p.D633Y 1.000 276 0% 204 31.9% 29 65.5% possibly_damaging(0.51) deleterious(0.02) deleterious(0.554) HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like FAM5C 339479 genome.wustl.edu 37 1 190067580 190067580 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199051.1 -1 provisional p.E623 1.000 504 0% 345 25.8% 0 - - - - NULL FAM5C 339479 genome.wustl.edu 37 1 190068098 190068098 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199051.1 -1 provisional p.T451A 0.757 69 0% 72 29.2% 0 - benign(0.002) tolerated(0.22) neutral(0.042) NULL FAM5C 339479 genome.wustl.edu 37 1 190129923 190129923 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199051.1 -1 provisional p.R353 1.000 218 0% 207 27.5% 0 - - - - NULL RGS21 431704 genome.wustl.edu 37 1 192321288 192321288 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039152.3 +1 validated p.A67D 0.995 82 0% 60 26.7% 0 - benign(0.001) tolerated(0.27) neutral(0.034) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam RGS1 5996 genome.wustl.edu 37 1 192548420 192548420 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002922.3 +1 reviewed p.L200I 0.997 192 0% 183 34.4% 17 0% possibly_damaging(0.826) tolerated(0.95) neutral(0.314) HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS RGS13 6003 genome.wustl.edu 37 1 192627471 192627471 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002927.3 +1 reviewed p.Y90D 0.995 137 0% 105 31.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam KCNT2 343450 genome.wustl.edu 37 1 196197412 196197412 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198503.2 -1 validated p.R1117Q 0.989 103 0% 93 33.3% 0 - probably_damaging(0.997) tolerated(0.07) deleterious(0.785) NULL KCNT2 343450 genome.wustl.edu 37 1 196205127 196205127 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198503.2 -1 validated p.L1095 1.000 261 0% 202 30.7% 0 - - - - NULL KCNT2 343450 genome.wustl.edu 37 1 196395070 196395070 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198503.2 -1 validated p.R345* 1.000 124 0% 171 29.8% 0 - - - - NULL KCNT2 343450 genome.wustl.edu 37 1 196451500 196451500 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198503.2 -1 validated p.I95 0.968 93 0% 86 27.9% 0 - - - - NULL CFH 3075 genome.wustl.edu 37 1 196709837 196709837 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000186.3 +1 reviewed p.Y957 0.423 200 0% 169 32.5% 7 0% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFH 3075 genome.wustl.edu 37 1 196714950 196714950 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000186.3 +1 reviewed p.S1105Y 0.011 263 0% 229 25.3% 11 0% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) superfamily_Complement control module/SCR domain CFHR4 10877 genome.wustl.edu 37 1 196881872 196881872 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006684.2 +1 validated p.T87S 0.970 150 0% 93 31.2% 0 - possibly_damaging(0.67) tolerated(0.65) neutral(0.240) superfamily_Complement_control_module CFHR4 10877 genome.wustl.edu 37 1 196881927 196881927 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006684.2 +1 validated p.S105Y 0.000 189 0% 132 16.7% 0 - benign(0.017) tolerated(0.21) neutral(0.044) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CFHR4 10877 genome.wustl.edu 37 1 196883708 196883708 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006684.2 +1 validated p.E175* 0.454 88 0% 61 34.4% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197025017 197025017 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001994.2 -1 reviewed p.E394D 0.657 196 0% 143 36.4% 0 - probably_damaging(0.983) tolerated(0.49) neutral(0.440) superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197026458 197026458 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001994.2 -1 reviewed p.R315C 0.589 315 0% 255 29.4% 0 - probably_damaging(0.961) tolerated(0.18) neutral(0.460) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197071296 197071296 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018136.4 -1 reviewed p.V2362A 0.000 169 0% 173 28.9% 0 - benign(0.065) tolerated(0.06) neutral(0.327) superfamily_P-loop containing nucleoside triphosphate hydrolases ZBTB41 360023 genome.wustl.edu 37 1 197168690 197168690 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194314.2 -1 validated p.E305A 0.996 309 0% 282 26.6% 0 - benign(0.076) deleterious(0) neutral(0.450) NULL ZBTB41 360023 genome.wustl.edu 37 1 197169117 197169117 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194314.2 -1 validated p.K163Q 1.000 103 0% 88 29.5% 0 - possibly_damaging(0.913) deleterious(0) deleterious(0.809) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB DENND1B 163486 genome.wustl.edu 37 1 197611950 197611950 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142795.1 -1 validated p.R168I 1.000 41 0% 37 24.3% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DENN,HMMSmart_SM00799 DENND1B 163486 genome.wustl.edu 37 1 197627435 197627435 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142795.1 -1 validated p.E121K 1.000 205 0% 147 32% 0 - benign(0.002) tolerated(0.87) neutral(0.001) HMMPfam_DENN,HMMSmart_SM00799 NEK7 140609 genome.wustl.edu 37 1 198222180 198222180 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133494.2 +1 validated p.R23Q 1.000 228 0% 186 34.4% 5 0% benign(0.034) tolerated(0.29) neutral(0.031) superfamily_Kinase_like PTPRC 5788 genome.wustl.edu 37 1 198703468 198703468 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002838.3 +1 reviewed p.E729* 1.000 473 0% 510 32.2% 4 0% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II ZNF281 23528 genome.wustl.edu 37 1 200376936 200376936 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012482.3 -1 provisional p.V633A 1.000 96 0% 127 34.6% 7 0% possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL ZNF281 23528 genome.wustl.edu 37 1 200377137 200377137 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012482.3 -1 provisional p.V566A 1.000 47 0% 65 33.8% 0 - possibly_damaging(0.945) tolerated(0.07) deleterious(0.709) NULL ZNF281 23528 genome.wustl.edu 37 1 200377415 200377415 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012482.3 -1 provisional p.K473N 0.379 75 0% 72 30.6% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KIF14 9928 genome.wustl.edu 37 1 200561305 200561305 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014875.2 -1 validated p.K906Q 1.000 155 0% 164 31.1% 2 100% probably_damaging(0.991) tolerated(0.06) deleterious(0.766) NULL CAMSAP2 23271 genome.wustl.edu 37 1 200817362 200817362 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203459.1 +1 validated p.E489* 1.000 258 0% 252 27.8% 1 0% - - - NULL CAMSAP2 23271 genome.wustl.edu 37 1 200818838 200818838 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203459.1 +1 validated p.N981H 1.000 372 0.3% 403 32.3% 7 28.5% possibly_damaging(0.749) tolerated(0.08) deleterious(0.575) NULL CACNA1S 779 genome.wustl.edu 37 1 201044737 201044737 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000069.2 -1 reviewed p.T612A 1.000 297 0% 244 34.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ion_trans,superfamily_SSF81324 IGFN1 91156 genome.wustl.edu 37 1 201183353 201183353 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000451870 +1 known p.P469L 0.007 76 0% 33 24.2% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin TNNT2 7139 genome.wustl.edu 37 1 201332492 201332492 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000364.2 -1 reviewed p.A178T 1.000 249 0% 155 33.5% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Troponin TNNT2 7139 genome.wustl.edu 37 1 201337309 201337309 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000364.2 -1 reviewed p.T48 0.001 59 0% 41 26.8% 0 - - - - NULL NAV1 89796 genome.wustl.edu 37 1 201751445 201751445 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020443.4 +1 reviewed p.S602L 0.392 333 0% 309 31.7% 9 22.2% possibly_damaging(0.849) tolerated(0.07) deleterious(0.645) NULL IPO9 55705 genome.wustl.edu 37 1 201832707 201832707 + Nonsense_Mutation SNP C C T rs12135069 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018085.4 +1 validated p.R534* 1.000 124 0% 134 31.3% 16 6.2% - - - superfamily_ARM repeat LGR6 59352 genome.wustl.edu 37 1 202266662 202266662 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017403.1 +1 reviewed p.E248A 1.000 167 0% 127 33.9% 3 33.3% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like LGR6 59352 genome.wustl.edu 37 1 202270330 202270330 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017403.1 +1 reviewed p.S299L 0.994 178 0% 148 31.8% 4 25% probably_damaging(0.994) tolerated(0.32) deleterious(0.476) superfamily_RNI-like PPP1R12B 4660 genome.wustl.edu 37 1 202396302 202396302 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032105.2 +1 reviewed p.R279Q 0.999 178 0% 158 32.9% 0 - possibly_damaging(0.501) tolerated(0.56) neutral(0.174) HMMPfam_Ank,superfamily_Ankyrin repeat PPP1R12B 4660 genome.wustl.edu 37 1 202407121 202407121 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032105.2 +1 reviewed p.R476Q 1.000 231 0% 203 39.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPP1R12B 4660 genome.wustl.edu 37 1 202407145 202407145 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032105.2 +1 reviewed p.K484R 1.000 218 0% 186 29.6% 1 100% benign(0.01) deleterious(0) neutral(0.445) NULL KDM5B 10765 genome.wustl.edu 37 1 202727577 202727577 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006618.3 -1 validated p.R380H 0.994 146 0% 117 22.2% 7 57.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL KLHL12 59349 genome.wustl.edu 37 1 202878177 202878177 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021633.2 -1 provisional p.R265W 1.000 170 0% 156 28.8% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Gal_oxid_central TMEM183A 92703 genome.wustl.edu 37 1 202985259 202985259 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138391.4 +1 validated p.K233N 1.000 202 0% 271 27.3% 56 37.5% possibly_damaging(0.7) deleterious(0.03) deleterious(0.616) NULL LOC100288349 100288349 genome.wustl.edu 37 1 203311585 203311585 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342128.1 +1 model p.D102N 1.000 25 0% 20 45% 19 21% - - - NULL PRELP 5549 genome.wustl.edu 37 1 203453282 203453282 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002725.3 +1 reviewed p.E324K 0.900 81 1.2% 92 21.7% 2 0% benign(0.009) tolerated(0.62) neutral(0.005) HMMPfam_LRR_1,superfamily_L domain-like ATP2B4 493 genome.wustl.edu 37 1 203676262 203676262 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001684.3 +1 reviewed p.F409V 1.000 98 0% 88 33% 33 42.4% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M SNRPE 6635 genome.wustl.edu 37 1 203831348 203831348 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003094.2 +1 provisional p.N27H 1.000 46 0% 50 32% 173 46.2% possibly_damaging(0.598) tolerated(0.17) neutral(0.266) HMMPfam_LSM,HMMSmart_SM00651,superfamily_Sm-like ribonucleoproteins PLEKHA6 22874 genome.wustl.edu 37 1 204219742 204219742 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014935.2 -1 validated p.V509I 1.000 46 0% 31 12.9% 1 0% possibly_damaging(0.639) tolerated(0.13) deleterious(0.476) NULL LRRN2 10446 genome.wustl.edu 37 1 204587951 204587951 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006338.2 -1 reviewed p.I390 0.990 68 0% 42 28.6% 18 72.2% - - - HMMSmart_SM00082,superfamily_L domain-like NFASC 23114 genome.wustl.edu 37 1 204913384 204913384 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000367169 +1 known p.R47W 0.262 36 0% 21 23.8% 1 100% - - - NULL NFASC 23114 genome.wustl.edu 37 1 204970324 204970324 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000367172 +1 known p.V1123I 0.997 19 0% 26 30.8% 0 - benign(0.001) tolerated(0.52) neutral(0.009) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CNTN2 6900 genome.wustl.edu 37 1 205031672 205031672 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005076.2 +1 reviewed p.Y405 0.929 53 0% 34 35.3% 0 - - - - HMMPfam_I-set,superfamily_SSF48726 CDK18 5129 genome.wustl.edu 37 1 205498487 205498487 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_212503.2 +1 validated p.A400T 0.004 66 0% 57 28.1% 4 0% benign(0) tolerated(0.11) neutral(0.272) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PM20D1 148811 genome.wustl.edu 37 1 205799418 205799418 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152491.4 -1 validated p.D459N 0.015 141 0% 126 34.9% 0 - possibly_damaging(0.501) deleterious(0.01) deleterious(0.573) HMMPfam_Peptidase_M20,superfamily_Zn-dependent exopeptidases PM20D1 148811 genome.wustl.edu 37 1 205799492 205799492 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152491.4 -1 validated p.N434S 0.999 129 0% 111 16.2% 0 - benign(0.346) tolerated(0.16) neutral(0.169) HMMPfam_Peptidase_M20,superfamily_Zn-dependent exopeptidases SLC26A9 115019 genome.wustl.edu 37 1 205904837 205904837 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_134325.2 -1 reviewed p.R38C 0.592 138 0% 189 31.2% 0 - benign(0) deleterious(0.04) neutral(0.349) NULL C1orf186 440712 genome.wustl.edu 37 1 206239473 206239473 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000331555 -1 known p.V142A 1.000 111 0% 92 31.5% 6 50% possibly_damaging(0.791) deleterious(0) deleterious(0.741) NULL CTSE 1510 genome.wustl.edu 37 1 206327534 206327534 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001910.2 +1 reviewed p.F241L 1.000 314 0% 282 27% 1 100% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Asp,superfamily_Pept_Aspartic IKBKE 9641 genome.wustl.edu 37 1 206667274 206667274 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014002.2 +1 validated p.G689 0.998 40 0% 30 16.7% 17 35.2% - - - NULL DYRK3 8444 genome.wustl.edu 37 1 206821626 206821626 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003582.2 +1 reviewed p.F361 0.482 320 0% 348 35.3% 6 33.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAPKAPK2 9261 genome.wustl.edu 37 1 206902059 206902059 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032960.2 +1 reviewed p.L95R 0.998 38 0% 30 33.3% 33 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase IL10 3586 genome.wustl.edu 37 1 206943236 206943236 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000572.2 -1 reviewed p.R128* 1.000 55 0% 53 41.5% 0 - - - - superfamily_4-helical cytokines,HMMPfam_IL10,HMMSmart_SM00188 IL20 50604 genome.wustl.edu 37 1 207041897 207041897 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018724.3 +1 reviewed p.E173D 0.946 46 0% 44 29.5% 1 0% possibly_damaging(0.646) tolerated(0.44) neutral(0.239) superfamily_4_helix_cytokine,HMMPfam_IL10,HMMSmart_IL10 IL24 11009 genome.wustl.edu 37 1 207076347 207076347 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006850.2 +1 reviewed p.K188N 1.000 196 0% 276 30.1% 4 0% benign(0.113) deleterious(0) neutral(0.454) superfamily_4_helix_cytokine YOD1 55432 genome.wustl.edu 37 1 207225563 207225563 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000367084 -1 known p.I6M 0.000 74 0% 110 16.4% 0 - benign(0.076) tolerated(0.12) neutral(0.266) superfamily_SSF54236 C4BPB 725 genome.wustl.edu 37 1 207262894 207262894 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000716.3 +1 reviewed p.A6 0.000 84 0% 87 26.4% 0 - - - - NULL C4BPB 725 genome.wustl.edu 37 1 207263668 207263668 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000716.3 +1 reviewed p.E25G 0.001 140 0% 122 27% 0 - probably_damaging(0.98) tolerated(0.2) deleterious(0.473) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain C4BPB 725 genome.wustl.edu 37 1 207265062 207265062 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000716.3 +1 reviewed p.K102N 0.001 151 0% 138 32.6% 0 - possibly_damaging(0.81) tolerated(0.15) deleterious(0.546) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CD55 1604 genome.wustl.edu 37 1 207498083 207498083 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114752.1 +1 reviewed p.E156K 0.027 173 0% 177 11.3% 56 10.7% possibly_damaging(0.869) deleterious(0.03) deleterious(0.702) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR2 1380 genome.wustl.edu 37 1 207643046 207643046 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001006658.2 +1 reviewed p.F275C 0.999 143 0% 173 31.2% 0 - possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) superfamily_Complement_control_module CR1 1378 genome.wustl.edu 37 1 207749006 207749006 + Silent SNP G G A rs56249955 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000651.4 +1 reviewed p.T1506 0.000 247 0% 215 29.3% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1 1378 genome.wustl.edu 37 1 207758001 207758001 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000651.4 +1 reviewed p.F1770L 0.998 343 0% 283 27.6% 0 - probably_damaging(0.967) tolerated(1) neutral(0.409) superfamily_Complement control module/SCR domain CR1 1378 genome.wustl.edu 37 1 207758215 207758215 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000651.4 +1 reviewed p.R1842C 0.000 341 0% 296 29.1% 0 - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL CD34 947 genome.wustl.edu 37 1 208070891 208070891 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001025109.1 -1 validated p.E182K 0.995 11 0% 12 33.3% 17 0% possibly_damaging(0.862) tolerated(0.05) deleterious(0.678) NULL TRAF3IP3 80342 genome.wustl.edu 37 1 209955413 209955413 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025228.2 +1 reviewed p.R506* 0.007 167 0% 125 30.4% 5 40% - - - NULL SERTAD4 56256 genome.wustl.edu 37 1 210415597 210415597 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019605.3 +1 validated p.N329S 0.999 106 0% 122 24.6% 1 0% benign(0) tolerated(1) - NULL KCNH1 3756 genome.wustl.edu 37 1 211263968 211263968 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172362.2 -1 reviewed p.L125 1.000 230 0% 160 36.9% 0 - - - - HMMSmart_SM00086,superfamily_PYP-like sensor domain (PAS domain) TRAF5 7188 genome.wustl.edu 37 1 211533365 211533365 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033910.2 +1 reviewed p.R164* 1.000 126 0% 101 28.7% 2 0% - - - HMMPfam_zf-TRAF,superfamily_TRAF domain-like INTS7 25896 genome.wustl.edu 37 1 212115237 212115237 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015434.2 -1 provisional p.R940C 1.000 99 0% 81 34.6% 30 46.6% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL DTL 51514 genome.wustl.edu 37 1 212241979 212241979 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016448.2 +1 validated p.L286V 0.987 166 0% 139 34.5% 3 0% possibly_damaging(0.937) deleterious(0.01) deleterious(0.788) superfamily_WD40 repeat-like PPP2R5A 5525 genome.wustl.edu 37 1 212532091 212532091 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006243.2 +1 reviewed p.F430 0.916 134 0% 89 62.9% 36 88.8% - - - HMMPfam_B56,superfamily_ARM repeat RPS6KC1 26750 genome.wustl.edu 37 1 213277819 213277819 + Missense_Mutation SNP G G A rs56032860 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012424.3 +1 validated p.E96K 1.000 209 0% 143 24.5% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain RPS6KC1 26750 genome.wustl.edu 37 1 213341224 213341224 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012424.3 +1 validated p.E287* 1.000 214 0% 193 26.4% 1 0% - - - HMMPfam_MIT,HMMSmart_SM00745 PROX1 5629 genome.wustl.edu 37 1 214170344 214170344 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002763.3 +1 provisional p.R156C 1.000 244 0% 217 33.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Prox1 SMYD2 56950 genome.wustl.edu 37 1 214491451 214491451 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020197.2 +1 validated p.E126D 0.999 184 0% 195 21.5% 22 45.4% probably_damaging(0.976) tolerated(0.85) neutral(0.418) HMMSmart_SET,superfamily_SSF82199 PTPN14 5784 genome.wustl.edu 37 1 214537857 214537857 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005401.4 -1 reviewed p.E1145K 1.000 113 0% 115 30.4% 3 66.6% probably_damaging(0.986) deleterious(0.05) deleterious(0.780) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPN14 5784 genome.wustl.edu 37 1 214625241 214625241 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005401.4 -1 reviewed p.K84T 1.000 130 0% 107 28% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_N,PatternScan_FERM_1,HMMSmart_B41,superfamily_SSF54236 CENPF 1063 genome.wustl.edu 37 1 214791936 214791936 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016343.3 +1 reviewed p.R127I 1.000 166 0% 137 28.5% 2 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Cenp-F_N CENPF 1063 genome.wustl.edu 37 1 214792495 214792495 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016343.3 +1 reviewed p.E169* 1.000 86 0% 56 21.4% 1 0% - - - HMMPfam_Cenp-F_N CENPF 1063 genome.wustl.edu 37 1 214794125 214794125 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016343.3 +1 reviewed p.R234I 0.389 321 0.3% 362 29.8% 1 100% possibly_damaging(0.462) deleterious(0.03) deleterious(0.516) HMMPfam_Cenp-F_N CENPF 1063 genome.wustl.edu 37 1 214813956 214813956 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016343.3 +1 reviewed p.E759K 0.232 84 0% 68 38.2% 3 0% probably_damaging(0.971) deleterious(0.03) deleterious(0.777) superfamily_Spectrin repeat CENPF 1063 genome.wustl.edu 37 1 214814423 214814423 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016343.3 +1 reviewed p.Q914 0.001 140 0% 141 22.7% 4 0% - - - NULL CENPF 1063 genome.wustl.edu 37 1 214814550 214814550 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016343.3 +1 reviewed p.E957K 1.000 126 0% 139 33.8% 0 - probably_damaging(0.971) tolerated(0.07) deleterious(0.732) NULL CENPF 1063 genome.wustl.edu 37 1 214814622 214814622 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016343.3 +1 reviewed p.E981K 0.997 150 0% 174 27% 3 100% benign(0.244) tolerated(0.12) neutral(0.285) NULL CENPF 1063 genome.wustl.edu 37 1 214816194 214816194 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016343.3 +1 reviewed p.D1505Y 0.003 100 0% 123 23.6% 6 83.3% possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL CENPF 1063 genome.wustl.edu 37 1 214816385 214816385 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016343.3 +1 reviewed p.E1568D 0.022 111 0% 117 19.7% 6 100% benign(0.001) tolerated(0.48) neutral(0.011) NULL CENPF 1063 genome.wustl.edu 37 1 214819670 214819670 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016343.3 +1 reviewed p.E2253* 0.941 282 0% 270 27.4% 14 0% - - - superfamily_Prefoldin,HMMPfam_Cenp-F_leu_zip KCNK2 3776 genome.wustl.edu 37 1 215345363 215345363 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017425.2 +1 reviewed p.K220N 1.000 395 0% 377 35.3% 0 - probably_damaging(0.979) tolerated(0.09) deleterious(0.718) superfamily_Voltage-gated potassium channels USH2A 7399 genome.wustl.edu 37 1 215844381 215844381 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206933.2 -1 reviewed p.I4689T 0.953 461 0% 387 26.4% 0 - benign(0) tolerated(0.18) neutral(0.056) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215847561 215847561 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206933.2 -1 reviewed p.N4564K 0.996 441 0% 485 28.5% 0 - probably_damaging(0.99) tolerated(0.38) neutral(0.459) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215914807 215914807 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206933.2 -1 reviewed p.V3874A 0.000 174 0% 174 37.9% 0 - benign(0) tolerated(0.85) neutral(0.001) HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215940060 215940060 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206933.2 -1 reviewed p.E3670D 1.000 221 0% 158 29.7% 0 - benign(0.046) tolerated(0.55) neutral(0.009) HMMPfam_fn3 USH2A 7399 genome.wustl.edu 37 1 216052350 216052350 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206933.2 -1 reviewed p.T2772A 0.002 265 0% 227 27.8% 0 - benign(0.059) tolerated(0.45) neutral(0.016) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216246482 216246482 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206933.2 -1 reviewed p.G1911 0.003 156 0% 125 26.4% 0 - - - - HMMSmart_SM00060,superfamily_Fibronectin type III ESRRG 2104 genome.wustl.edu 37 1 216692698 216692698 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001438.2 -1 validated p.I310V 1.000 147 0% 110 24.5% 0 - benign(0.001) tolerated(0.66) neutral(0.003) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain GPATCH2 55105 genome.wustl.edu 37 1 217793630 217793630 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018040.2 -1 provisional p.E90K 1.000 157 0% 162 32.1% 3 0% possibly_damaging(0.653) deleterious(0.01) deleterious(0.635) NULL EPRS 2058 genome.wustl.edu 37 1 220192394 220192394 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004446.2 -1 reviewed p.R459 0.998 382 0% 295 32.2% 29 48.2% - - - HMMPfam_tRNA-synt_1c,superfamily_SSF52374 RAB3GAP2 25782 genome.wustl.edu 37 1 220379342 220379342 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012414.3 -1 reviewed p.E207K 1.000 93 0% 72 29.2% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RAB3GAP2 25782 genome.wustl.edu 37 1 220387198 220387198 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012414.3 -1 reviewed p.P102S 1.000 61 0% 60 10% 0 - benign(0) tolerated(0.98) - NULL HLX 3142 genome.wustl.edu 37 1 221057717 221057717 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021958.3 +1 validated p.D380N 1.000 31 0% 24 33.3% 12 0% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) NULL TAF1A 9015 genome.wustl.edu 37 1 222761887 222761887 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005681.2 -1 reviewed p.E7* 0.995 383 0.3% 312 29.5% 5 40% - - - NULL MIA3 375056 genome.wustl.edu 37 1 222803505 222803505 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000354906 +1 known p.F564V 0.000 167 0% 232 29.3% 5 0% - - - NULL MIA3 375056 genome.wustl.edu 37 1 222805558 222805558 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198551.2 +1 validated p.L1074R 0.000 163 0% 198 29.3% 4 50% possibly_damaging(0.856) deleterious(0.01) deleterious(0.736) NULL MIA3 375056 genome.wustl.edu 37 1 222833606 222833606 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198551.2 +1 validated p.R1688K 0.947 182 0% 151 27.2% 19 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AIDA 64853 genome.wustl.edu 37 1 222843305 222843305 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022831.2 -1 validated p.R284I 1.000 235 0% 176 18.2% 14 14.2% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_DUF1855 BROX 148362 genome.wustl.edu 37 1 222892617 222892617 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144695.2 +1 validated p.S74Y 1.000 188 0% 199 13.6% 5 20% possibly_damaging(0.807) deleterious(0.03) deleterious(0.668) HMMPfam_BRO1 BROX 148362 genome.wustl.edu 37 1 222902986 222902986 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144695.2 +1 validated p.L261V 0.148 107 0% 103 34% 14 35.7% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_BRO1 TLR5 7100 genome.wustl.edu 37 1 223284179 223284179 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003268.5 -1 reviewed p.R732I 1.000 109 0% 136 29.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR TLR5 7100 genome.wustl.edu 37 1 223285902 223285902 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003268.5 -1 reviewed p.R158C 0.000 189 0% 211 29.9% 0 - possibly_damaging(0.868) deleterious(0.02) deleterious(0.720) HMMPfam_LRR_1,superfamily_SSF52058 SUSD4 55061 genome.wustl.edu 37 1 223402693 223402693 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017982.3 -1 validated p.F254 1.000 60 0% 54 24.1% 1 0% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SUSD4 55061 genome.wustl.edu 37 1 223408404 223408404 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037175.2 -1 validated p.P255T 0.000 140 0% 114 32.5% 0 - unknown(0) tolerated(0.05) - NULL SUSD4 55061 genome.wustl.edu 37 1 223438013 223438013 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017982.3 -1 validated p.L228R 0.995 119 0% 93 22.6% 2 0% probably_damaging(0.998) tolerated(0.34) deleterious(0.497) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain C1orf65 164127 genome.wustl.edu 37 1 223568322 223568322 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152610.2 +1 validated p.R502H 0.001 69 0% 63 36.5% 0 - benign(0) tolerated(0.25) neutral(0.037) NULL TP53BP2 7159 genome.wustl.edu 37 1 223971816 223971816 + Splice_Site SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031685.2 -1 reviewed e17+1 1.000 175 0% 155 34.2% 1 100% - - - - DEGS1 8560 genome.wustl.edu 37 1 224377745 224377745 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003676.2 +1 reviewed p.T183 0.007 328 0% 359 31.8% 38 26.3% - - - HMMPfam_FA_desaturase WDR26 80232 genome.wustl.edu 37 1 224612384 224612384 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000366852 -1 known p.P206L 1.000 133 0% 104 26.9% 0 - benign(0.003) deleterious(0) neutral(0.445) NULL PYCR2 29920 genome.wustl.edu 37 1 226110080 226110080 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013328.2 -1 provisional p.M48V 1.000 72 0% 50 28% 82 40.2% benign(0.018) tolerated(0.05) neutral(0.346) HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains PARP1 142 genome.wustl.edu 37 1 226551739 226551739 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001618.3 -1 reviewed p.F897 0.993 129 0% 82 26.8% 129 50.3% - - - HMMPfam_PARP,superfamily_ADP-ribosylation CDC42BPA 8476 genome.wustl.edu 37 1 227211015 227211015 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003607.3 -1 reviewed p.L1487I 1.000 62 0% 47 21.3% 2 0% benign(0.136) tolerated(0.09) neutral(0.308) HMMSmart_CNH CDC42BPA 8476 genome.wustl.edu 37 1 227333226 227333226 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003607.3 -1 reviewed p.S369 0.480 359 0% 284 35.6% 0 - - - - HMMSmart_S_TK_X,superfamily_Kinase_like,HMMPfam_Pkinase_C CDC42BPA 8476 genome.wustl.edu 37 1 227333349 227333349 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003607.3 -1 reviewed p.R328 0.977 336 0% 259 30.1% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ZNF678 339500 genome.wustl.edu 37 1 227843009 227843009 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178549.3 +1 validated p.E353G 0.594 200 0% 156 25.6% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF678 339500 genome.wustl.edu 37 1 227843393 227843393 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178549.3 +1 validated p.R481I 0.311 207 0.5% 166 34.9% 0 - benign(0.005) tolerated(0.18) neutral(0.056) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PRSS38 339501 genome.wustl.edu 37 1 228004950 228004950 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_183062.2 +1 validated p.V118I 0.001 69 0% 45 31.1% 0 - possibly_damaging(0.775) tolerated(0.53) neutral(0.296) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ACTA1 58 genome.wustl.edu 37 1 229567496 229567496 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100.3 -1 reviewed p.A321V 1.000 51 0% 50 30% 1 0% possibly_damaging(0.495) deleterious(0) deleterious(0.610) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ABCB10 23456 genome.wustl.edu 37 1 229676405 229676405 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012089.2 -1 reviewed p.V384A 1.000 215 0% 166 30.7% 5 60% benign(0.038) tolerated(0.36) neutral(0.022) HMMPfam_ABC_membrane,superfamily_ABC_TM_1 URB2 9816 genome.wustl.edu 37 1 229770710 229770710 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014777.2 +1 provisional p.R117I 0.015 50 0% 33 18.2% 4 25% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL AGT 183 genome.wustl.edu 37 1 230841816 230841816 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000029.3 -1 reviewed p.F329 0.639 173 0% 142 33.8% 9 0% - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins CAPN9 10753 genome.wustl.edu 37 1 230895373 230895373 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006615.2 +1 reviewed p.F133L 1.000 149 0% 128 28.9% 1 0% probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases CAPN9 10753 genome.wustl.edu 37 1 230930952 230930952 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006615.2 +1 reviewed p.R638 0.996 63 0% 45 31.1% 3 100% - - - superfamily_EF-hand TRIM67 440730 genome.wustl.edu 37 1 231342486 231342486 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004342.3 +1 validated p.S590Y 0.672 95 0% 55 32.7% 0 - possibly_damaging(0.757) deleterious(0.02) deleterious(0.663) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TRIM67 440730 genome.wustl.edu 37 1 231344989 231344989 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004342.3 +1 validated p.T706A 1.000 74 0% 61 34.4% 0 - possibly_damaging(0.676) tolerated(0.32) neutral(0.265) HMMPfam_SPRY,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00449 C1orf131 128061 genome.wustl.edu 37 1 231374789 231374789 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152379.2 -1 validated p.S88 0.017 101 0% 77 27.3% 13 38.4% - - - NULL GNPAT 8443 genome.wustl.edu 37 1 231396393 231396393 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014236.3 +1 reviewed p.F134L 0.999 410 0% 476 29.6% 30 26.6% benign(0.104) tolerated(0.17) neutral(0.067) NULL GNPAT 8443 genome.wustl.edu 37 1 231402128 231402128 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014236.3 +1 reviewed p.R344W 0.997 74 0% 112 37.5% 46 52.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF69593 EXOC8 149371 genome.wustl.edu 37 1 231471787 231471787 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175876.3 -1 validated p.R569C 1.000 118 0% 108 26.9% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DISC1 27185 genome.wustl.edu 37 1 231829850 231829850 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018662.2 +1 reviewed p.A116T 0.000 60 0% 55 38.2% 1 0% possibly_damaging(0.527) tolerated(0.14) neutral(0.427) NULL DISC1 27185 genome.wustl.edu 37 1 231902927 231902927 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018662.2 +1 reviewed p.P437L 0.000 80 0% 97 33% 1 0% benign(0.011) tolerated(0.24) neutral(0.038) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232538167 232538167 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020808.3 -1 validated p.L1665I 1.000 59 0% 47 44.7% 20 85% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232575141 232575141 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020808.3 -1 validated p.M1248I 1.000 59 0% 172 80.2% 11 81.8% possibly_damaging(0.448) tolerated(0.09) neutral(0.443) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232626677 232626677 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020808.3 -1 validated p.R583 0.536 187 0% 183 34.4% 5 100% - - - superfamily_Rap/Ran-GAP (Pfam 02145) SIPA1L2 57568 genome.wustl.edu 37 1 232626724 232626724 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020808.3 -1 validated p.E568* 1.000 113 0% 116 40.5% 7 0% - - - superfamily_Rap/Ran-GAP (Pfam 02145) SIPA1L2 57568 genome.wustl.edu 37 1 232650179 232650179 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020808.3 -1 validated p.E303K 0.996 243 0% 262 13.7% 3 0% probably_damaging(0.971) deleterious(0.03) deleterious(0.777) NULL PCNXL2 80003 genome.wustl.edu 37 1 233136093 233136093 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000429988 -1 known p.H563N 1.000 125 0% 116 26.7% 1 0% - - - HMMPfam_Pecanex_C KIAA1804 84451 genome.wustl.edu 37 1 233498021 233498021 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032435.2 +1 validated p.R512* 0.999 125 0% 126 26.2% 1 0% - - - NULL SLC35F3 148641 genome.wustl.edu 37 1 234444895 234444895 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173508.2 +1 provisional p.F219L 1.000 105 0% 93 46.2% 0 - benign(0.145) tolerated(0.13) neutral(0.265) NULL B3GALNT2 148789 genome.wustl.edu 37 1 235618932 235618932 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152490.2 -1 validated p.E364K 1.000 94 0% 92 28.3% 5 20% possibly_damaging(0.832) tolerated(0.11) deleterious(0.589) HMMPfam_Galactosyl_T LYST 1130 genome.wustl.edu 37 1 235907331 235907331 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000081.2 -1 reviewed p.P2700Q 1.000 99 0% 76 32.9% 2 50% probably_damaging(0.997) - - NULL LYST 1130 genome.wustl.edu 37 1 235944236 235944236 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000081.2 -1 reviewed p.E1715* 1.000 74 0% 58 29.3% 1 0% - - - NULL NID1 4811 genome.wustl.edu 37 1 236189263 236189263 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002508.2 -1 reviewed p.F639 0.958 146 0% 138 36.2% 18 0% - - - HMMSmart_SM00682,superfamily_GFP-like NID1 4811 genome.wustl.edu 37 1 236212061 236212061 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002508.2 -1 reviewed p.A152T 0.977 53 0% 48 39.6% 11 0% benign(0.014) tolerated(0.43) neutral(0.014) HMMSmart_SM00539 GPR137B 7107 genome.wustl.edu 37 1 236341832 236341832 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003272.3 +1 validated p.V195L 1.000 333 0.6% 277 34.7% 11 9% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL ERO1LB 56605 genome.wustl.edu 37 1 236389777 236389777 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019891.3 -1 validated p.E282* 1.000 214 0% 177 28.8% 1 100% - - - HMMPfam_ERO1,superfamily_ERO1 ERO1LB 56605 genome.wustl.edu 37 1 236413255 236413255 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019891.3 -1 validated p.A121T 1.000 123 0% 117 29.1% 0 - possibly_damaging(0.822) tolerated(0.16) neutral(0.370) HMMPfam_ERO1,superfamily_ERO1 ERO1LB 56605 genome.wustl.edu 37 1 236433237 236433237 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019891.3 -1 validated p.T54A 1.000 173 0% 187 36.4% 2 50% possibly_damaging(0.677) deleterious(0.02) deleterious(0.624) superfamily_ERO1 LGALS8 3964 genome.wustl.edu 37 1 236706247 236706247 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006499.3 +1 reviewed p.I194 0.119 198 0% 161 30.4% 2 50% - - - NULL HEATR1 55127 genome.wustl.edu 37 1 236734928 236734928 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018072.4 -1 validated p.L1256I 1.000 203 0% 172 34.9% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold ACTN2 88 genome.wustl.edu 37 1 236900459 236900459 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001103.2 +1 reviewed p.A274V 1.000 61 0% 58 25.9% 0 - benign(0) tolerated(0.24) neutral(0.037) superfamily_Spectrin repeat MTR 4548 genome.wustl.edu 37 1 237057732 237057732 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000254.2 +1 reviewed p.R1094C 0.005 166 0% 119 25.2% 4 50% benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_Met_synt_B12,superfamily_Methionine synthase activation domain-like RYR2 6262 genome.wustl.edu 37 1 237538020 237538020 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001035.2 +1 reviewed p.L130M 1.000 32 0% 29 37.9% 0 - probably_damaging(0.991) - - HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 RYR2 6262 genome.wustl.edu 37 1 237659983 237659983 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001035.2 +1 reviewed p.E712K 1.000 149 0% 122 27.9% 1 100% benign(0.15) - - HMMPfam_SPRY,HMMSmart_SM00449 RYR2 6262 genome.wustl.edu 37 1 237664180 237664180 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001035.2 +1 reviewed p.V791 0.998 353 0% 403 31.8% 3 100% - - - HMMPfam_SPRY,HMMSmart_SM00449 RYR2 6262 genome.wustl.edu 37 1 237711798 237711798 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001035.2 +1 reviewed p.Q992* 1.000 76 0% 52 38.5% 0 - - - - HMMPfam_RyR RYR2 6262 genome.wustl.edu 37 1 237791142 237791142 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001035.2 +1 reviewed p.R2068* 0.937 49 0% 42 50% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237843758 237843758 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001035.2 +1 reviewed p.V2966 0.008 86 0% 78 24.4% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237870347 237870347 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001035.2 +1 reviewed p.R3227C 0.998 177 0% 164 32.3% 0 - probably_damaging(1) - - NULL RYR2 6262 genome.wustl.edu 37 1 237875071 237875071 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001035.2 +1 reviewed p.F3419 0.981 45 0% 40 42.5% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237947138 237947138 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001035.2 +1 reviewed p.V4042 1.000 57 0% 58 32.8% 0 - - - - superfamily_EF-hand ZP4 57829 genome.wustl.edu 37 1 238049185 238049185 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021186.2 -1 reviewed p.L281F 0.962 126 0% 93 29% 0 - possibly_damaging(0.584) deleterious(0.02) deleterious(0.584) HMMPfam_Zona_pellucida,HMMSmart_SM00241 FMN2 56776 genome.wustl.edu 37 1 240370340 240370340 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020066.4 +1 validated p.S743L 0.998 110 0% 110 30% 0 - unknown(0) deleterious(0) - NULL FMN2 56776 genome.wustl.edu 37 1 240492391 240492391 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020066.4 +1 validated p.E1411K 1.000 173 0% 163 11.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd FMN2 56776 genome.wustl.edu 37 1 240493936 240493936 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020066.4 +1 validated p.L1491I 0.991 142 0% 124 12.9% 0 - possibly_damaging(0.919) tolerated(0.14) deleterious(0.619) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd FMN2 56776 genome.wustl.edu 37 1 240497471 240497471 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020066.4 +1 validated p.S1569 0.007 488 0% 376 30.9% 0 - - - - HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd GREM2 64388 genome.wustl.edu 37 1 240656276 240656276 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022469.3 -1 reviewed p.K167R 1.000 25 0% 19 31.6% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL FH 2271 genome.wustl.edu 37 1 241667423 241667423 + Nonsense_Mutation SNP G G A rs121913122 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000143.2 -1 reviewed p.R343* 1.000 161 0% 140 27.9% 68 0% - - - HMMPfam_Lyase_1,superfamily_L-aspartase-like KMO 8564 genome.wustl.edu 37 1 241752099 241752099 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000366555 +1 known p.D41N 0.695 106 0% 100 27% 2 0% - - - NULL WDR64 128025 genome.wustl.edu 37 1 241850886 241850886 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144625.4 +1 validated p.L31 0.964 140 0% 167 29.9% 0 - - - - superfamily_WD40 repeat-like WDR64 128025 genome.wustl.edu 37 1 241912991 241912991 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000425826 +1 known p.P48H 0.929 265 0% 258 29.1% 0 - - - - superfamily_WD40 repeat-like PLD5 200150 genome.wustl.edu 37 1 242271077 242271077 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152666.1 -1 provisional p.R287* 1.000 444 0% 382 26.7% 0 - - - - HMMPfam_PLD_envelope,superfamily_SSF56024 PLD5 200150 genome.wustl.edu 37 1 242428741 242428741 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152666.1 -1 provisional p.L77I 1.000 142 0% 114 36.8% 0 - probably_damaging(0.998) tolerated(0.65) deleterious(0.477) superfamily_SSF56024 CEP170 9859 genome.wustl.edu 37 1 243362487 243362487 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014812.2 -1 reviewed p.A169V 0.997 66 0% 49 28.6% 1 0% possibly_damaging(0.848) tolerated(0.37) neutral(0.345) NULL ZNF238 10472 genome.wustl.edu 37 1 244217802 244217802 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_205768.2 +1 validated p.S242 0.964 129 0% 153 25.5% 4 0% - - - NULL ZNF238 10472 genome.wustl.edu 37 1 244218009 244218009 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_205768.2 +1 validated p.S311 1.000 80 0% 87 35.6% 6 33.3% - - - NULL ADSS 159 genome.wustl.edu 37 1 244583524 244583524 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001126.2 -1 reviewed p.P246 0.997 109 0% 78 25.6% 10 30% - - - HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,superfamily_P-loop containing nucleoside triphosphate hydrolases C1orf101 257044 genome.wustl.edu 37 1 244735751 244735751 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130957.1 +1 validated p.F543L 0.000 154 0% 107 31.8% 0 - benign(0) tolerated(1) - NULL C1orf101 257044 genome.wustl.edu 37 1 244735828 244735828 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130957.1 +1 validated p.L568 0.268 201 0.5% 128 35.9% 0 - - - - NULL PPPDE1 51029 genome.wustl.edu 37 1 244849911 244849911 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016076.3 +1 validated p.E19K 1.000 75 0% 51 21.6% 8 12.5% benign(0.362) tolerated(0.23) neutral(0.157) HMMPfam_DUF862 HNRNPU 3192 genome.wustl.edu 37 1 245019366 245019366 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031844.2 -1 reviewed p.Y669 1.000 252 0% 248 27.8% 292 46.5% - - - NULL ZNF695 57116 genome.wustl.edu 37 1 247150534 247150534 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020394.3 -1 validated p.R428I 1.000 248 0% 229 32.8% 1 0% benign(0.044) tolerated(0.33) neutral(0.026) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NLRP3 114548 genome.wustl.edu 37 1 247582186 247582186 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079821.2 +1 reviewed p.E30D 0.915 42 0% 55 29.1% 0 - possibly_damaging(0.574) tolerated(0.13) neutral(0.450) HMMPfam_PAAD_DAPIN,superfamily_DEATH_like NLRP3 114548 genome.wustl.edu 37 1 247582274 247582274 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079821.2 +1 reviewed p.D60N 0.458 56 0% 77 26% 0 - probably_damaging(0.959) tolerated(0.4) neutral(0.419) HMMPfam_PAAD_DAPIN,superfamily_DEATH_like OR2B11 127623 genome.wustl.edu 37 1 247614342 247614342 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004492.1 -1 provisional p.L315F 0.000 694 0% 639 26.6% 0 - possibly_damaging(0.45) tolerated(0.08) neutral(0.448) NULL C1orf150 148823 genome.wustl.edu 37 1 247712513 247712513 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145278.3 +1 provisional p.R7Q 0.001 81 0% 58 43.1% 0 - possibly_damaging(0.852) - - NULL OR2G2 81470 genome.wustl.edu 37 1 247752208 247752208 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001915.1 +1 provisional p.E183K 1.000 324 0% 382 29.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_SSF81321 OR2G3 81469 genome.wustl.edu 37 1 247769796 247769796 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001914.1 +1 provisional p.K303N 0.055 196 0% 165 30.9% 0 - possibly_damaging(0.492) tolerated(0.23) neutral(0.206) superfamily_Family A G protein-coupled receptor-like OR1C1 26188 genome.wustl.edu 37 1 247921073 247921073 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012353.2 -1 validated p.V212 0.090 122 0% 135 23% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR11L1 391189 genome.wustl.edu 37 1 248005120 248005120 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001959.1 -1 provisional p.L27F 0.961 94 0% 106 29.2% 0 - possibly_damaging(0.854) tolerated(0.1) deleterious(0.615) superfamily_SSF81321 OR2L13 284521 genome.wustl.edu 37 1 248263598 248263598 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175911.2 +1 provisional p.F307L 0.000 105 0% 116 21.6% 0 - benign(0) tolerated(0.62) neutral(0.004) NULL OR2M3 127062 genome.wustl.edu 37 1 248366449 248366449 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004689.1 +1 provisional p.L27P 0.028 753 0% 731 29.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Family A G protein-coupled receptor-like OR2M4 26245 genome.wustl.edu 37 1 248403107 248403107 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017504.1 +1 provisional p.R293C 0.000 172 0% 144 25% 0 - benign(0.233) deleterious(0.01) neutral(0.429) superfamily_SSF81321 OR2T33 391195 genome.wustl.edu 37 1 248436341 248436341 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004695.1 -1 provisional p.R259I 0.000 294 0% 295 29.2% 0 - possibly_damaging(0.951) tolerated(0.36) neutral(0.414) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T12 127064 genome.wustl.edu 37 1 248458302 248458302 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004692.1 -1 provisional p.F193 0.001 107 0% 119 21% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR14C36 127066 genome.wustl.edu 37 1 248512190 248512190 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001918.1 +1 provisional p.M38I 0.008 313 0% 184 21.2% 0 - possibly_damaging(0.452) tolerated(0.31) neutral(0.175) superfamily_SSF81321 OR2T4 127074 genome.wustl.edu 37 1 248525908 248525908 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004696.1 +1 provisional p.A342 0.000 274 0% 207 29% 0 - - - - NULL OR2T6 254879 genome.wustl.edu 37 1 248551552 248551552 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005471.1 +1 provisional p.T215A 0.000 96 0% 90 28.9% 0 - benign(0.01) tolerated(0.31) neutral(0.028) HMMPfam_7tm_1,superfamily_SSF81321 OR2T1 26696 genome.wustl.edu 37 1 248569526 248569526 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030904.1 +1 provisional p.I77M 0.759 249 0% 177 40.7% 0 - benign(0.002) deleterious(0) neutral(0.445) superfamily_SSF81321 OR2T1 26696 genome.wustl.edu 37 1 248570400 248570400 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030904.1 +1 provisional p.F369V 0.001 116 0% 70 48.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL OR2T2 401992 genome.wustl.edu 37 1 248616110 248616110 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004136.1 +1 provisional p.E4 0.002 336 0% 284 20.1% 0 - - - - NULL OR2T3 343173 genome.wustl.edu 37 1 248637506 248637506 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005495.1 +1 provisional p.I285 0.000 897 0% 748 17.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2T5 401993 genome.wustl.edu 37 1 248651994 248651994 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004697.1 +1 provisional p.I35 0.023 575 0.2% 454 16.7% 0 - - - - superfamily_SSF81321 OR2G6 391211 genome.wustl.edu 37 1 248685338 248685338 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013355.1 +1 validated p.R131C 0.991 126 0% 153 13.1% 0 - probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2G6 391211 genome.wustl.edu 37 1 248685523 248685523 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013355.1 +1 validated p.T192 0.018 192 0% 211 28.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T10 127069 genome.wustl.edu 37 1 248756887 248756887 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004693.1 -1 provisional p.F61L 0.626 140 0% 186 22% 0 - benign(0.092) tolerated(0.14) neutral(0.257) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF672 79894 genome.wustl.edu 37 1 249142607 249142607 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024836.1 +1 provisional p.V378 0.001 45 0% 39 35.9% 44 31.8% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PGBD2 267002 genome.wustl.edu 37 1 249211948 249211948 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170725.2 +1 validated p.E389* 0.979 228 0.4% 217 30.9% 2 100% - - - NULL TMEM18 129787 genome.wustl.edu 37 2 669842 669842 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152834.2 -1 validated p.S81L 0.998 68 0% 48 29.2% 48 45.8% probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL SNTG2 54221 genome.wustl.edu 37 2 1093905 1093905 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018968.3 +1 reviewed p.R78 1.000 247 0% 210 26.2% 0 - - - - HMMPfam_PDZ,superfamily_PDZ domain-like TPO 7173 genome.wustl.edu 37 2 1418270 1418270 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000547.5 +1 reviewed p.L30 0.000 24 0% 24 16.7% 0 - - - - NULL PXDN 7837 genome.wustl.edu 37 2 1691435 1691435 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012293.1 -1 validated p.A129T 1.000 32 0% 12 41.7% 1 0% benign(0.229) tolerated(0.08) neutral(0.323) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like MYT1L 23040 genome.wustl.edu 37 2 1926268 1926268 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015025.2 -1 validated p.D425N 1.000 115 0% 104 26.9% 0 - probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL MYT1L 23040 genome.wustl.edu 37 2 1926428 1926428 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015025.2 -1 validated p.T371 0.912 77 0% 73 31.5% 0 - - - - NULL RNASEH1 246243 genome.wustl.edu 37 2 3599890 3599890 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002936.3 -1 validated p.N85H 0.037 90 0% 101 30.7% 29 48.2% possibly_damaging(0.654) tolerated(0.12) deleterious(0.491) NULL COLEC11 78989 genome.wustl.edu 37 2 3691534 3691534 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024027.3 +1 validated p.F214 1.000 29 0% 26 26.9% 5 80% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like RSAD2 91543 genome.wustl.edu 37 2 7023644 7023644 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080657.4 +1 validated p.E163D 0.946 67 0% 54 27.8% 0 - benign(0.017) deleterious(0.04) neutral(0.349) HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 RNF144A 9781 genome.wustl.edu 37 2 7154890 7154890 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000432850 +1 known p.Y92C 0.998 68 0% 52 28.8% 4 0% - - - HMMPfam_IBR,HMMSmart_SM00647 KIDINS220 57498 genome.wustl.edu 37 2 8871069 8871069 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020738.2 -1 validated p.F1699 0.033 102 0% 90 34.4% 35 57.1% - - - NULL KIDINS220 57498 genome.wustl.edu 37 2 8891731 8891731 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020738.2 -1 validated p.L1019I 1.000 113 0% 99 27.3% 7 28.5% probably_damaging(0.961) tolerated(0.06) deleterious(0.727) NULL MBOAT2 129642 genome.wustl.edu 37 2 9017115 9017115 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000474341 -1 known NULL 0.000 96 0% 79 43% 1 0% - - - - ASAP2 8853 genome.wustl.edu 37 2 9419459 9419459 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003887.2 +1 reviewed p.D47G 1.000 130 0% 112 25% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ASAP2 8853 genome.wustl.edu 37 2 9496336 9496336 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003887.2 +1 reviewed p.E397* 1.000 164 0% 140 35.7% 9 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ASAP2 8853 genome.wustl.edu 37 2 9496450 9496450 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003887.2 +1 reviewed p.V435I 0.935 72 0% 69 36.2% 9 55.5% benign(0) tolerated(0.38) neutral(0.018) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain IAH1 285148 genome.wustl.edu 37 2 9621568 9621568 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039613.1 +1 provisional p.I146S 0.010 67 0% 67 29.9% 60 36.6% benign(0.174) tolerated(0.39) neutral(0.032) HMMPfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type ADAM17 6868 genome.wustl.edu 37 2 9633917 9633917 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003183.4 -1 reviewed p.R651Q 1.000 125 0% 108 29.6% 19 21% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ADAM17 6868 genome.wustl.edu 37 2 9668046 9668046 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003183.4 -1 reviewed p.R163I 1.000 99 0% 75 41.3% 1 0% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL TAF1B 9014 genome.wustl.edu 37 2 10016042 10016042 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005680.2 +1 reviewed p.R201Q 0.041 317 0% 301 31.9% 5 20% benign(0.076) tolerated(0.11) neutral(0.277) NULL ODC1 4953 genome.wustl.edu 37 2 10583902 10583902 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002539.1 -1 reviewed p.F170 1.000 135 0% 136 32.4% 312 47.7% - - - HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel GREB1 9687 genome.wustl.edu 37 2 11716519 11716519 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014668.3 +1 reviewed p.F165L 1.000 152 0% 160 31.9% 1 100% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL GREB1 9687 genome.wustl.edu 37 2 11728910 11728910 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014668.3 +1 reviewed p.D400Y 1.000 95 0% 74 33.8% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL LPIN1 23175 genome.wustl.edu 37 2 11959611 11959611 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145693.1 +1 reviewed p.E766K 1.000 284 0% 202 24.3% 9 22.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_LNS2,HMMSmart_LNS2,superfamily_SSF56784 TRIB2 28951 genome.wustl.edu 37 2 12858460 12858460 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021643.3 +1 reviewed p.I9 1.000 53 0% 59 30.5% 27 18.5% - - - NULL DDX1 1653 genome.wustl.edu 37 2 15736871 15736871 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004939.1 +1 reviewed p.G49E 1.000 206 0% 159 23.3% 36 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD51AP2 729475 genome.wustl.edu 37 2 17695303 17695303 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099218.2 -1 provisional p.E1102* 0.882 98 0% 73 27.4% 0 - - - - NULL RAD51AP2 729475 genome.wustl.edu 37 2 17696783 17696783 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099218.2 -1 provisional p.K967T 1.000 163 0% 121 13.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RAD51AP2 729475 genome.wustl.edu 37 2 17697825 17697825 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099218.2 -1 provisional p.N620H 0.169 56 0% 62 35.5% 0 - possibly_damaging(0.926) deleterious(0) deleterious(0.819) NULL SMC6 79677 genome.wustl.edu 37 2 17896261 17896261 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142286.1 -1 validated p.A533T 0.997 484 0.2% 340 25.9% 8 25% possibly_damaging(0.704) tolerated(0.19) neutral(0.303) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases KCNS3 3790 genome.wustl.edu 37 2 18112795 18112795 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002252.3 +1 reviewed p.R174 0.001 211 0% 224 33% 1 0% - - - NULL NT5C1B 93034 genome.wustl.edu 37 2 18768783 18768783 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002006.1 -1 validated p.R36C 0.186 303 0% 189 29.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL APOB 338 genome.wustl.edu 37 2 21229215 21229215 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000384.2 -1 reviewed p.Y3509D 0.993 173 0% 173 30.6% 0 - probably_damaging(1) - - NULL APOB 338 genome.wustl.edu 37 2 21230434 21230434 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000384.2 -1 reviewed p.F3102L 0.998 263 0% 239 35.1% 0 - probably_damaging(0.982) - - NULL APOB 338 genome.wustl.edu 37 2 21230968 21230968 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000384.2 -1 reviewed p.S2924 0.864 376 0% 353 32% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21234054 21234054 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000384.2 -1 reviewed p.F1896I 0.017 356 0% 338 36.1% 0 - probably_damaging(0.958) - - NULL APOB 338 genome.wustl.edu 37 2 21256201 21256201 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000384.2 -1 reviewed p.S365Y 0.150 257 0% 266 28.2% 0 - probably_damaging(0.999) - - HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain ATAD2B 54454 genome.wustl.edu 37 2 24046307 24046307 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017552.1 -1 validated p.Q651P 0.753 103 0% 80 20% 0 - benign(0.002) tolerated(0.23) neutral(0.042) superfamily_P-loop containing nucleoside triphosphate hydrolases UBXN2A 165324 genome.wustl.edu 37 2 24207600 24207600 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181713.3 +1 validated p.N161K 0.009 137 0% 118 36.4% 13 53.8% benign(0) tolerated(0.89) - superfamily_SSF54236 TP53I3 9540 genome.wustl.edu 37 2 24307063 24307063 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004881.2 -1 reviewed p.M45T 0.369 39 0% 38 36.8% 44 50% benign(0.029) deleterious(0) neutral(0.446) superfamily_GroES-like,HMMPfam_ADH_N PFN4 375189 genome.wustl.edu 37 2 24344080 24344080 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199346.1 -1 provisional p.D70Y 1.000 241 0% 163 21.5% 2 0% benign(0) tolerated(0.14) neutral(0.249) HMMPfam_Profilin,HMMSmart_SM00392,superfamily_Profilin (actin-binding protein) ITSN2 50618 genome.wustl.edu 37 2 24426614 24426614 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006277.2 -1 reviewed p.R1659* 1.000 113 0% 91 24.2% 6 50% - - - HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ITSN2 50618 genome.wustl.edu 37 2 24509131 24509131 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006277.2 -1 reviewed p.E605* 1.000 148 0% 112 34.8% 3 0% - - - NULL ITSN2 50618 genome.wustl.edu 37 2 24524861 24524861 + Frame_Shift_Del DEL G G - novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006277.2 -1 reviewed p.P323fs 1.000 - - - - - - - - - HMMSmart_SM00027,superfamily_EF-hand NCOA1 8648 genome.wustl.edu 37 2 24888650 24888650 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003743.4 +1 reviewed p.K41T 1.000 106 0% 107 29% 1 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain NCOA1 8648 genome.wustl.edu 37 2 24930610 24930610 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003743.4 +1 reviewed p.E757D 1.000 183 0% 207 42% 3 33.3% probably_damaging(0.994) tolerated(1) neutral(0.452) NULL NCOA1 8648 genome.wustl.edu 37 2 24951184 24951184 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003743.4 +1 reviewed p.I909L 1.000 127 0% 101 22.8% 12 33.3% benign(0.061) tolerated(0.83) neutral(0.005) NULL POMC 5443 genome.wustl.edu 37 2 25384246 25384246 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000939.2 -1 reviewed p.E170K 1.000 19 0% 21 38.1% 1 0% benign(0.014) deleterious(0.01) neutral(0.406) HMMPfam_ACTH_domain DNMT3A 1788 genome.wustl.edu 37 2 25463270 25463270 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022552.3 -1 reviewed p.A741 0.998 93 0% 82 34.1% 14 42.8% - - - HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases DTNB 1838 genome.wustl.edu 37 2 25851158 25851158 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021907.3 -1 reviewed p.E82K 1.000 79 0% 71 42.3% 11 63.6% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_efhand_1,superfamily_EF-hand ASXL2 55252 genome.wustl.edu 37 2 25966396 25966396 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018263.4 -1 validated p.G937E 0.999 302 0% 281 31.3% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR113 165082 genome.wustl.edu 37 2 26534793 26534793 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145168.1 -1 validated p.F601 0.289 50 0% 51 19.6% 0 - - - - NULL CCDC164 92749 genome.wustl.edu 37 2 26671587 26671587 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145038.2 +1 validated p.A475 0.000 64 0% 53 39.6% 0 - - - - NULL OTOF 9381 genome.wustl.edu 37 2 26688692 26688692 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194248.2 -1 reviewed p.A1549 1.000 49 0% 54 11.1% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CIB4 130106 genome.wustl.edu 37 2 26818053 26818053 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029881.1 -1 provisional p.R107C 1.000 86 0% 88 28.4% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 AGBL5 60509 genome.wustl.edu 37 2 27276329 27276329 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021831.5 +1 validated p.I92S 1.000 121 0% 108 31.5% 28 64.2% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL AGBL5 60509 genome.wustl.edu 37 2 27278836 27278836 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021831.5 +1 validated p.L399F 0.018 165 0% 165 31.5% 32 50% benign(0.003) tolerated(0.16) neutral(0.059) superfamily_Zn-dependent exopeptidases EMILIN1 11117 genome.wustl.edu 37 2 27306779 27306779 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000433140 +1 known p.S106L 0.211 12 0% 14 42.9% 107 0% - - - NULL PREB 10113 genome.wustl.edu 37 2 27354655 27354655 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000456259 -1 known p.C92R 0.982 196 0% 161 24.2% 67 44.7% - - - superfamily_WD40 repeat-like PREB 10113 genome.wustl.edu 37 2 27356559 27356559 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013388.4 -1 reviewed p.R56C 0.973 47 0% 27 18.5% 32 43.7% benign(0.001) tolerated(0.22) neutral(0.042) NULL SLC5A6 8884 genome.wustl.edu 37 2 27426157 27426157 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021095.2 -1 validated p.R384Q 1.000 240 0% 220 32.7% 35 62.8% benign(0.013) tolerated(0.13) neutral(0.253) HMMPfam_SSF DNAJC5G 285126 genome.wustl.edu 37 2 27500695 27500695 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173650.1 +1 provisional p.D63N 1.000 110 0% 91 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain GTF3C2 2976 genome.wustl.edu 37 2 27551331 27551331 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000415683 -1 known p.Y155 0.985 211 0% 241 28.2% 2 0% unknown(0) tolerated(0.07) - superfamily_WD40 repeat-like EIF2B4 8890 genome.wustl.edu 37 2 27591956 27591956 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172195.3 -1 reviewed p.R132Q 1.000 143 0% 161 32.9% 42 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL IFT172 26160 genome.wustl.edu 37 2 27670410 27670410 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015662.1 -1 validated p.R1544H 1.000 190 0% 196 33.7% 22 31.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IFT172 26160 genome.wustl.edu 37 2 27699521 27699521 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015662.1 -1 validated p.K466N 1.000 272 0% 209 32.5% 3 0% possibly_damaging(0.76) deleterious(0.04) deleterious(0.630) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase C2orf16 84226 genome.wustl.edu 37 2 27799476 27799476 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032266.3 +1 validated p.N13H 0.003 83 0% 106 32.1% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL C2orf16 84226 genome.wustl.edu 37 2 27800640 27800640 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032266.3 +1 validated p.E401* 0.088 113 0% 170 23.5% 0 - - - - NULL C2orf16 84226 genome.wustl.edu 37 2 27803796 27803796 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032266.3 +1 validated p.R1453* 0.003 228 0% 216 29.6% 2 100% - - - NULL C2orf16 84226 genome.wustl.edu 37 2 27805240 27805240 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032266.3 +1 validated p.R1934H 0.000 179 0.6% 180 31.1% 0 - unknown(0) deleterious(0.01) - NULL ZNF512 84450 genome.wustl.edu 37 2 27821023 27821023 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032434.2 +1 validated p.S60L 0.986 206 0% 176 29.5% 4 100% possibly_damaging(0.832) tolerated(0.1) deleterious(0.603) NULL ZNF512 84450 genome.wustl.edu 37 2 27825385 27825385 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032434.2 +1 validated p.R242Q 1.000 138 0% 131 29.8% 7 28.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZNF512 84450 genome.wustl.edu 37 2 27844109 27844109 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032434.2 +1 validated p.R495 1.000 185 0% 175 33.7% 9 33.3% - - - NULL PLB1 151056 genome.wustl.edu 37 2 28752630 28752630 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153021.4 +1 validated p.N151S 0.024 73 0% 84 39.3% 0 - benign(0) tolerated(0.52) neutral(0.009) NULL TRMT61B 55006 genome.wustl.edu 37 2 29092451 29092451 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017910.3 -1 validated p.F231 0.046 461 0% 387 31.3% 7 42.8% - - - HMMPfam_GCD14,superfamily_SSF53335 TRMT61B 55006 genome.wustl.edu 37 2 29092644 29092644 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017910.3 -1 validated p.K167T 0.000 183 0% 187 34.8% 3 33.3% benign(0) tolerated(0.13) neutral(0.253) HMMPfam_GCD14,superfamily_SSF53335 WDR43 23160 genome.wustl.edu 37 2 29152559 29152559 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015131.1 +1 validated p.D474N 1.000 191 0% 140 27.9% 24 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like FAM179A 165186 genome.wustl.edu 37 2 29237302 29237302 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199280.2 +1 validated p.A307T 0.000 70 0% 62 38.7% 1 100% benign(0.14) tolerated(0.11) neutral(0.284) NULL C2orf71 388939 genome.wustl.edu 37 2 29294133 29294133 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029883.1 -1 provisional p.T999A 0.207 30 0% 20 45% 0 - benign(0.007) tolerated(1) - NULL LCLAT1 253558 genome.wustl.edu 37 2 30790941 30790941 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182551.3 +1 validated p.R214Q 0.995 188 0% 107 22.4% 7 71.4% probably_damaging(0.987) tolerated(0.1) deleterious(0.723) HMMPfam_Acyltransferase,HMMSmart_SM00563 CAPN13 92291 genome.wustl.edu 37 2 30964804 30964804 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000450650 -1 known p.N66S 0.000 115 0% 88 33% 0 - - - - NULL EHD3 30845 genome.wustl.edu 37 2 31457522 31457522 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014600.2 +1 validated p.R12M 1.000 37 0% 21 47.6% 1 0% benign(0.026) deleterious(0.01) neutral(0.407) NULL EHD3 30845 genome.wustl.edu 37 2 31457533 31457533 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014600.2 +1 validated p.E16K 1.000 42 0% 29 27.6% 0 - benign(0.001) tolerated(0.2) neutral(0.049) NULL EHD3 30845 genome.wustl.edu 37 2 31489265 31489265 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014600.2 +1 validated p.D435N 1.000 61 0% 41 26.8% 1 0% benign(0.001) tolerated(0.22) neutral(0.042) superfamily_EF-hand XDH 7498 genome.wustl.edu 37 2 31600092 31600092 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000379.3 -1 reviewed p.F418L 1.000 133 0% 100 19% 2 0% benign(0.038) tolerated(0.1) neutral(0.288) superfamily_CO_deh_flav_C SRD5A2 6716 genome.wustl.edu 37 2 31754438 31754438 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000233139 -1 known p.A212T 0.864 245 0% 212 35.8% 0 - - - - HMMPfam_Steroid_dh MEMO1 51072 genome.wustl.edu 37 2 32117134 32117134 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000422936 -1 known p.S51L 1.000 336 0% 284 39.1% 15 6.6% - - - HMMPfam_Memo DPY30 84661 genome.wustl.edu 37 2 32264386 32264386 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032574.2 -1 validated p.N16H 1.000 157 0% 147 12.2% 123 18.6% possibly_damaging(0.873) deleterious(0.03) deleterious(0.704) NULL SPAST 6683 genome.wustl.edu 37 2 32361680 32361680 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014946.3 +1 reviewed p.E432* 1.000 255 0% 284 25.7% 3 0% - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRC4 58484 genome.wustl.edu 37 2 32475828 32475828 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000360906 -1 known p.L369M 0.278 190 0% 119 27.7% 0 - probably_damaging(0.999) tolerated(0.24) deleterious(0.528) NULL NLRC4 58484 genome.wustl.edu 37 2 32476016 32476016 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000360906 -1 known p.Q306R 0.098 162 0% 170 29.4% 1 100% benign(0) tolerated(0.18) neutral(0.056) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases YIPF4 84272 genome.wustl.edu 37 2 32515564 32515564 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032312.3 +1 validated p.S31* 1.000 118 0% 84 32.1% 9 11.1% - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32640968 32640968 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016252.3 +1 reviewed p.R870Q 1.000 205 0% 202 31.7% 0 - probably_damaging(0.987) tolerated(0.25) deleterious(0.473) NULL BIRC6 57448 genome.wustl.edu 37 2 32704682 32704682 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016252.3 +1 reviewed p.T2469P 1.000 55 0% 57 26.3% 2 50% benign(0.039) tolerated(0.08) neutral(0.302) NULL BIRC6 57448 genome.wustl.edu 37 2 32724695 32724695 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016252.3 +1 reviewed p.V2850 0.876 96 0% 112 31.2% 0 - - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32735648 32735648 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016252.3 +1 reviewed p.T3431 0.110 403 0% 301 28.9% 8 25% - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32740507 32740507 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016252.3 +1 reviewed p.C3673 0.153 96 0% 98 32.7% 9 88.8% - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32740650 32740650 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016252.3 +1 reviewed p.H3721R 1.000 153 0% 121 26.4% 9 33.3% probably_damaging(0.982) deleterious(0.03) deleterious(0.791) NULL BIRC6 57448 genome.wustl.edu 37 2 32774544 32774544 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016252.3 +1 reviewed p.D4380E 0.997 148 0% 109 28.4% 11 45.4% possibly_damaging(0.689) deleterious(0) deleterious(0.691) NULL LTBP1 4052 genome.wustl.edu 37 2 33623458 33623458 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206943.2 +1 reviewed p.N1672S 0.997 173 0% 125 24% 63 34.9% benign(0.003) tolerated(0.29) neutral(0.029) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin ENSG00000181250 0 genome.wustl.edu 37 2 33952572 33952572 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000322472 -1 known p.Y91D 1.000 46 0% 39 35.9% 0 - - - - HMMPfam_MARVEL CRIM1 51232 genome.wustl.edu 37 2 36623862 36623862 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016441.1 +1 provisional p.R146Q 1.000 167 0% 190 28.9% 13 23% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL VIT 5212 genome.wustl.edu 37 2 37036099 37036099 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053276.3 +1 validated p.R625Q 0.997 43 0% 50 10% 0 - possibly_damaging(0.87) tolerated(0.22) neutral(0.380) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 HEATR5B 54497 genome.wustl.edu 37 2 37286077 37286077 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019024.1 -1 validated p.R635* 1.000 82 0% 64 21.9% 0 - - - - superfamily_ARM repeat HEATR5B 54497 genome.wustl.edu 37 2 37292013 37292013 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019024.1 -1 validated p.D485G 1.000 129 0% 131 38.2% 1 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_ARM repeat CEBPZ 10153 genome.wustl.edu 37 2 37449554 37449554 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005760.2 -1 validated p.V678 0.275 290 0% 284 36.6% 15 40% - - - HMMPfam_CBF,superfamily_ARM repeat PRKD3 23683 genome.wustl.edu 37 2 37520341 37520341 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005813.3 -1 reviewed p.I121S 1.000 254 0% 208 28.4% 2 100% benign(0.103) deleterious(0) neutral(0.453) NULL QPCT 25797 genome.wustl.edu 37 2 37594509 37594509 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012413.3 +1 reviewed p.P227 0.003 212 0.5% 222 30.6% 6 0% - - - HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases CDC42EP3 10602 genome.wustl.edu 37 2 37873097 37873097 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006449.3 -1 reviewed p.E212K 0.689 124 0% 89 33.7% 18 50% benign(0.048) deleterious(0.02) neutral(0.386) NULL LOC344382 344382 genome.wustl.edu 37 2 38044521 38044521 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_293026.6 +1 model p.K155T 0.997 165 0% 113 29.2% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like SOS1 6654 genome.wustl.edu 37 2 39249815 39249815 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005633.3 -1 reviewed p.N585T 1.000 168 0% 123 30.1% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Ras GEF MAP4K3 8491 genome.wustl.edu 37 2 39477794 39477794 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000437545 -1 known p.F850S 0.999 77 0% 73 20.5% 15 33.3% - - - NULL SLC8A1 6546 genome.wustl.edu 37 2 40655918 40655918 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021097.2 -1 validated p.S501 0.051 126 0% 111 27.9% 2 0% - - - NULL EML4 27436 genome.wustl.edu 37 2 42515438 42515438 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019063.3 +1 validated p.K398 0.999 134 0% 143 30.1% 10 20% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like HAAO 23498 genome.wustl.edu 37 2 42995063 42995063 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012205.2 -1 reviewed p.I212 0.000 78 0% 75 29.3% 3 0% - - - superfamily_RmlC-like cupins THADA 63892 genome.wustl.edu 37 2 43776470 43776470 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083953.1 -1 validated p.I995 0.998 37 0% 35 31.4% 2 0% - - - HMMPfam_DUF2428 THADA 63892 genome.wustl.edu 37 2 43814117 43814117 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083953.1 -1 validated p.F109L 0.018 158 0% 197 36% 2 0% benign(0.014) tolerated(0.95) neutral(0.001) NULL LOC728819 728819 genome.wustl.edu 37 2 43903162 43903162 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001101330.1 -1 provisional p.L100 0.220 324 0% 264 12.5% 0 - - - - NULL PLEKHH2 130271 genome.wustl.edu 37 2 43921627 43921627 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172069.3 +1 validated p.E132* 1.000 200 0.5% 185 27.6% 0 - - - - NULL LRPPRC 10128 genome.wustl.edu 37 2 44187771 44187771 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133259.3 -1 reviewed p.E497D 1.000 170 0% 119 26.9% 22 63.6% probably_damaging(0.998) tolerated(0.51) deleterious(0.483) NULL PREPL 9581 genome.wustl.edu 37 2 44586756 44586756 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006036.4 -1 reviewed p.F33 0.967 259 0% 206 27.7% 3 100% - - - NULL CAMKMT 79823 genome.wustl.edu 37 2 44970791 44970791 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024766.3 +1 validated p.V218 1.000 99 0% 72 29.2% 16 6.2% - - - HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases SRBD1 55133 genome.wustl.edu 37 2 45826598 45826598 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018079.4 -1 validated p.D213G 1.000 611 0% 686 28.1% 3 33.3% possibly_damaging(0.949) tolerated(0.15) deleterious(0.634) NULL ATP6V1E2 90423 genome.wustl.edu 37 2 46739186 46739186 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080653.3 -1 validated p.R222I 1.000 147 0% 140 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TTC7A 57217 genome.wustl.edu 37 2 47300973 47300973 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020458.2 +1 validated p.E830K 0.996 25 0% 20 50% 28 17.8% possibly_damaging(0.49) tolerated(0.07) deleterious(0.482) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like EPCAM 4072 genome.wustl.edu 37 2 47604182 47604182 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002354.2 +1 reviewed p.Y174C 0.987 95 0% 79 26.6% 806 45.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MSH2 4436 genome.wustl.edu 37 2 47710069 47710069 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000251.1 +1 reviewed p.R929Q 0.989 46 0% 57 33.3% 34 38.2% probably_damaging(0.959) tolerated(0.23) neutral(0.444) NULL MSH6 2956 genome.wustl.edu 37 2 48026567 48026567 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000179.2 +1 reviewed p.R482Q 1.000 187 0% 241 29.9% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MutS_I,superfamily_DNA repair protein MutS domain I MSH6 2956 genome.wustl.edu 37 2 48028001 48028001 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000179.2 +1 reviewed p.N960T 0.984 252 0% 256 16.4% 29 13.7% benign(0.008) deleterious(0.03) neutral(0.364) HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III,HMMPfam_MutS_IV MSH6 2956 genome.wustl.edu 37 2 48030686 48030686 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000179.2 +1 reviewed p.T1100 0.559 346 0% 306 34.3% 71 36.6% - - - HMMPfam_MutS_V,HMMSmart_SM00533,superfamily_P-loop containing nucleoside triphosphate hydrolases STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48809500 48809500 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172311.1 +1 reviewed p.S576 0.000 150 0% 153 26.1% 0 - - - - HMMPfam_Adap_comp_sub,superfamily_AP50 STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48873710 48873710 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172311.1 +1 reviewed p.Q873H 0.275 225 0.4% 128 18% 1 0% possibly_damaging(0.496) tolerated(0.06) deleterious(0.488) HMMPfam_TFIIA LHCGR 3973 genome.wustl.edu 37 2 48915014 48915014 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000233.3 -1 reviewed p.F641C 1.000 515 0% 487 33.9% 0 - possibly_damaging(0.502) tolerated(0.19) neutral(0.217) superfamily_Family A G protein-coupled receptor-like GTF2A1L 11036 genome.wustl.edu 37 2 48960042 48960042 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172196.1 +1 reviewed p.R447I 0.000 405 0% 302 10.3% 0 - benign(0.006) tolerated(0.14) neutral(0.249) HMMPfam_TFIIA FSHR 2492 genome.wustl.edu 37 2 49189898 49189898 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000145.3 -1 reviewed p.P688S 1.000 185 0% 126 29.4% 0 - possibly_damaging(0.773) deleterious(0.03) deleterious(0.652) NULL FSHR 2492 genome.wustl.edu 37 2 49190009 49190009 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000145.3 -1 reviewed p.A651T 1.000 139 0% 106 34% 0 - possibly_damaging(0.943) deleterious(0) deleterious(0.832) superfamily_Family A G protein-coupled receptor-like FSHR 2492 genome.wustl.edu 37 2 49216149 49216149 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000145.3 -1 reviewed p.S164Y 1.000 171 0% 180 26.7% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_L domain-like NRXN1 9378 genome.wustl.edu 37 2 50318556 50318556 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135659.1 -1 reviewed p.N1248T 1.000 154 0% 141 31.9% 0 - possibly_damaging(0.452) deleterious(0.01) deleterious(0.553) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN1 9378 genome.wustl.edu 37 2 51149007 51149007 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135659.1 -1 reviewed p.G311* 1.000 85 0% 78 34.6% 0 - - - - superfamily_ConA_like_lec_gl ASB3 51130 genome.wustl.edu 37 2 53943731 53943731 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016115.3 -1 reviewed p.H252Y 1.000 408 0% 317 28.1% 6 66.6% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ASB3 51130 genome.wustl.edu 37 2 53977996 53977996 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016115.3 -1 reviewed p.K93N 0.984 174 0% 169 24.9% 8 62.5% benign(0.013) tolerated(0.17) neutral(0.059) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PSME4 23198 genome.wustl.edu 37 2 54114472 54114472 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014614.2 -1 validated p.I1551M 1.000 256 0% 241 30.3% 20 60% possibly_damaging(0.911) tolerated(0.21) neutral(0.407) superfamily_ARM repeat SPTBN1 6711 genome.wustl.edu 37 2 54858699 54858699 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003128.2 +1 reviewed p.Q1172R 1.000 136 0% 87 27.6% 27 25.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat RTN4 57142 genome.wustl.edu 37 2 55253096 55253096 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020532.4 -1 reviewed p.P713 0.995 219 0% 217 27.2% 1 100% - - - NULL RTN4 57142 genome.wustl.edu 37 2 55253208 55253208 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020532.4 -1 reviewed p.E676A 0.928 175 0% 194 29.9% 2 50% possibly_damaging(0.675) tolerated(0.65) neutral(0.242) NULL C2orf63 130162 genome.wustl.edu 37 2 55403096 55403096 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152385.2 -1 validated p.D531Y 0.955 124 0% 158 36.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C2orf63 130162 genome.wustl.edu 37 2 55436805 55436805 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152385.2 -1 validated p.R221Q 0.970 355 0% 315 23.2% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL CCDC88A 55704 genome.wustl.edu 37 2 55523610 55523610 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135597.1 -1 validated p.E1624D 0.999 78 0% 76 34.2% 6 33.3% benign(0.001) tolerated(0.66) neutral(0.003) NULL CCDC88A 55704 genome.wustl.edu 37 2 55646031 55646031 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135597.1 -1 validated p.A29T 1.000 136 0% 105 22.9% 1 100% benign(0.002) deleterious(0.04) neutral(0.349) NULL CCDC104 112942 genome.wustl.edu 37 2 55756108 55756108 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080667.5 +1 validated p.R126Q 1.000 60 0% 54 38.9% 124 37.9% probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL CCDC104 112942 genome.wustl.edu 37 2 55771189 55771189 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080667.5 +1 validated p.A252 0.008 247 0% 195 13.3% 179 13.4% - - - NULL PNPT1 87178 genome.wustl.edu 37 2 55872517 55872517 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033109.3 -1 validated p.R597* 1.000 82 0% 47 19.1% 15 0% - - - superfamily_3_ExoRNase,superfamily_SSF54791 MIR216A 406998 genome.wustl.edu 37 2 56216086 56216086 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000385063 -1 known NULL 0.996 309 0% 266 33.1% 0 - - - - - CCDC85A 114800 genome.wustl.edu 37 2 56419897 56419897 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080433.1 +1 provisional p.D188N 1.000 55 0% 51 33.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_DUF2216 CCDC85A 114800 genome.wustl.edu 37 2 56420020 56420020 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080433.1 +1 provisional p.A229T 0.007 59 0% 41 34.1% 0 - benign(0.291) tolerated(0.58) neutral(0.095) NULL FANCL 55120 genome.wustl.edu 37 2 58431291 58431291 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114636.1 -1 reviewed p.L149V 0.999 187 0% 98 32.7% 7 42.8% possibly_damaging(0.637) tolerated(0.66) neutral(0.226) HMMPfam_WD-3 FANCL 55120 genome.wustl.edu 37 2 58456962 58456962 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114636.1 -1 reviewed p.R68Q 0.716 141 0% 105 26.7% 12 25% benign(0) tolerated(0.84) neutral(0.001) NULL BCL11A 53335 genome.wustl.edu 37 2 60689494 60689494 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022893.3 -1 reviewed p.L185I 1.000 84 0% 71 28.2% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PAPOLG 64895 genome.wustl.edu 37 2 61002213 61002213 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022894.2 +1 reviewed p.E217* 1.000 105 0% 87 26.4% 2 0% - - - HMMPfam_PAP_central,superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain PAPOLG 64895 genome.wustl.edu 37 2 61009113 61009113 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022894.2 +1 reviewed p.T334A 1.000 279 0% 280 28.6% 7 14.2% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_PAP_central,superfamily_PAP/OAS1 substrate-binding domain AHSA2 130872 genome.wustl.edu 37 2 61411852 61411852 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000389584 +1 known p.T161A 1.000 87 0% 72 23.6% 3 66.6% probably_damaging(0.99) tolerated(0.19) deleterious(0.491) HMMPfam_Aha1_N,superfamily_Activator of Hsp90 ATPase Aha1 USP34 9736 genome.wustl.edu 37 2 61468730 61468730 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014709.3 -1 validated p.E2248K 1.000 115 0% 83 34.9% 5 40% benign(0) - - NULL USP34 9736 genome.wustl.edu 37 2 61484030 61484030 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014709.3 -1 validated p.V2035A 1.000 93 0% 68 23.5% 1 0% probably_damaging(1) - - HMMPfam_UCH,superfamily_Cysteine proteinases USP34 9736 genome.wustl.edu 37 2 61484360 61484360 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014709.3 -1 validated p.I1990 0.999 142 0% 114 30.7% 6 33.3% - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP34 9736 genome.wustl.edu 37 2 61486889 61486889 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014709.3 -1 validated p.K1934T 1.000 127 0% 129 37.2% 9 22.2% benign(0.428) - - HMMPfam_UCH,superfamily_Cysteine proteinases USP34 9736 genome.wustl.edu 37 2 61561087 61561087 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014709.3 -1 validated p.R922C 1.000 69 0% 26 19.2% 2 0% probably_damaging(1) - - NULL XPO1 7514 genome.wustl.edu 37 2 61725817 61725817 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003400.3 -1 reviewed p.L250F 1.000 118 0% 89 24.7% 22 22.7% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Xpo1,superfamily_ARM-type_fold FAM161A 84140 genome.wustl.edu 37 2 62066926 62066926 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032180.2 -1 validated p.G405R 0.000 128 0% 153 34.6% 1 0% possibly_damaging(0.731) tolerated(0.78) neutral(0.268) HMMPfam_UPF0564 FAM161A 84140 genome.wustl.edu 37 2 62067079 62067079 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032180.2 -1 validated p.R354* 0.004 285 0% 347 26.2% 0 - - - - HMMPfam_UPF0564 EHBP1 23301 genome.wustl.edu 37 2 63169980 63169980 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015252.3 +1 reviewed p.R473I 1.000 179 0% 117 27.4% 4 75% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain UGP2 7360 genome.wustl.edu 37 2 64113605 64113605 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006759.3 +1 reviewed p.S335Y 1.000 207 0% 199 31.2% 74 43.2% probably_damaging(0.961) tolerated(0.07) deleterious(0.723) HMMPfam_UDPGP,superfamily_Nucleotide-diphospho-sugar transferases AFTPH 54812 genome.wustl.edu 37 2 64778749 64778749 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203437.2 +1 validated p.F47 1.000 245 0% 215 27.9% 9 66.6% - - - NULL CEP68 23177 genome.wustl.edu 37 2 65300091 65300091 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015147.2 +1 validated p.E621* 0.095 104 0% 78 29.5% 4 0% - - - NULL RAB1A 5861 genome.wustl.edu 37 2 65318184 65318184 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004161.4 -1 reviewed p.R74Q 1.000 69 0% 95 12.6% 198 4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ETAA1 54465 genome.wustl.edu 37 2 67630504 67630504 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019002.3 +1 validated p.N230K 0.177 133 0% 146 26% 2 0% probably_damaging(0.97) tolerated(0.07) deleterious(0.732) NULL BMP10 27302 genome.wustl.edu 37 2 69098343 69098343 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014482.1 -1 reviewed p.D50N 0.988 237 0% 244 34.4% 0 - possibly_damaging(0.582) tolerated(0.71) neutral(0.202) NULL AAK1 22848 genome.wustl.edu 37 2 69732723 69732723 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014911.3 -1 reviewed p.T749 0.038 85 0% 90 17.8% 1 0% - - - NULL GMCL1 64395 genome.wustl.edu 37 2 70106122 70106122 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178439.3 +1 provisional p.E512* 1.000 371 0% 281 35.2% 16 43.7% - - - NULL TIA1 7072 genome.wustl.edu 37 2 70439877 70439877 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022173.2 -1 reviewed p.R379G 1.000 212 0% 191 26.2% 43 37.2% benign(0.001) tolerated(0.79) neutral(0.001) NULL PCYOX1 51449 genome.wustl.edu 37 2 70504364 70504364 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016297.3 +1 validated p.R453Q 0.112 200 0% 152 32.2% 33 54.5% benign(0.025) tolerated(0.44) neutral(0.014) HMMPfam_Prenylcys_lyase,superfamily_FAD/NAD(P)-binding domain MPHOSPH10 10199 genome.wustl.edu 37 2 71360708 71360708 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005791.1 +1 reviewed e2+2 1.000 164 0% 192 40.6% 0 - - - - - MPHOSPH10 10199 genome.wustl.edu 37 2 71368480 71368480 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005791.1 +1 reviewed p.E476A 1.000 393 0% 407 16.7% 16 37.5% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Mpp10 PAIP2B 400961 genome.wustl.edu 37 2 71417072 71417072 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020459.1 -1 validated p.F73C 1.000 55 0% 31 32.3% 10 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ZNF638 27332 genome.wustl.edu 37 2 71592592 71592592 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001014972.1 +1 reviewed p.R584Q 0.795 117 0% 85 35.3% 5 60% benign(0.014) deleterious(0) neutral(0.445) NULL ZNF638 27332 genome.wustl.edu 37 2 71592753 71592753 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001014972.1 +1 reviewed p.R638C 0.999 100 0% 95 29.5% 11 27.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CYP26B1 56603 genome.wustl.edu 37 2 72371271 72371271 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019885.2 -1 reviewed p.P92 0.941 51 0% 27 48.1% 1 0% - - - HMMPfam_p450,superfamily_Cytochrome_P450 RAB11FIP5 26056 genome.wustl.edu 37 2 73316113 73316113 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015470.2 -1 validated p.S254 0.003 61 0% 65 15.4% 3 0% - - - NULL SMYD5 10322 genome.wustl.edu 37 2 73453017 73453017 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006062.2 +1 validated p.E400 0.980 169 0% 192 28.6% 19 42.1% - - - NULL EGR4 1961 genome.wustl.edu 37 2 73519596 73519596 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001965.3 -1 validated p.G150 0.992 11 0% 13 61.5% 1 0% - - - NULL ALMS1 7840 genome.wustl.edu 37 2 73646281 73646281 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015120.4 +1 reviewed p.E161* 1.000 298 0% 216 30.1% 0 - - - - NULL ALMS1 7840 genome.wustl.edu 37 2 73651668 73651668 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015120.4 +1 reviewed p.R292H 0.492 119 0% 75 33.3% 0 - benign(0.001) tolerated(0.23) neutral(0.042) NULL ALMS1 7840 genome.wustl.edu 37 2 73675941 73675941 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015120.4 +1 reviewed p.S762A 0.000 566 0% 524 30.7% 0 - possibly_damaging(0.882) deleterious(0.04) deleterious(0.694) NULL ALMS1 7840 genome.wustl.edu 37 2 73676993 73676993 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015120.4 +1 reviewed p.E1112D 0.000 464 0% 426 32.6% 0 - benign(0) tolerated(0.59) neutral(0.004) NULL ALMS1 7840 genome.wustl.edu 37 2 73680437 73680437 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015120.4 +1 reviewed p.E2260D 0.992 106 0% 78 38.5% 2 50% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL ALMS1 7840 genome.wustl.edu 37 2 73784461 73784461 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015120.4 +1 reviewed p.S3397Y 0.001 299 0% 269 27.1% 1 100% possibly_damaging(0.776) deleterious(0) deleterious(0.734) NULL ALMS1 7840 genome.wustl.edu 37 2 73828398 73828398 + Silent SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015120.4 +1 reviewed p.P3982 0.992 118 0% 100 30% 8 75% - - - NULL DCTN1 1639 genome.wustl.edu 37 2 74601454 74601454 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004082.3 -1 reviewed p.R143Q 1.000 91 1.1% 75 34.7% 0 - possibly_damaging(0.781) tolerated(0.48) neutral(0.303) NULL DQX1 165545 genome.wustl.edu 37 2 74746774 74746774 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133637.2 -1 validated p.R572Q 0.928 145 0% 148 36.5% 0 - benign(0.066) deleterious(0.03) neutral(0.369) HMMPfam_DUF1605 C2orf65 130951 genome.wustl.edu 37 2 74802591 74802591 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138804.3 -1 predicted p.F350V 1.000 335 0% 297 30.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SEMA4F 10505 genome.wustl.edu 37 2 74883687 74883687 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004263.3 +1 provisional p.A58T 0.003 185 0% 135 39.3% 1 100% benign(0.006) tolerated(1) - superfamily_Sema domain SEMA4F 10505 genome.wustl.edu 37 2 74900866 74900866 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004263.3 +1 provisional p.D245N 0.968 107 0% 97 23.7% 0 - benign(0.05) deleterious(0.01) neutral(0.409) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA4F 10505 genome.wustl.edu 37 2 74902371 74902371 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004263.3 +1 provisional p.H411R 1.000 128 0% 142 32.4% 1 0% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain TACR1 6869 genome.wustl.edu 37 2 75278512 75278512 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001058.3 -1 reviewed p.I266 1.000 81 0% 86 41.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TACR1 6869 genome.wustl.edu 37 2 75425860 75425860 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001058.3 -1 reviewed p.T67 0.999 90 0% 89 21.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM176A 84141 genome.wustl.edu 37 2 75745244 75745244 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135032.1 -1 validated p.S8N 0.001 144 0% 119 27.7% 41 26.8% benign(0) tolerated(0.28) neutral(0.032) NULL GCFC2 6936 genome.wustl.edu 37 2 75929471 75929471 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003203.4 -1 validated p.S158Y 1.000 164 0.6% 186 28.5% 11 9% probably_damaging(0.965) deleterious(0.03) deleterious(0.771) NULL LRRTM4 80059 genome.wustl.edu 37 2 77746874 77746874 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134745.1 -1 validated p.D41N 1.000 103 0% 122 35.2% 0 - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) superfamily_L domain-like MAT2A 4144 genome.wustl.edu 37 2 85768848 85768848 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005911.4 +1 validated p.D129Y 1.000 68 0% 64 31.2% 37 62.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_S-AdoMet_synt_M,superfamily_S-adenosylmethionine synthetase GGCX 2677 genome.wustl.edu 37 2 85781371 85781371 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000821.4 -1 reviewed p.L262I 0.998 202 0% 160 26.3% 18 44.4% benign(0.176) tolerated(0.24) neutral(0.053) HMMPfam_VKG_Carbox,HMMSmart_HTTM USP39 10713 genome.wustl.edu 37 2 85857895 85857895 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006590.2 +1 validated p.Y259H 1.000 162 0% 176 30.1% 34 47% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_UCH,superfamily_Cysteine proteinases USP39 10713 genome.wustl.edu 37 2 85872076 85872076 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006590.2 +1 validated p.V478A 1.000 93 0% 75 29.3% 66 40.9% possibly_damaging(0.795) deleterious(0.01) deleterious(0.704) HMMPfam_UCH,superfamily_Cysteine proteinases POLR1A 25885 genome.wustl.edu 37 2 86315739 86315739 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015425.3 -1 validated p.F227S 0.010 107 0% 88 27.3% 2 0% benign(0) tolerated(0.37) neutral(0.019) superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase PTCD3 55037 genome.wustl.edu 37 2 86357833 86357833 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017952.5 +1 validated p.R404G 0.818 194 0% 173 27.7% 16 81.2% benign(0.069) tolerated(0.12) neutral(0.265) NULL PTCD3 55037 genome.wustl.edu 37 2 86360381 86360381 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017952.5 +1 validated e18+2 1.000 180 0% 166 33.1% 0 - - - - - IMMT 10989 genome.wustl.edu 37 2 86406557 86406557 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006839.2 -1 validated p.S103L 1.000 100 0% 121 28.1% 29 31% benign(0.019) deleterious(0.04) neutral(0.350) HMMPfam_Mitofilin IMMT 10989 genome.wustl.edu 37 2 86406637 86406637 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006839.2 -1 validated p.E76D 1.000 113 0% 128 26.6% 36 36.1% possibly_damaging(0.693) deleterious(0) deleterious(0.693) HMMPfam_Mitofilin RNF103 7844 genome.wustl.edu 37 2 86831398 86831398 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005667.2 -1 reviewed p.E542D 0.179 644 0% 548 29.7% 35 40% possibly_damaging(0.686) tolerated(0.9) neutral(0.245) NULL RNF103 7844 genome.wustl.edu 37 2 86832111 86832111 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005667.2 -1 reviewed p.E305K 1.000 298 0% 263 31.9% 13 46.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RMND5A 64795 genome.wustl.edu 37 2 87000524 87000524 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022780.3 +1 validated p.I389T 1.000 111 0% 87 21.8% 18 61.1% probably_damaging(0.969) deleterious(0) deleterious(0.856) superfamily_RING/U-box CD8A 925 genome.wustl.edu 37 2 87017470 87017470 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001768.6 -1 reviewed p.F128 0.582 38 0% 28 28.6% 5 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin CD8A 925 genome.wustl.edu 37 2 87017745 87017745 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001768.6 -1 reviewed p.E37K 0.000 33 0% 22 18.2% 9 0% benign(0.04) tolerated(0.34) neutral(0.025) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CD8B 926 genome.wustl.edu 37 2 87049482 87049482 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172101.3 -1 reviewed p.P212 0.000 180 0% 145 28.3% 1 0% - - - NULL LOC440871 440871 genome.wustl.edu 37 2 87565660 87565660 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001719095.2 +1 model p.F9 0.000 259 0% 245 24.5% 0 - - - - NULL LOC440871 440871 genome.wustl.edu 37 2 87565921 87565921 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001719095.2 +1 model p.R38I 0.126 213 0% 183 14.2% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin KRCC1 51315 genome.wustl.edu 37 2 88327448 88327448 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016618.1 -1 provisional p.E212A 0.963 306 0% 294 25.9% 15 40% benign(0.001) tolerated(0.09) neutral(0.296) NULL THNSL2 55258 genome.wustl.edu 37 2 88478438 88478438 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018271.3 +1 validated p.F236L 1.000 297 0% 214 28.5% 3 0% benign(0.195) tolerated(0.05) neutral(0.364) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes C2orf51 200523 genome.wustl.edu 37 2 88828705 88828705 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152670.2 +1 validated p.F86V 1.000 195 0% 204 32.8% 0 - possibly_damaging(0.919) deleterious(0) deleterious(0.814) NULL ANKRD36BP2 645784 genome.wustl.edu 37 2 89084256 89084256 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_015424.1 +1 predicted NULL 0.040 145 0% 89 31.5% 0 - - - - - IGKJ5 28946 genome.wustl.edu 37 2 89160094 89160094 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390238 -1 known p.T8 0.000 142 0% 122 32.8% 68 0% unknown(0) - - NULL IGKV3-11 28914 genome.wustl.edu 37 2 89326809 89326809 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000483158 -1 known p.I68 0.038 288 0% 283 32.9% 53 0% - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGKV1D-33 28896 genome.wustl.edu 37 2 89953268 89953268 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390265 +1 known p.G88 0.965 246 0% 252 14.3% 12 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin LOC344065 344065 genome.wustl.edu 37 2 95880418 95880418 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_292895.7 +1 model p.E228D 0.838 37 0% 40 22.5% 0 - - - - superfamily_C2H2 and C2HC zinc fingers PROM2 150696 genome.wustl.edu 37 2 95950849 95950849 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144707.2 +1 reviewed p.D621N 0.017 19 0% 10 40% 18 38.8% benign(0.025) tolerated(0.27) neutral(0.035) HMMPfam_Prominin LOC400986 400986 genome.wustl.edu 37 2 96593132 96593132 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001717763.2 -1 model p.E306 0.016 184 0% 193 20.2% 0 - - - - NULL ADRA2B 151 genome.wustl.edu 37 2 96780785 96780785 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000409345 -1 known p.F368 0.635 33 0% 21 33.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ADRA2B 151 genome.wustl.edu 37 2 96781109 96781109 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000409345 -1 known p.E260 0.009 36 0% 20 30% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ASTL 431705 genome.wustl.edu 37 2 96789646 96789646 + Silent SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002036.3 -1 validated p.P413 0.931 57 0% 62 33.9% 0 - - - - NULL ASTL 431705 genome.wustl.edu 37 2 96795653 96795653 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002036.3 -1 validated p.G262S 1.000 77 0% 96 29.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Astacin,superfamily_Metalloproteases (""zincins"") catalytic domain" ASTL 431705 genome.wustl.edu 37 2 96799277 96799277 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002036.3 -1 validated p.E114 0.982 56 0% 57 15.8% 0 - - - - "HMMPfam_Astacin,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" SNRNP200 23020 genome.wustl.edu 37 2 96969062 96969062 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014014.3 -1 reviewed p.R72S 1.000 343 0% 321 29.9% 14 42.8% possibly_damaging(0.607) tolerated(0.18) neutral(0.267) NULL ITPRIPL1 150771 genome.wustl.edu 37 2 96992640 96992640 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178495.5 +1 validated p.D99Y 0.174 120 0% 121 42.1% 0 - possibly_damaging(0.824) deleterious(0.01) deleterious(0.718) NULL FER1L5 90342 genome.wustl.edu 37 2 97370056 97370056 + Missense_Mutation SNP C C T rs187999544 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113382.1 +1 provisional p.S2005L 0.000 94 0% 103 25.2% 0 - benign(0) tolerated(1) - NULL CNNM3 26505 genome.wustl.edu 37 2 97492678 97492678 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017623.4 +1 validated p.S493L 0.999 118 0% 107 38.3% 15 20% benign(0.08) deleterious(0) neutral(0.450) NULL ANKRD36 375248 genome.wustl.edu 37 2 97853084 97853084 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000461153 +1 known p.D697Y 0.017 55 0% 54 25.9% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ANKRD36 375248 genome.wustl.edu 37 2 97871818 97871818 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000461153 +1 known p.D867Y 0.004 16 0% 23 30.4% 0 - possibly_damaging(0.538) deleterious(0) deleterious(0.627) NULL ANKRD36 375248 genome.wustl.edu 37 2 97911336 97911336 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000461153 +1 known p.S1474Y 0.018 165 0% 150 25.3% 0 - benign(0.113) tolerated(0.06) neutral(0.332) NULL TMEM131 23505 genome.wustl.edu 37 2 98431735 98431735 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015348.1 -1 validated p.K407Q 1.000 115 0% 83 36.1% 6 83.3% probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL VWA3B 200403 genome.wustl.edu 37 2 98797510 98797510 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000416277 +1 known p.R407Q 0.008 162 0.6% 109 25.7% 0 - unknown(0) - - NULL VWA3B 200403 genome.wustl.edu 37 2 98828447 98828447 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144992.4 +1 provisional p.E598* 0.998 93 0% 73 35.6% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like VWA3B 200403 genome.wustl.edu 37 2 98887319 98887319 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144992.4 +1 provisional p.K1006N 0.999 181 0% 180 29.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CNGA3 1261 genome.wustl.edu 37 2 98996717 98996717 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001298.2 +1 reviewed p.P99T 1.000 40 0% 32 28.1% 0 - benign(0.131) deleterious(0.02) neutral(0.394) NULL CNGA3 1261 genome.wustl.edu 37 2 99012564 99012564 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001298.2 +1 reviewed p.L311I 1.000 139 0% 162 11.7% 0 - possibly_damaging(0.493) tolerated(0.12) neutral(0.425) HMMPfam_Ion_trans,superfamily_SSF81324 CNGA3 1261 genome.wustl.edu 37 2 99012779 99012779 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001298.2 +1 reviewed p.V382 0.021 101 0% 105 33.3% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 INPP4A 3631 genome.wustl.edu 37 2 99162480 99162480 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134224.1 +1 reviewed p.F333C 1.000 32 0% 22 18.2% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UNC50 25972 genome.wustl.edu 37 2 99232737 99232737 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014044.5 +1 validated p.F157V 1.000 279 0% 245 35.5% 63 46% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_UNC-50 TSGA10 80705 genome.wustl.edu 37 2 99695153 99695153 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025244.2 -1 validated p.I284S 1.000 109 0% 79 24.1% 1 0% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL TSGA10 80705 genome.wustl.edu 37 2 99695167 99695167 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025244.2 -1 validated p.K279N 1.000 114 0% 81 46.9% 1 100% benign(0.315) deleterious(0.02) deleterious(0.482) NULL EIF5B 9669 genome.wustl.edu 37 2 99980137 99980137 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015904.3 +1 reviewed p.D317Y 1.000 189 0% 160 34.4% 50 40% benign(0.113) deleterious(0.02) neutral(0.392) NULL REV1 51455 genome.wustl.edu 37 2 100065942 100065942 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016316.2 -1 reviewed p.K69T 1.000 157 0% 93 34.4% 7 71.4% benign(0.086) deleterious(0.02) neutral(0.390) HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain NPAS2 4862 genome.wustl.edu 37 2 101565837 101565837 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002518.3 +1 reviewed p.D165N 1.000 71 0% 51 21.6% 1 0% possibly_damaging(0.822) deleterious(0.01) deleterious(0.717) NULL NPAS2 4862 genome.wustl.edu 37 2 101581341 101581341 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002518.3 +1 reviewed p.E246K 1.000 91 0% 87 42.5% 4 25% possibly_damaging(0.946) deleterious(0.04) deleterious(0.739) HMMSmart_PAS TBC1D8 11138 genome.wustl.edu 37 2 101624620 101624620 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102426.1 -1 validated p.E1029G 1.000 40 0% 52 32.7% 8 25% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL TBC1D8 11138 genome.wustl.edu 37 2 101624732 101624732 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102426.1 -1 validated p.E992* 1.000 27 0% 33 18.2% 13 7.6% - - - NULL TBC1D8 11138 genome.wustl.edu 37 2 101666932 101666932 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102426.1 -1 validated p.R253Q 0.997 43 0% 40 32.5% 9 44.4% probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL C2orf29 55571 genome.wustl.edu 37 2 101874291 101874291 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017546.4 +1 validated p.L185I 1.000 235 0% 231 24.7% 22 54.5% benign(0.05) tolerated(0.25) neutral(0.040) NULL IL18R1 8809 genome.wustl.edu 37 2 102992424 102992424 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003855.2 +1 reviewed p.E176K 0.076 144 0% 124 41.9% 1 0% benign(0.091) tolerated(0.39) neutral(0.022) superfamily_SSF48726 IL18RAP 8807 genome.wustl.edu 37 2 103063584 103063584 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003853.2 +1 reviewed p.A376V 0.000 331 0.3% 294 29.9% 0 - benign(0) tolerated(1) - NULL SLC9A2 6549 genome.wustl.edu 37 2 103324601 103324601 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003048.3 +1 validated p.A698T 0.000 309 0% 206 26.2% 1 0% benign(0) tolerated(0.46) neutral(0.012) NULL MRPS9 64965 genome.wustl.edu 37 2 105687916 105687916 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182640.2 +1 reviewed e4-1 1.000 183 0% 155 35.5% 0 - - - - - GPR45 11250 genome.wustl.edu 37 2 105859134 105859134 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007227.3 +1 reviewed p.F273 0.982 276 0.7% 222 31.5% 2 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like C2orf40 84417 genome.wustl.edu 37 2 106688349 106688349 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032411.2 +1 validated e2+2 1.000 81 0% 47 38.3% 0 - - - - - C2orf40 84417 genome.wustl.edu 37 2 106690392 106690392 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032411.2 +1 validated p.E60* 0.710 183 0% 129 31.8% 0 - - - - NULL ENSG00000169659 0 genome.wustl.edu 37 2 107002858 107002858 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000324709 +1 known p.E58* 0.077 661 0% 559 29.7% 0 - - - - HMMPfam_PAN_1,HMMSmart_PAN_AP,superfamily_SSF57414 RGPD3 653489 genome.wustl.edu 37 2 107040243 107040243 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144013.1 -1 validated p.R1394C 0.930 1059 0.2% 926 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RGPD3 653489 genome.wustl.edu 37 2 107040579 107040579 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144013.1 -1 validated p.L1282I 0.979 894 0% 753 29.1% 0 - probably_damaging(0.998) tolerated(0.45) deleterious(0.486) NULL RGPD3 653489 genome.wustl.edu 37 2 107049414 107049414 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144013.1 -1 validated p.R816C 1.000 392 2.3% 430 20.9% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL RGPD3 653489 genome.wustl.edu 37 2 107049644 107049644 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144013.1 -1 validated p.S768Y 0.281 843 0% 791 17.4% 0 - possibly_damaging(0.928) deleterious(0.03) deleterious(0.740) NULL RGPD3 653489 genome.wustl.edu 37 2 107064045 107064045 + Silent SNP C C T rs2556188 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144013.1 -1 validated p.A269 1.000 643 0% 550 9.5% 0 - - - - superfamily_SSF48452 RGPD3 653489 genome.wustl.edu 37 2 107069174 107069174 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144013.1 -1 validated p.S205L 0.946 684 0% 688 14.1% 0 - possibly_damaging(0.484) tolerated(0.36) neutral(0.180) superfamily_SSF48452 ST6GAL2 84620 genome.wustl.edu 37 2 107450546 107450546 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142351.1 -1 validated p.D334Y 1.000 217 0% 133 27.1% 2 0% probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_Glyco_transf_29,superfamily_Glycoside hydrolase/deacetylase ST6GAL2 84620 genome.wustl.edu 37 2 107459863 107459863 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142351.1 -1 validated p.D191N 0.117 68 0% 54 31.5% 1 0% benign(0.174) tolerated(0.09) neutral(0.312) NULL RGPD4 285190 genome.wustl.edu 37 2 108475841 108475841 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182588.2 +1 validated p.L489I 1.000 367 0% 402 23.4% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL RGPD4 285190 genome.wustl.edu 37 2 108477333 108477333 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182588.2 +1 validated p.P624S 1.000 379 0% 399 20.3% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL RGPD4 285190 genome.wustl.edu 37 2 108478154 108478154 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182588.2 +1 validated p.K721N 1.000 471 0% 442 25.3% 0 - probably_damaging(0.958) tolerated(0.34) neutral(0.425) NULL RGPD4 285190 genome.wustl.edu 37 2 108499260 108499260 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182588.2 +1 validated p.L1733I 1.000 413 0% 316 22.2% 1 0% possibly_damaging(0.875) deleterious(0) deleterious(0.784) HMMPfam_GRIP,HMMSmart_Grip RGPD4 285190 genome.wustl.edu 37 2 108499318 108499318 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182588.2 +1 validated p.A1752V 1.000 419 0% 354 19.5% 2 0% possibly_damaging(0.93) deleterious(0) deleterious(0.821) HMMSmart_Grip SLC5A7 60482 genome.wustl.edu 37 2 108624944 108624944 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021815.2 +1 provisional p.L307F 0.000 80 0% 91 35.2% 0 - benign(0) tolerated(0.7) neutral(0.002) HMMPfam_SSF SLC5A7 60482 genome.wustl.edu 37 2 108626705 108626705 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021815.2 +1 provisional p.I377 0.184 107 0% 115 35.7% 0 - - - - HMMPfam_SSF SULT1C3 442038 genome.wustl.edu 37 2 108869811 108869811 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008743.1 +1 provisional p.F104 0.000 274 0% 247 34.4% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases RANBP2 5903 genome.wustl.edu 37 2 109357091 109357091 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006267.4 +1 reviewed p.R310Q 1.000 592 0% 562 30.2% 3 66.6% unknown(0) - - NULL RANBP2 5903 genome.wustl.edu 37 2 109367738 109367738 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006267.4 +1 reviewed p.N431T 0.989 324 0% 257 26.8% 1 0% unknown(0) - - NULL RANBP2 5903 genome.wustl.edu 37 2 109381388 109381388 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006267.4 +1 reviewed p.P1465S 0.998 146 0% 125 22.4% 6 16.6% benign(0) - - NULL RANBP2 5903 genome.wustl.edu 37 2 109384100 109384100 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006267.4 +1 reviewed p.R2369C 1.000 988 0.1% 830 23.4% 4 100% probably_damaging(1) - - HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RANBP2 5903 genome.wustl.edu 37 2 109397730 109397730 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006267.4 +1 reviewed p.N2869H 1.000 98 0% 78 32.1% 51 35.2% probably_damaging(0.964) - - NULL RANBP2 5903 genome.wustl.edu 37 2 109398594 109398594 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006267.4 +1 reviewed p.K2924T 1.000 106 0% 80 26.3% 36 33.3% benign(0.231) - - HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 SH3RF3 344558 genome.wustl.edu 37 2 110259140 110259140 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000444352 +1 known p.R21* 0.033 28 0% 14 28.6% 2 0% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain SOWAHC 65124 genome.wustl.edu 37 2 110373224 110373224 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023016.3 +1 validated p.I386 0.806 30 0% 23 47.8% 2 0% - - - NULL NPHP1 4867 genome.wustl.edu 37 2 110922275 110922275 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000272.3 -1 reviewed p.A254V 0.998 437 0% 387 31.8% 4 25% possibly_damaging(0.905) tolerated(0.21) neutral(0.403) NULL NPHP1 4867 genome.wustl.edu 37 2 110936074 110936074 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000272.3 -1 reviewed p.E85 0.380 212 0% 162 23.5% 2 0% - - - NULL BCL2L11 10018 genome.wustl.edu 37 2 111881326 111881326 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138621.3 +1 reviewed p.A2T 1.000 78 0% 59 32.2% 3 66.6% possibly_damaging(0.509) deleterious(0) deleterious(0.615) NULL ANAPC1 64682 genome.wustl.edu 37 2 112536282 112536282 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022662.2 -1 validated p.E1785D 1.000 187 0% 139 28.1% 25 32% possibly_damaging(0.525) tolerated(0.42) neutral(0.191) NULL ANAPC1 64682 genome.wustl.edu 37 2 112608479 112608479 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000427997 -1 known p.G43S 0.987 139 0% 141 24.8% 4 75% - - - NULL ANAPC1 64682 genome.wustl.edu 37 2 112630246 112630246 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022662.2 -1 validated p.R191Q 1.000 133 0% 126 23% 3 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL FBLN7 129804 genome.wustl.edu 37 2 112942777 112942777 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153214.2 +1 validated e7-1 1.000 82 0% 61 13.1% 0 - - - - - MIR1302-3 100302128 genome.wustl.edu 37 2 114340629 114340629 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000408128 -1 known NULL 0.012 367 0% 316 19.6% 0 - - - - - LOC645529 645529 genome.wustl.edu 37 2 114426093 114426093 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001716670.2 -1 model p.C159 0.797 120 0% 73 34.2% 1 0% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SLC35F5 80255 genome.wustl.edu 37 2 114476741 114476741 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025181.2 -1 provisional p.R496* 1.000 178 0% 157 28.7% 31 19.3% - - - NULL ACTR3 10096 genome.wustl.edu 37 2 114699799 114699799 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005721.3 +1 reviewed p.E241* 1.000 99 0% 81 35.8% 135 1.4% - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain DPP10 57628 genome.wustl.edu 37 2 116485481 116485481 + Silent SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020868.3 +1 validated p.I222 1.000 80 0% 46 32.6% 2 100% - - - HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP10 57628 genome.wustl.edu 37 2 116538522 116538522 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020868.3 +1 validated p.F478 0.995 132 0% 137 28.5% 4 25% - - - HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP10 57628 genome.wustl.edu 37 2 116548691 116548691 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020868.3 +1 validated p.K522N 0.921 100 0% 73 31.5% 4 75% possibly_damaging(0.725) tolerated(0.14) deleterious(0.513) superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP10 57628 genome.wustl.edu 37 2 116594295 116594295 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020868.3 +1 validated p.I719V 0.919 289 0% 177 29.9% 1 0% benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases MARCO 8685 genome.wustl.edu 37 2 119750794 119750794 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006770.3 +1 reviewed p.D449 0.004 112 0% 121 27.3% 23 0% - - - HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like C2orf76 130355 genome.wustl.edu 37 2 120097548 120097548 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017927.2 -1 predicted e1-1 0.965 167 0% 183 35.5% 0 - - - - - ENSG00000163075 0 genome.wustl.edu 37 2 120385233 120385233 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000443972 +1 known p.R66Q 0.000 352 0% 254 36.2% 1 0% - - - NULL GLI2 2736 genome.wustl.edu 37 2 121742087 121742087 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005270.4 +1 reviewed p.Y575C 1.000 284 0% 227 12.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GLI2 2736 genome.wustl.edu 37 2 121748150 121748150 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005270.4 +1 reviewed p.P1554S 1.000 167 0.6% 98 35.7% 2 0% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL TFCP2L1 29842 genome.wustl.edu 37 2 121997185 121997185 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014553.2 -1 validated p.A270V 0.813 25 0% 21 33.3% 5 20% benign(0) tolerated(0.33) neutral(0.024) NULL CLASP1 23332 genome.wustl.edu 37 2 122227474 122227474 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015282.2 -1 validated p.S259A 0.998 149 0% 119 24.4% 0 - benign(0.375) tolerated(0.81) neutral(0.120) superfamily_ARM repeat CNTNAP5 129684 genome.wustl.edu 37 2 125175089 125175089 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130773.2 +1 reviewed p.F151I 0.959 116 0% 103 39.8% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_F5_F8_type_C,HMMSmart_FA58C,superfamily_Gal_bind_like CNTNAP5 129684 genome.wustl.edu 37 2 125232366 125232366 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130773.2 +1 reviewed p.K323N 1.000 57 0% 38 21.1% 0 - benign(0.008) tolerated(0.08) neutral(0.300) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 CNTNAP5 129684 genome.wustl.edu 37 2 125530596 125530596 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130773.2 +1 reviewed e17+2 1.000 178 0% 144 28.5% 0 - - - - - CNTNAP5 129684 genome.wustl.edu 37 2 125669082 125669082 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130773.2 +1 reviewed p.N1231D 1.000 47 0% 43 14% 0 - benign(0.037) tolerated(0.29) neutral(0.031) NULL CYP27C1 339761 genome.wustl.edu 37 2 127956960 127956960 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001665.3 -1 reviewed p.V182I 0.978 42 0% 42 19% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 ERCC3 2071 genome.wustl.edu 37 2 128028923 128028923 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000122.1 -1 reviewed p.R645Q 1.000 498 0% 429 28.7% 31 32.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases MAP3K2 10746 genome.wustl.edu 37 2 128075281 128075281 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006609.3 -1 reviewed p.R417Q 1.000 30 0% 41 22% 8 25% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAP3K2 10746 genome.wustl.edu 37 2 128079684 128079684 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006609.3 -1 reviewed p.R328I 1.000 107 0% 76 18.4% 12 33.3% benign(0.046) tolerated(0.33) neutral(0.026) NULL IWS1 55677 genome.wustl.edu 37 2 128263229 128263229 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017969.2 -1 validated p.S84R 1.000 250 0% 308 34.1% 18 38.8% benign(0.132) deleterious(0.04) neutral(0.360) NULL MYO7B 4648 genome.wustl.edu 37 2 128335788 128335788 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080527.1 +1 provisional p.F310 1.000 23 0% 25 36% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases WDR33 55339 genome.wustl.edu 37 2 128522458 128522458 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018383.3 -1 reviewed p.S190 1.000 234 0% 202 37.6% 34 50% - - - superfamily_WD40_like SAP130 79595 genome.wustl.edu 37 2 128707919 128707919 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024545.3 -1 validated p.S820F 1.000 575 0% 631 35.5% 36 52.7% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) NULL SAP130 79595 genome.wustl.edu 37 2 128772379 128772379 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024545.3 -1 validated p.R232Q 1.000 58 0% 57 22.8% 15 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RAB6C 84084 genome.wustl.edu 37 2 130738190 130738190 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032144.2 +1 validated p.R168* 1.000 743 0% 783 22.6% 1 0% - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 RAB6C 84084 genome.wustl.edu 37 2 130738443 130738443 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032144.2 +1 validated p.S252L 0.872 564 0% 523 29.6% 0 - benign(0.021) deleterious(0) neutral(0.446) NULL TUBA3E 112714 genome.wustl.edu 37 2 130953809 130953809 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207312.2 -1 validated p.D47N 1.000 79 0% 85 20% 0 - possibly_damaging(0.566) deleterious(0) deleterious(0.638) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ TUBA3E 112714 genome.wustl.edu 37 2 130953816 130953816 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207312.2 -1 validated p.G44 0.999 85 0% 84 40.5% 0 - - - - HMMPfam_Tubulin,superfamily_Tubulin_FtsZ LOC653269 653269 genome.wustl.edu 37 2 131221415 131221415 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_928585.2 -1 model p.I734 1.000 46 0% 52 26.9% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ARHGEF4 50649 genome.wustl.edu 37 2 131785611 131785611 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015320.2 +1 reviewed p.H174P 1.000 23 0% 28 25% 1 0% benign(0.003) tolerated(0.24) neutral(0.037) superfamily_SH3-domain ARHGEF4 50649 genome.wustl.edu 37 2 131798809 131798809 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015320.2 +1 reviewed p.D371N 0.878 61 0% 23 17.4% 7 71.4% benign(0.004) tolerated(0.16) neutral(0.059) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ARHGEF4 50649 genome.wustl.edu 37 2 131799476 131799476 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015320.2 +1 reviewed p.D476N 0.998 36 0% 15 33.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_DBL homology domain (DH-domain),superfamily_PH domain-like POTEE 445582 genome.wustl.edu 37 2 131984472 131984472 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083538.1 +1 validated p.A296V 0.013 341 0% 314 14.3% 0 - possibly_damaging(0.753) deleterious(0) deleterious(0.721) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat POTEE 445582 genome.wustl.edu 37 2 132021753 132021753 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083538.1 +1 validated p.V909M 1.000 181 0% 216 13.9% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain LOC150786 150786 genome.wustl.edu 37 2 132121126 132121126 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077637.1 -1 validated p.Y56* 0.998 817 0.1% 892 18.5% 0 - - - - HMMSmart_RAB,HMMPfam_Ras,PatternScan_BACTERIAL_OPSIN_RET,superfamily_SSF52540 LOC150786 150786 genome.wustl.edu 37 2 132121177 132121177 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077637.1 -1 validated p.D39E 1.000 643 0% 684 16.7% 0 - - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 ANKRD30BL 554226 genome.wustl.edu 37 2 132914606 132914606 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000409867 -1 known p.E149D 0.308 63 0% 48 22.9% 0 - benign(0.012) tolerated(0.15) neutral(0.241) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ZNF806 646915 genome.wustl.edu 37 2 133075043 133075043 + Silent SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001724242.2 +1 model p.I168 0.038 247 0% 203 15.3% 0 - - - - NULL NCKAP5 344148 genome.wustl.edu 37 2 133541680 133541680 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207363.2 -1 validated p.E902* 0.005 106 0.9% 124 25.8% 2 50% - - - NULL TMEM163 81615 genome.wustl.edu 37 2 135223793 135223793 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030923.4 -1 validated p.D187N 0.998 27 0% 43 30.2% 5 0% possibly_damaging(0.477) tolerated(0.32) neutral(0.181) NULL ACMSD 130013 genome.wustl.edu 37 2 135616903 135616903 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138326.2 +1 validated p.R59C 0.997 137 0% 107 28% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidohydro_2,superfamily_Metallo-dependent hydrolases CCNT2 905 genome.wustl.edu 37 2 135711965 135711965 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_058241.1 +1 reviewed p.S647Y 1.000 281 0% 235 32.3% 5 40% possibly_damaging(0.922) tolerated(0.59) neutral(0.376) NULL YSK4 80122 genome.wustl.edu 37 2 135738803 135738803 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025052.3 -1 validated p.I1170L 1.000 340 0% 317 31.2% 0 - possibly_damaging(0.495) tolerated(0.1) neutral(0.452) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase YSK4 80122 genome.wustl.edu 37 2 135739044 135739044 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025052.3 -1 validated p.K1089 0.998 270 0.4% 255 29.8% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase YSK4 80122 genome.wustl.edu 37 2 135744337 135744337 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025052.3 -1 validated p.R702Q 0.304 245 0% 229 32.3% 0 - benign(0.301) tolerated(0.42) neutral(0.107) NULL YSK4 80122 genome.wustl.edu 37 2 135744570 135744570 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025052.3 -1 validated p.Q624H 0.598 309 0% 305 34.8% 0 - benign(0.063) deleterious(0) neutral(0.449) NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135883788 135883788 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012233.2 +1 reviewed p.E290K 1.000 116 0% 84 21.4% 4 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ZRANB3 84083 genome.wustl.edu 37 2 135960485 135960485 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032143.2 -1 provisional p.D1020Y 1.000 37 0% 35 45.7% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HNH,HMMSmart_SM00507 ZRANB3 84083 genome.wustl.edu 37 2 136033273 136033273 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032143.2 -1 provisional p.K340T 1.000 75 0% 51 23.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases ZRANB3 84083 genome.wustl.edu 37 2 136261910 136261910 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032143.2 -1 provisional p.K50 0.928 218 0% 161 34.8% 0 - - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases R3HDM1 23518 genome.wustl.edu 37 2 136362506 136362506 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015361.2 +1 provisional p.N31H 1.000 48 0% 51 27.5% 4 75% possibly_damaging(0.887) deleterious(0.01) deleterious(0.752) NULL R3HDM1 23518 genome.wustl.edu 37 2 136374262 136374262 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015361.2 +1 provisional p.R80W 1.000 27 0% 32 31.2% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LCT 3938 genome.wustl.edu 37 2 136564921 136564921 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002299.2 -1 reviewed p.S1317Y 1.000 128 0% 124 29% 0 - possibly_damaging(0.901) deleterious(0) deleterious(0.801) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136566592 136566592 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002299.2 -1 reviewed p.D1109N 0.987 107 0% 91 33% 0 - benign(0.183) tolerated(0.41) neutral(0.032) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat MCM6 4175 genome.wustl.edu 37 2 136627860 136627860 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005915.4 -1 reviewed p.D109A 1.000 349 0% 333 13.5% 28 21.4% possibly_damaging(0.5) tolerated(0.34) neutral(0.190) superfamily_Nucleic acid-binding proteins DARS 1615 genome.wustl.edu 37 2 136678081 136678081 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001349.2 -1 validated p.E301K 1.000 95 0% 72 37.5% 125 44.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases THSD7B 80731 genome.wustl.edu 37 2 138208468 138208468 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080427.1 +1 provisional p.D974N 1.000 135 0% 95 24.2% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat THSD7B 80731 genome.wustl.edu 37 2 138208550 138208550 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080427.1 +1 provisional p.Y1001C 1.000 72 0% 59 27.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat HNMT 3176 genome.wustl.edu 37 2 138762705 138762705 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006895.2 +1 reviewed p.L145 1.000 481 0% 389 35.2% 26 0% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases LOC440917 440917 genome.wustl.edu 37 2 139045434 139045434 + RNA SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_041289.2 -1 model NULL 0.963 31 0% 53 26.4% 1 100% - - - - LOC440917 440917 genome.wustl.edu 37 2 139045705 139045705 + RNA SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_041289.2 -1 model NULL 0.999 245 0% 301 31.6% 0 - - - - - SPOPL 339745 genome.wustl.edu 37 2 139318379 139318379 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001664.2 +1 validated p.R240Q 1.000 110 0% 74 28.4% 5 40% benign(0.002) deleterious(0.03) neutral(0.364) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB LRP1B 53353 genome.wustl.edu 37 2 141110559 141110559 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.Q3871H 1.000 337 0% 240 22.9% 0 - benign(0.313) tolerated(0.1) neutral(0.384) HMMSmart_EGF_CA,HMMPfam_EGF_CA,superfamily_SSF57196 LRP1B 53353 genome.wustl.edu 37 2 141130591 141130591 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.K3585R 1.000 237 0% 170 37.1% 0 - benign(0.002) tolerated(0.6) neutral(0.004) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141130598 141130598 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.D3583Y 1.000 231 0% 175 24.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141200149 141200149 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.T3446 0.966 155 0% 184 26.1% 0 - - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141272325 141272325 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.W2722C 1.000 110 0% 75 37.3% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141359172 141359172 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.A2279V 1.000 66 0% 70 15.7% 0 - probably_damaging(0.958) tolerated(0.33) neutral(0.426) HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141459810 141459810 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.D2068N 1.000 267 0% 214 28.5% 0 - benign(0.018) tolerated(0.82) neutral(0.001) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141474326 141474326 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.D1940Y 1.000 379 0% 327 11% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141607884 141607884 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.L1576I 1.000 103 0% 98 11.2% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_SSF57196,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141625828 141625828 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.L1392I 1.000 94 0% 67 22.4% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141641457 141641457 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.G1366 0.995 132 0% 114 33.3% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141707850 141707850 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.D1030 1.000 103 0% 95 22.1% 0 - - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141806648 141806648 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.E566K 1.000 365 0% 234 35% 0 - probably_damaging(0.998) tolerated(0.3) deleterious(0.503) HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141816552 141816552 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018557.2 -1 validated p.I436 0.922 188 0% 121 16.5% 0 - - - - HMMSmart_LY,superfamily_SSF63825 KYNU 8942 genome.wustl.edu 37 2 143798011 143798011 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003937.2 +1 reviewed p.A352 0.989 188 0% 143 31.5% 7 0% - - - HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases ARHGAP15 55843 genome.wustl.edu 37 2 144244977 144244977 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018460.3 +1 validated p.D247N 1.000 311 0% 225 27.1% 3 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ZEB2 9839 genome.wustl.edu 37 2 145147546 145147546 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014795.3 -1 reviewed p.K1039N 1.000 71 0% 70 31.4% 10 0% possibly_damaging(0.662) deleterious(0) deleterious(0.678) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZEB2 9839 genome.wustl.edu 37 2 145157256 145157256 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014795.3 -1 reviewed p.E500K 1.000 186 0% 196 24% 2 0% possibly_damaging(0.604) deleterious(0.05) deleterious(0.555) NULL ACVR2A 92 genome.wustl.edu 37 2 148676061 148676061 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001616.3 +1 reviewed p.E288* 1.000 148 0% 103 24.3% 2 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ORC4 5000 genome.wustl.edu 37 2 148695750 148695750 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002552.2 -1 reviewed p.S363A 1.000 94 0% 72 37.5% 39 71.7% benign(0.108) tolerated(0.15) neutral(0.249) NULL MBD5 55777 genome.wustl.edu 37 2 149226464 149226464 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018328.4 +1 reviewed p.S318P 1.000 134 0% 127 40.2% 1 0% possibly_damaging(0.741) tolerated(0.15) deleterious(0.512) NULL MBD5 55777 genome.wustl.edu 37 2 149227503 149227503 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000416015 +1 known p.R404* 1.000 143 0% 112 23.2% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MBD5 55777 genome.wustl.edu 37 2 149240744 149240744 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018328.4 +1 reviewed p.T862A 1.000 233 0% 278 32% 2 50% unknown(0) tolerated(0.24) - NULL LYPD6B 130576 genome.wustl.edu 37 2 150064911 150064911 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177964.3 +1 provisional p.K105E 0.996 110 0% 93 22.6% 12 75% possibly_damaging(0.786) tolerated(0.13) deleterious(0.547) HMMSmart_LU,superfamily_SSF57302 RBM43 375287 genome.wustl.edu 37 2 152107541 152107541 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198557.2 -1 validated p.S318L 0.000 343 0% 311 31.8% 0 - benign(0.004) tolerated(0.36) neutral(0.020) NULL TNFAIP6 7130 genome.wustl.edu 37 2 152226654 152226654 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007115.2 +1 reviewed p.R172H 0.990 248 0% 211 35.5% 21 0% probably_damaging(0.982) tolerated(0.07) deleterious(0.746) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain RIF1 55183 genome.wustl.edu 37 2 152317796 152317796 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018151.4 +1 reviewed p.T1074A 1.000 200 0% 169 29.6% 3 66.6% benign(0.013) deleterious(0.01) neutral(0.406) superfamily_ARM repeat NEB 4703 genome.wustl.edu 37 2 152352870 152352870 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004543.4 -1 reviewed p.E6280* 1.000 30 0% 25 40% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152468789 152468789 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004543.4 -1 reviewed p.R3663C 1.000 162 0% 127 29.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152486108 152486108 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004543.4 -1 reviewed p.R3016Q 0.886 156 0% 130 30% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152507274 152507274 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004543.4 -1 reviewed p.K2347 1.000 394 0% 343 16.3% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152522894 152522894 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004543.4 -1 reviewed p.E1581K 1.000 90 1.1% 91 40.7% 0 - probably_damaging(0.986) tolerated(0.36) neutral(0.455) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152566244 152566244 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004543.4 -1 reviewed p.D321Y 1.000 40 0% 27 22.2% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Nebulin GALNT13 114805 genome.wustl.edu 37 2 155099387 155099387 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052917.2 +1 validated p.E219* 1.000 50 0% 43 23.3% 0 - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GPD2 2820 genome.wustl.edu 37 2 157414015 157414015 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000408.4 +1 reviewed p.T362 0.032 119 0% 86 39.5% 7 57.1% - - - HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain GALNT5 11227 genome.wustl.edu 37 2 158157422 158157422 + Nonsense_Mutation SNP C C T rs187784514 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014568.1 +1 provisional p.R784* 1.000 95 0% 82 34.1% 0 - - - - superfamily_Nucleotide-diphospho-sugar transferases CCDC148 130940 genome.wustl.edu 37 2 159033086 159033086 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138803.3 -1 validated p.E526* 1.000 116 0% 85 30.6% 0 - - - - NULL CCDC148 130940 genome.wustl.edu 37 2 159035414 159035414 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138803.3 -1 validated p.R489W 0.970 179 0% 131 28.2% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL CCDC148 130940 genome.wustl.edu 37 2 159035440 159035440 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138803.3 -1 validated p.A480V 0.317 175 0% 125 27.2% 1 100% benign(0.001) tolerated(0.66) neutral(0.003) NULL PKP4 8502 genome.wustl.edu 37 2 159499085 159499085 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003628.3 +1 reviewed p.R595* 1.000 152 0% 150 30% 10 0% - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat PKP4 8502 genome.wustl.edu 37 2 159522976 159522976 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003628.3 +1 reviewed p.L877I 1.000 340 0% 301 35.9% 9 22.2% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat WDSUB1 151525 genome.wustl.edu 37 2 160139481 160139481 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128212.1 -1 validated p.I34L 0.071 216 0% 193 50.3% 4 0% benign(0.001) tolerated(0.16) neutral(0.059) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MARCH7 64844 genome.wustl.edu 37 2 160604691 160604691 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022826.2 +1 validated p.R297Q 1.000 115 0% 144 22.2% 11 54.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL LY75 4065 genome.wustl.edu 37 2 160661610 160661610 + Missense_Mutation SNP C C T rs34034503 byCluster;byFrequency;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002349.2 -1 validated p.R1705Q 1.000 81 0% 88 34.1% 1 0% probably_damaging(0.973) deleterious(0.04) deleterious(0.764) NULL LY75 4065 genome.wustl.edu 37 2 160746860 160746860 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002349.2 -1 validated p.K222N 0.998 154 0% 131 26% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMSmart_SM00034,superfamily_C-type lectin-like PLA2R1 22925 genome.wustl.edu 37 2 160873203 160873203 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007366.3 -1 validated p.K491N 0.983 370 0% 315 31.1% 0 - possibly_damaging(0.829) deleterious(0.05) deleterious(0.660) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ITGB6 3694 genome.wustl.edu 37 2 160968663 160968663 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000888.3 -1 provisional p.E677* 1.000 203 0% 161 29.2% 32 0% - - - HMMPfam_Integrin_B_tail,superfamily_Integrin beta tail domain TBR1 10716 genome.wustl.edu 37 2 162274306 162274306 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006593.2 +1 reviewed p.W271L 1.000 189 0% 135 23.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd FAP 2191 genome.wustl.edu 37 2 163044874 163044874 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004460.2 -1 reviewed e20-1 1.000 163 0% 156 21.8% 0 - - - - - IFIH1 64135 genome.wustl.edu 37 2 163137871 163137871 + Silent SNP C C T rs12479043 byCluster;byFrequency;by2Hit2Allele;byHapMap;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022168.2 -1 reviewed p.T497 0.002 91 0% 107 37.4% 6 33.3% - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases KCNH7 90134 genome.wustl.edu 37 2 163253366 163253366 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033272.2 -1 reviewed p.L833 1.000 143 0% 106 27.4% 0 - - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like GRB14 2888 genome.wustl.edu 37 2 165383625 165383625 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004490.2 -1 reviewed p.E168K 1.000 142 0% 115 28.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RA,HMMSmart_RA COBLL1 22837 genome.wustl.edu 37 2 165578688 165578688 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014900.3 -1 validated p.P298L 0.999 101 0% 94 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cobl SLC38A11 151258 genome.wustl.edu 37 2 165765232 165765232 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173512.1 -1 provisional p.I260S 0.131 100 1% 97 14.4% 0 - benign(0.009) tolerated(0.12) neutral(0.261) HMMPfam_Aa_trans SLC38A11 151258 genome.wustl.edu 37 2 165768194 165768194 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173512.1 -1 provisional p.G227 0.010 96 0% 90 28.9% 0 - - - - HMMPfam_Aa_trans SLC38A11 151258 genome.wustl.edu 37 2 165793879 165793879 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173512.1 -1 provisional p.I122L 0.062 188 0% 164 29.9% 0 - benign(0) tolerated(0.93) - HMMPfam_Aa_trans SCN3A 6328 genome.wustl.edu 37 2 165986649 165986649 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006922.3 -1 reviewed p.Y908C 1.000 325 0% 289 17.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ion_trans,superfamily_SSF81324 SCN3A 6328 genome.wustl.edu 37 2 165997297 165997297 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006922.3 -1 reviewed p.A628V 1.000 126 0% 117 35.9% 0 - benign(0.002) deleterious(0.03) neutral(0.364) NULL SCN3A 6328 genome.wustl.edu 37 2 166003509 166003509 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006922.3 -1 reviewed p.D471Y 1.000 136 0% 135 35.6% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL SCN2A 6326 genome.wustl.edu 37 2 166164357 166164357 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040142.1 +1 reviewed e3-1 1.000 386 0% 302 33.1% 0 - - - - - SCN2A 6326 genome.wustl.edu 37 2 166165182 166165182 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040142.1 +1 reviewed p.T161 0.999 217 0% 151 33.8% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166201304 166201304 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040142.1 +1 reviewed p.I934 0.999 370 0% 451 28.4% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166229751 166229751 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040142.1 +1 reviewed p.L1289S 1.000 194 0% 150 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CSRNP3 80034 genome.wustl.edu 37 2 166536078 166536078 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024969.3 +1 validated p.N525D 0.992 331 0% 320 35.9% 2 0% benign(0.014) deleterious(0.02) neutral(0.384) NULL TTC21B 79809 genome.wustl.edu 37 2 166747352 166747352 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024753.3 -1 validated p.L1033I 1.000 70 0% 83 34.9% 8 37.5% benign(0.067) tolerated(0.47) neutral(0.015) HMMSmart_SM00028,superfamily_TPR-like SCN1A 6323 genome.wustl.edu 37 2 166847928 166847928 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006920.4 -1 reviewed p.L1942F 0.999 158 0% 183 10.4% 0 - possibly_damaging(0.561) tolerated(0.55) neutral(0.199) NULL SCN1A 6323 genome.wustl.edu 37 2 166852557 166852557 + Missense_Mutation SNP G G A rs139300715 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006920.4 -1 reviewed p.S1505L 1.000 153 0% 120 34.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SSF81324 SCN9A 6335 genome.wustl.edu 37 2 167160829 167160829 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002977.3 -1 reviewed p.E203* 1.000 97 0% 76 25% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN9A 6335 genome.wustl.edu 37 2 167168168 167168168 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002977.3 -1 reviewed p.K33N 1.000 240 0% 198 30.3% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL SCN7A 6332 genome.wustl.edu 37 2 167288882 167288882 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002976.2 -1 validated p.E846 0.977 336 0% 244 30.3% 0 - - - - HMMPfam_Na_trans_assoc SCN7A 6332 genome.wustl.edu 37 2 167322343 167322343 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002976.2 -1 validated p.E273D 0.986 210 0% 213 26.3% 0 - benign(0.034) tolerated(0.93) neutral(0.002) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels XIRP2 129446 genome.wustl.edu 37 2 167760391 167760391 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152381.4 +1 validated p.Y133 0.000 115 0% 116 25% 0 - - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168100145 168100145 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152381.4 +1 validated p.S748L 0.001 171 0% 174 20.7% 0 - benign(0.002) deleterious(0.01) neutral(0.406) NULL XIRP2 129446 genome.wustl.edu 37 2 168101663 168101663 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152381.4 +1 validated p.S1254I 0.052 393 0% 376 17% 0 - possibly_damaging(0.816) deleterious(0.01) deleterious(0.714) NULL XIRP2 129446 genome.wustl.edu 37 2 168102117 168102117 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152381.4 +1 validated p.N1405K 0.000 303 0% 254 29.9% 0 - benign(0.055) tolerated(0.37) neutral(0.022) NULL XIRP2 129446 genome.wustl.edu 37 2 168103610 168103610 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152381.4 +1 validated p.E1903G 1.000 343 0% 321 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL XIRP2 129446 genome.wustl.edu 37 2 168105293 168105293 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152381.4 +1 validated p.K2464T 0.053 401 0.2% 359 30.6% 0 - possibly_damaging(0.777) deleterious(0) deleterious(0.734) NULL XIRP2 129446 genome.wustl.edu 37 2 168106476 168106476 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152381.4 +1 validated p.I2858 0.000 494 0% 417 31.4% 0 - - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168115609 168115609 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079810.2 +1 validated p.E851D 0.078 140 0% 184 27.7% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL B3GALT1 8708 genome.wustl.edu 37 2 168726445 168726445 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020981.2 +1 reviewed p.R299Q 1.000 90 0% 76 31.6% 0 - benign(0.133) tolerated(0.29) neutral(0.040) NULL STK39 27347 genome.wustl.edu 37 2 168986255 168986255 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013233.2 -1 reviewed p.E330* 1.000 358 0% 378 28.3% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase STK39 27347 genome.wustl.edu 37 2 168997201 168997201 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013233.2 -1 reviewed p.F232 1.000 167 0% 136 25.7% 4 75% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase STK39 27347 genome.wustl.edu 37 2 169018330 169018330 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013233.2 -1 reviewed p.L199I 1.000 112 0% 75 26.7% 1 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase G6PC2 57818 genome.wustl.edu 37 2 169761041 169761041 + Missense_Mutation SNP G G A rs191279338 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021176.2 +1 reviewed p.A119T 0.980 323 0% 262 32.4% 0 - unknown(0) - - HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase ABCB11 8647 genome.wustl.edu 37 2 169787221 169787221 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003742.2 -1 reviewed p.S1122N 1.000 77 0% 93 30.1% 0 - probably_damaging(0.984) deleterious(0.04) deleterious(0.779) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB11 8647 genome.wustl.edu 37 2 169851943 169851943 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003742.2 -1 reviewed p.K176T 0.999 168 0% 140 35.7% 0 - possibly_damaging(0.839) tolerated(0.14) deleterious(0.570) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain DHRS9 10170 genome.wustl.edu 37 2 169938167 169938167 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142270.1 +1 validated p.D26Y 0.059 251 0.4% 197 32% 4 0% possibly_damaging(0.816) tolerated(0.08) deleterious(0.609) NULL LRP2 4036 genome.wustl.edu 37 2 169985309 169985309 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.A4611V 0.000 286 0.3% 186 24.7% 0 - benign(0) tolerated(1) - NULL LRP2 4036 genome.wustl.edu 37 2 170003307 170003307 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.E4251D 0.996 130 0% 102 28.4% 0 - benign(0.128) tolerated(0.15) neutral(0.252) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170012868 170012868 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.N4023H 0.997 177 0% 209 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 LRP2 4036 genome.wustl.edu 37 2 170013974 170013974 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.E3976K 1.000 122 0% 104 28.8% 0 - probably_damaging(0.998) tolerated(0.25) deleterious(0.511) superfamily_LDL_rcpt_classA_cys-rich,HMMSmart_EGF LRP2 4036 genome.wustl.edu 37 2 170022469 170022469 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.D3911Y 1.000 365 0% 307 12.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170032981 170032981 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.G3504V 0.000 44 0% 52 26.9% 0 - benign(0.282) tolerated(0.07) neutral(0.405) HMMSmart_EGF LRP2 4036 genome.wustl.edu 37 2 170032999 170032999 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.R3498H 0.718 48 0% 47 40.4% 0 - benign(0.005) tolerated(0.39) neutral(0.016) HMMSmart_EGF LRP2 4036 genome.wustl.edu 37 2 170042517 170042517 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.C3114Y 1.000 124 0% 138 25.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_LDL_rcpt_classA_cys-rich,HMMSmart_EGF,superfamily_SSF57196 LRP2 4036 genome.wustl.edu 37 2 170044741 170044741 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.D3023N 1.000 160 0.6% 201 20.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170062974 170062974 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.R2419I 0.016 169 0% 152 26.3% 0 - probably_damaging(0.955) tolerated(0.32) neutral(0.423) HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170083034 170083034 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.E1764D 0.897 163 0% 147 25.9% 0 - benign(0.019) tolerated(0.7) neutral(0.003) superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170101424 170101424 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.S1070L 0.005 193 0% 179 34.1% 0 - benign(0.003) tolerated(0.18) neutral(0.056) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170112623 170112623 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004525.2 -1 reviewed p.I921 0.969 208 0% 146 28.8% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 KBTBD10 10324 genome.wustl.edu 37 2 170366982 170366982 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006063.2 +1 validated p.F232V 1.000 118 0% 125 36% 0 - benign(0.009) tolerated(0.08) neutral(0.300) HMMPfam_BACK FASTKD1 79675 genome.wustl.edu 37 2 170402874 170402874 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024622.3 -1 validated p.E519* 0.999 146 0% 118 12.7% 8 0% - - - NULL FASTKD1 79675 genome.wustl.edu 37 2 170416995 170416995 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024622.3 -1 validated p.K291N 0.985 217 0% 153 30.1% 3 0% benign(0.002) tolerated(0.29) neutral(0.029) NULL FASTKD1 79675 genome.wustl.edu 37 2 170417251 170417251 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024622.3 -1 validated p.R206Q 0.000 77 0% 72 33.3% 6 50% benign(0.001) tolerated(0.39) neutral(0.016) NULL PPIG 9360 genome.wustl.edu 37 2 170488365 170488365 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004792.2 +1 validated p.R284I 1.000 303 0% 273 27.8% 15 20% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PPIG 9360 genome.wustl.edu 37 2 170493296 170493296 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004792.2 +1 validated p.D510Y 1.000 128 0% 178 34.3% 25 56% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL PPIG 9360 genome.wustl.edu 37 2 170493913 170493913 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004792.2 +1 validated p.R715 0.994 96 0% 139 13.7% 11 18.1% - - - NULL C2orf77 129881 genome.wustl.edu 37 2 170506892 170506892 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085447.1 -1 validated p.D367Y 0.788 98 0% 86 32.6% 0 - benign(0) tolerated(0.69) neutral(0.002) NULL SSB 6741 genome.wustl.edu 37 2 170662012 170662012 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003142.3 +1 provisional p.R32Q 1.000 84 0% 84 23.8% 52 7.6% possibly_damaging(0.776) deleterious(0.04) deleterious(0.638) "HMMPfam_La,HMMSmart_SM00715,superfamily_""Winged helix"" DNA-binding domain" SSB 6741 genome.wustl.edu 37 2 170665010 170665010 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003142.3 +1 provisional p.K191N 1.000 87 0% 109 31.2% 134 41.7% benign(0.041) tolerated(0.15) neutral(0.243) superfamily_RNA-binding domain RBD SSB 6741 genome.wustl.edu 37 2 170667781 170667781 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003142.3 +1 provisional p.T362 0.893 90 0% 83 37.3% 115 39.1% - - - NULL MYO3B 140469 genome.wustl.edu 37 2 171258191 171258191 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138995.3 +1 validated p.E707K 1.000 126 0% 116 31.9% 0 - benign(0) tolerated(0.83) neutral(0.001) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO3B 140469 genome.wustl.edu 37 2 171259406 171259406 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138995.3 +1 validated p.F726 0.942 320 0.3% 226 31.4% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TLK1 9874 genome.wustl.edu 37 2 171939347 171939347 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012290.4 -1 validated p.E92K 1.000 415 0.2% 347 17% 13 15.3% possibly_damaging(0.808) deleterious(0.02) deleterious(0.687) NULL SLC25A12 8604 genome.wustl.edu 37 2 172701007 172701007 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003705.3 -1 reviewed p.E113* 1.000 159 0% 171 41.5% 3 0% - - - HMMSmart_EFh,superfamily_SSF47473 SLC25A12 8604 genome.wustl.edu 37 2 172749746 172749746 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003705.3 -1 reviewed p.D12A 1.000 116 0% 97 33% 5 0% benign(0.017) tolerated(0.36) neutral(0.021) superfamily_SSF47473 LOC100287337 100287337 genome.wustl.edu 37 2 172965686 172965686 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342279.1 +1 model p.D248Y 0.000 31 0% 21 38.1% 0 - - - - NULL DLX2 1746 genome.wustl.edu 37 2 172966875 172966875 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004405.3 -1 reviewed p.N131S 1.000 30 0% 23 17.4% 0 - benign(0.001) tolerated(0.82) neutral(0.001) NULL RAPGEF4 11069 genome.wustl.edu 37 2 173825908 173825908 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007023.3 +1 validated p.R217Q 1.000 294 0% 183 33.9% 1 0% probably_damaging(0.987) tolerated(0.65) neutral(0.440) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" ZAK 51776 genome.wustl.edu 37 2 174104149 174104149 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016653.2 +1 reviewed p.P428 0.986 95 0% 88 33% 3 66.6% - - - NULL CDCA7 83879 genome.wustl.edu 37 2 174231876 174231876 + Splice_Site SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031942.4 +1 reviewed e9-2 1.000 132 0% 128 32.8% 0 - - - - - LOC643997 643997 genome.wustl.edu 37 2 174350598 174350598 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_292963.7 -1 model p.E165K 0.765 165 0% 173 32.9% 0 - - - - superfamily_Cyclophilin-like SP3 6670 genome.wustl.edu 37 2 174820187 174820187 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003111.4 -1 reviewed p.Q351H 0.997 142 0% 139 24.5% 29 41.3% probably_damaging(0.977) tolerated(0.37) neutral(0.438) NULL OLA1 29789 genome.wustl.edu 37 2 174988352 174988352 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013341.3 -1 validated p.R201C 1.000 166 0% 158 27.8% 119 44.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases GPR155 151556 genome.wustl.edu 37 2 175301078 175301078 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033045.2 -1 validated p.V793 0.043 154 0.6% 119 37% 0 - - - - "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" GPR155 151556 genome.wustl.edu 37 2 175326196 175326196 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033045.2 -1 validated p.V498 0.991 310 0% 208 26.9% 0 - - - - NULL GPR155 151556 genome.wustl.edu 37 2 175337797 175337797 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033045.2 -1 validated p.F252 1.000 173 0% 176 30.7% 0 - - - - HMMPfam_Mem_trans LOC100133109 100133109 genome.wustl.edu 37 2 175584661 175584661 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001716442.2 -1 model p.A106V 1.000 50 0% 57 15.8% 126 0% - - - NULL EVX2 344191 genome.wustl.edu 37 2 176948482 176948482 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080458.1 -1 reviewed p.E8A 1.000 120 0% 88 30.7% 0 - probably_damaging(0.977) tolerated(0.13) deleterious(0.671) NULL EVX2 344191 genome.wustl.edu 37 2 176948494 176948494 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080458.1 -1 reviewed p.R4I 1.000 109 0% 77 32.5% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL HOXD1 3231 genome.wustl.edu 37 2 177054173 177054173 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024501.1 +1 reviewed p.S215F 0.999 30 0% 24 25% 0 - possibly_damaging(0.448) deleterious(0.02) deleterious(0.529) NULL AGPS 8540 genome.wustl.edu 37 2 178310273 178310273 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003659.3 +1 reviewed e8-1 1.000 207 0% 134 26.9% 0 - - - - - AGPS 8540 genome.wustl.edu 37 2 178346807 178346807 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003659.3 +1 reviewed p.E376* 1.000 193 0% 147 32% 6 0% - - - superfamily_FAD-linked oxidases C-terminal domain,superfamily_FAD-binding domain TTC30B 150737 genome.wustl.edu 37 2 178416126 178416126 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152517.2 -1 validated p.D456N 1.000 649 0.2% 463 18.6% 7 28.5% benign(0.001) tolerated(0.11) neutral(0.272) HMMSmart_SM00028,superfamily_TPR-like TTC30B 150737 genome.wustl.edu 37 2 178416196 178416196 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152517.2 -1 validated p.K432N 0.999 663 0% 500 21.8% 2 0% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMSmart_SM00028,superfamily_TPR-like PDE11A 50940 genome.wustl.edu 37 2 178769868 178769868 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016953.3 -1 reviewed p.A373V 1.000 121 0% 88 23.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00065,superfamily_GAF domain-like OSBPL6 114880 genome.wustl.edu 37 2 179197752 179197752 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145739.1 +1 reviewed p.S193Y 0.989 191 0% 142 13.4% 0 - benign(0.123) tolerated(0.3) neutral(0.038) NULL OSBPL6 114880 genome.wustl.edu 37 2 179247784 179247784 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145739.1 +1 reviewed p.R556Q 1.000 124 0% 116 30.2% 0 - possibly_damaging(0.867) tolerated(0.59) neutral(0.341) HMMPfam_Oxysterol_BP PRKRA 8575 genome.wustl.edu 37 2 179300964 179300964 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003690.4 -1 reviewed p.R231I 1.000 295 0% 285 29.5% 27 22.2% possibly_damaging(0.563) tolerated(0.25) neutral(0.230) superfamily_dsRNA-binding domain-like DFNB59 494513 genome.wustl.edu 37 2 179318141 179318141 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042702.3 +1 reviewed p.F2C 1.000 36 0% 32 21.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gasdermin DFNB59 494513 genome.wustl.edu 37 2 179318300 179318300 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042702.3 +1 reviewed p.P55H 1.000 37 0% 38 31.6% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Gasdermin FKBP7 51661 genome.wustl.edu 37 2 179343185 179343185 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181342.2 -1 reviewed p.F14L 0.977 159 0% 133 12% 4 0% benign(0.009) tolerated(0.18) neutral(0.057) NULL TTN 7273 genome.wustl.edu 37 2 179393145 179393145 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.S33175A 0.999 122 0% 93 25.8% 0 - benign(0.006) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179395644 179395644 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133378.4 -1 reviewed p.E32665* 0.766 299 0% 254 33.1% 0 - benign(0) - - NULL TTN 7273 genome.wustl.edu 37 2 179398749 179398749 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.D31628G 1.000 181 0% 166 30.1% 0 - benign(0.087) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179400750 179400750 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.Q31005R 1.000 162 0% 121 29.8% 0 - benign(0.01) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179404920 179404920 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.R30088Q 1.000 383 0% 303 30.4% 0 - probably_damaging(0.99) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179412801 179412801 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133378.4 -1 reviewed p.S28616F 1.000 157 0% 186 34.9% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179413390 179413390 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133378.4 -1 reviewed p.E28420* 1.000 222 0% 197 26.9% 0 - probably_damaging(0.995) - - NULL TTN 7273 genome.wustl.edu 37 2 179416837 179416837 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.K27694E 1.000 236 0% 190 28.9% 0 - probably_damaging(0.978) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179417770 179417770 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133378.4 -1 reviewed p.C27384* 0.955 68 0% 70 35.7% 0 - possibly_damaging(0.9) - - NULL TTN 7273 genome.wustl.edu 37 2 179418322 179418322 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.V27234F 1.000 188 0% 143 37.8% 0 - probably_damaging(0.963) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179423351 179423351 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133378.4 -1 reviewed p.H26377R 1.000 74 0% 62 33.9% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179424449 179424449 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.T26234A 1.000 265 0% 261 25.3% 0 - possibly_damaging(0.656) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179430641 179430641 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.T24170A 1.000 267 0% 300 31.7% 0 - benign(0.311) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179435326 179435326 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.D22608G 1.000 69 0% 95 32.6% 0 - possibly_damaging(0.888) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179435849 179435849 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.R22434C 1.000 151 0% 174 33.3% 0 - probably_damaging(0.998) - - NULL TTN 7273 genome.wustl.edu 37 2 179436734 179436734 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.A22139T 1.000 75 0% 79 40.5% 0 - possibly_damaging(0.755) - - NULL TTN 7273 genome.wustl.edu 37 2 179436919 179436919 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.R22077Q 1.000 77 0% 64 26.6% 0 - possibly_damaging(0.916) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179441978 179441978 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133378.4 -1 reviewed p.R20460Q 0.674 68 0% 64 21.9% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179446396 179446396 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.S19630F 0.998 36 0% 33 33.3% 0 - possibly_damaging(0.847) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179447704 179447704 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133378.4 -1 reviewed p.V19374A 0.999 51 0% 47 29.8% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179453374 179453374 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.Q18456H 1.000 265 0% 257 35.8% 0 - possibly_damaging(0.951) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179459190 179459190 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.Y16774C 1.000 108 0% 109 26.6% 0 - benign(0.127) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179463909 179463909 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.L16301I 1.000 392 0% 384 28.4% 0 - possibly_damaging(0.539) - - HMMPfam_fn3 TTN 7273 genome.wustl.edu 37 2 179467274 179467274 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.T15717 0.998 51 0% 41 36.6% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179469563 179469563 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.T15517A 0.992 202 0% 188 27.7% 0 - benign(0.099) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179476304 179476304 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.I14316 0.789 212 0% 197 32.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179480376 179480376 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.T13583N 1.000 368 0% 336 16.1% 0 - possibly_damaging(0.539) - - NULL TTN 7273 genome.wustl.edu 37 2 179481733 179481733 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.P13393 0.999 226 0% 261 32.2% 0 - - - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179485207 179485207 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.V12779 0.031 172 0% 185 34.1% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179496966 179496966 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.S11984L 0.996 26 0% 27 44.4% 0 - benign(0.29) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179496982 179496982 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.E11979K 1.000 21 0% 26 34.6% 0 - benign(0.099) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179523048 179523048 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000392423 -1 known p.K774N 0.174 180 0% 177 21.5% 0 - unknown(0) tolerated(0.2) - NULL TTN 7273 genome.wustl.edu 37 2 179523194 179523194 + Splice_Site SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000392423 -1 known e27+1 0.352 316 0% 292 17.5% 0 - - - - - TTN 7273 genome.wustl.edu 37 2 179527747 179527747 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.E10507* 0.020 160 0% 165 7.3% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179536961 179536961 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.A10354V 0.994 90 0% 90 33.3% 0 - unknown(0) deleterious(0) - NULL TTN 7273 genome.wustl.edu 37 2 179546457 179546457 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.K9791Q 1.000 108 0% 129 24.8% 0 - unknown(0) tolerated(0.22) - NULL TTN 7273 genome.wustl.edu 37 2 179549099 179549099 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.L9650I 0.999 56 0% 57 29.8% 0 - unknown(0) - - HMMPfam_PPAK TTN 7273 genome.wustl.edu 37 2 179552941 179552941 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.E9492 1.000 216 0% 205 25.9% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179569635 179569635 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.S8644* 1.000 312 0% 280 31.8% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179572447 179572447 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.S8372F 0.997 139 0% 107 27.1% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179577284 179577284 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.S7878I 1.000 96 0% 103 39.8% 0 - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179582279 179582279 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.A7197V 0.788 69 0% 65 23.1% 0 - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179582867 179582867 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.G7045E 1.000 176 0% 197 36% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179585804 179585804 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.E6404K 1.000 187 0% 185 38.4% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179585824 179585824 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.S6397* 0.000 182 0% 182 29.7% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179587600 179587600 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.L6098 1.000 91 0% 83 26.5% 0 - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179587888 179587888 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.E6038D 0.995 104 0% 105 34.3% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179588030 179588030 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.R5991I 0.695 110 0% 107 10.3% 0 - unknown(0) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179594439 179594439 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.R4937* 1.000 317 0% 289 32.5% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179594650 179594650 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.K4866 1.000 71 0% 99 29.3% 0 - - - - HMMSmart_SM00406,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179595024 179595024 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.V4791M 1.000 77 0% 65 18.5% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179595482 179595482 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.K4682 1.000 264 0% 288 31.2% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179597313 179597313 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.S4248Y 0.999 90 0% 88 31.8% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179598567 179598567 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.Q3939H 0.943 174 0% 185 31.9% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179600376 179600376 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.D3689Y 1.000 76 0% 76 30.3% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179603065 179603065 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356127 -1 known p.K3461N 1.000 76 0% 48 29.2% 0 - benign(0.29) - - HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179611780 179611780 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133379.3 -1 reviewed p.R5116I 0.000 210 0% 154 27.9% 0 - possibly_damaging(0.496) deleterious(0) deleterious(0.610) NULL TTN 7273 genome.wustl.edu 37 2 179613329 179613329 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133379.3 -1 reviewed p.E4600* 0.601 390 0.3% 280 33.6% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179613548 179613548 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133379.3 -1 reviewed p.N4527D 0.000 239 0% 199 30.2% 0 - benign(0.042) deleterious(0) neutral(0.447) NULL TTN 7273 genome.wustl.edu 37 2 179615146 179615146 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133379.3 -1 reviewed p.S3994L 0.216 177 0.6% 156 28.8% 0 - benign(0.064) tolerated(0.74) neutral(0.005) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179615363 179615363 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133379.3 -1 reviewed p.E3922K 0.007 113 0% 110 37.3% 0 - benign(0) tolerated(0.18) neutral(0.056) NULL TTN 7273 genome.wustl.edu 37 2 179623847 179623847 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133379.3 -1 reviewed p.F3389 1.000 153 0% 125 27.2% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179628954 179628954 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133379.3 -1 reviewed p.V3355A 0.064 98 0% 81 24.7% 0 - benign(0.099) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179632532 179632532 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133379.3 -1 reviewed p.V3142A 1.000 244 0% 227 29.5% 0 - possibly_damaging(0.737) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179640740 179640740 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133379.3 -1 reviewed p.V1951I 0.000 432 0% 372 24.2% 0 - possibly_damaging(0.539) - - NULL CCDC141 285025 genome.wustl.edu 37 2 179702464 179702464 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173648.2 -1 provisional p.V586G 0.000 182 0% 168 32.7% 0 - benign(0.004) deleterious(0.05) neutral(0.345) NULL CCDC141 285025 genome.wustl.edu 37 2 179742640 179742640 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000409284 -1 known p.K650N 0.997 182 0% 179 31.8% 0 - unknown(0) - - NULL SESTD1 91404 genome.wustl.edu 37 2 179981457 179981457 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178123.4 -1 validated p.D529N 1.000 280 0% 207 31.4% 16 43.7% probably_damaging(0.995) tolerated(1) neutral(0.458) HMMSmart_SPEC,superfamily_Spectrin ZNF385B 151126 genome.wustl.edu 37 2 180311386 180311386 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152520.4 -1 validated p.S261Y 0.364 187 0% 154 29.9% 0 - benign(0.127) tolerated(0.05) neutral(0.356) NULL ZNF385B 151126 genome.wustl.edu 37 2 180409606 180409606 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152520.4 -1 validated p.S115Y 1.000 282 0% 240 15% 0 - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) NULL LOC100131482 100131482 genome.wustl.edu 37 2 180679148 180679148 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001722616.1 +1 model p.V57 1.000 91 0% 77 28.6% 0 - - - - HMMPfam_DIM1,superfamily_Thioredoxin-like CWC22 57703 genome.wustl.edu 37 2 180815606 180815606 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020943.2 -1 validated p.R622I 1.000 63 0% 78 35.9% 7 28.5% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL ITGA4 3676 genome.wustl.edu 37 2 182344868 182344868 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000885.4 +1 reviewed p.L210S 1.000 248 0% 178 30.3% 0 - possibly_damaging(0.897) deleterious(0.02) deleterious(0.737) superfamily_Integrin alpha N-terminal domain ITGA4 3676 genome.wustl.edu 37 2 182346351 182346351 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000885.4 +1 reviewed p.R261W 0.961 171 0% 105 28.6% 1 0% benign(0.003) tolerated(0.11) neutral(0.272) HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain SSFA2 6744 genome.wustl.edu 37 2 182780502 182780502 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130445.1 +1 validated p.R712H 1.000 253 0% 319 14.1% 35 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PDE1A 5136 genome.wustl.edu 37 2 183066481 183066481 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005019.3 -1 validated p.S329Y 1.000 205 0% 175 33.7% 4 0% possibly_damaging(0.904) deleterious(0) deleterious(0.803) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 PDE1A 5136 genome.wustl.edu 37 2 183094750 183094750 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005019.3 -1 validated p.L236I 1.000 129 0% 108 34.3% 3 0% benign(0.189) tolerated(0.36) neutral(0.038) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 PDE1A 5136 genome.wustl.edu 37 2 183105012 183105012 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005019.3 -1 validated p.L75M 0.420 245 0% 236 30.5% 0 - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) HMMPfam_PDEase_I_N FRZB 2487 genome.wustl.edu 37 2 183699601 183699601 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001463.3 -1 reviewed p.S318L 0.058 174 0.6% 185 32.4% 7 0% benign(0.026) deleterious(0) neutral(0.446) NULL ZNF804A 91752 genome.wustl.edu 37 2 185731142 185731142 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194250.1 +1 provisional p.L53R 1.000 127 0% 121 24.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZNF804A 91752 genome.wustl.edu 37 2 185801972 185801972 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194250.1 +1 provisional p.R617C 0.000 558 0% 435 26.9% 0 - possibly_damaging(0.454) deleterious(0.04) deleterious(0.497) NULL ZNF804A 91752 genome.wustl.edu 37 2 185802508 185802508 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194250.1 +1 provisional p.F795L 0.000 390 0% 349 35.2% 0 - benign(0.026) tolerated(0.15) neutral(0.242) NULL FSIP2 401024 genome.wustl.edu 37 2 186669721 186669721 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000424728 +1 known p.E5230* 1.000 51 0% 72 26.4% 0 - - - - NULL FSIP2 401024 genome.wustl.edu 37 2 186671430 186671430 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000424728 +1 known p.I5799 0.612 164 0% 172 32.6% 0 - - - - NULL FSIP2 401024 genome.wustl.edu 37 2 186671860 186671860 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000424728 +1 known p.E5943* 0.045 190 0% 230 39.1% 0 - - - - NULL FSIP2 401024 genome.wustl.edu 37 2 186673852 186673852 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000424728 +1 known p.P6607S 0.987 108 0% 99 26.3% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL ZC3H15 55854 genome.wustl.edu 37 2 187373395 187373395 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018471.2 +1 validated p.L406I 1.000 125 0% 80 43.8% 73 35.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ITGAV 3685 genome.wustl.edu 37 2 187503027 187503027 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002210.3 +1 reviewed p.A276T 1.000 92 0% 79 20.3% 4 100% benign(0.223) tolerated(0.09) neutral(0.319) HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ITGAV 3685 genome.wustl.edu 37 2 187514596 187514596 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002210.3 +1 reviewed p.R461* 1.000 110 0% 97 38.1% 14 7.1% - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain FAM171B 165215 genome.wustl.edu 37 2 187605028 187605028 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177454.3 +1 validated p.E104D 0.987 132 0% 74 28.4% 0 - benign(0.32) tolerated(0.21) neutral(0.144) HMMPfam_UPF0560 CALCRL 10203 genome.wustl.edu 37 2 188245205 188245205 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005795.4 -1 validated p.E133K 0.594 327 0% 221 31.7% 6 0% benign(0.408) tolerated(0.1) neutral(0.418) HMMSmart_HormR,superfamily_SSF111418 TFPI 7035 genome.wustl.edu 37 2 188332600 188332600 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006287.4 -1 reviewed p.E230K 0.206 192 0.5% 171 24.6% 7 0% possibly_damaging(0.544) deleterious(0.03) deleterious(0.549) HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,superfamily_BPTI-like TFPI 7035 genome.wustl.edu 37 2 188368393 188368393 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006287.4 -1 reviewed p.E35* 0.691 217 0% 162 28.4% 8 0% - - - NULL ANKAR 150709 genome.wustl.edu 37 2 190559719 190559719 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144708.3 +1 validated p.I369 0.058 58 0% 54 42.6% 0 - - - - superfamily_Ankyrin repeat PMS1 5378 genome.wustl.edu 37 2 190719217 190719217 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000534.4 +1 reviewed p.L407V 0.822 210 0% 213 32.4% 5 40% benign(0.02) deleterious(0.02) neutral(0.384) NULL STAT1 6772 genome.wustl.edu 37 2 191841713 191841713 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007315.3 -1 reviewed p.E638* 1.000 186 0% 139 27.3% 62 0% - - - HMMPfam_SH2,superfamily_SH2 domain STAT1 6772 genome.wustl.edu 37 2 191841736 191841736 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007315.3 -1 reviewed p.A630V 1.000 163 0% 124 33.1% 59 32.2% possibly_damaging(0.496) deleterious(0) deleterious(0.610) HMMPfam_SH2,superfamily_SH2 domain STAT4 6775 genome.wustl.edu 37 2 191922753 191922753 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003151.2 -1 reviewed p.F399 1.000 172 0% 192 24% 1 0% - - - superfamily_P53_like_DNA_bnd,HMMPfam_STAT_bind SLC39A10 57181 genome.wustl.edu 37 2 196545453 196545453 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127257.1 +1 validated p.P229 0.011 221 0% 194 27.3% 6 50% - - - NULL SLC39A10 57181 genome.wustl.edu 37 2 196548480 196548480 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127257.1 +1 validated p.S356P 1.000 335 0% 245 26.5% 3 0% possibly_damaging(0.813) deleterious(0.01) deleterious(0.713) NULL DNAH7 56171 genome.wustl.edu 37 2 196659101 196659101 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018897.2 -1 validated p.P3559 0.072 314 0% 297 30.3% 0 - - - - HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196673459 196673459 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018897.2 -1 validated p.R3344C 1.000 253 0% 209 27.8% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196681533 196681533 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018897.2 -1 validated p.K3194Q 0.770 225 0% 197 26.9% 0 - benign(0.042) tolerated(0.43) neutral(0.016) NULL DNAH7 56171 genome.wustl.edu 37 2 196709789 196709789 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018897.2 -1 validated p.R2961Q 0.995 79 0% 56 25% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL DNAH7 56171 genome.wustl.edu 37 2 196749422 196749422 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018897.2 -1 validated p.R1884* 0.000 172 0% 115 21.7% 0 - - - - NULL HECW2 57520 genome.wustl.edu 37 2 197086952 197086952 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020760.1 -1 provisional p.E1377K 1.000 124 0% 113 29.2% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECW2 57520 genome.wustl.edu 37 2 197106879 197106879 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020760.1 -1 provisional p.F1193 1.000 231 0% 177 27.1% 1 0% - - - NULL CCDC150 284992 genome.wustl.edu 37 2 197590746 197590746 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080539.1 +1 provisional p.R827C 0.997 96 0% 55 34.5% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL CCDC150 284992 genome.wustl.edu 37 2 197594039 197594039 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080539.1 +1 provisional p.K893N 1.000 395 0% 309 30.4% 1 0% probably_damaging(0.995) tolerated(0.14) deleterious(0.707) NULL GTF3C3 9330 genome.wustl.edu 37 2 197634728 197634728 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012086.2 -1 provisional p.E766K 0.846 101 0% 88 22.7% 18 77.7% benign(0.01) tolerated(0.81) neutral(0.001) superfamily_TPR-like GTF3C3 9330 genome.wustl.edu 37 2 197654095 197654095 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012086.2 -1 provisional e6-2 1.000 78 0% 98 29.6% 0 - - - - - PGAP1 80055 genome.wustl.edu 37 2 197708733 197708733 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024989.3 -1 validated p.L802I 0.013 90 0% 64 35.9% 5 20% benign(0) tolerated(0.36) neutral(0.020) NULL PGAP1 80055 genome.wustl.edu 37 2 197757891 197757891 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024989.3 -1 validated p.N336Y 1.000 157 0% 91 24.2% 1 100% possibly_damaging(0.915) tolerated(0.13) deleterious(0.619) NULL ANKRD44 91526 genome.wustl.edu 37 2 197953462 197953462 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153697.1 -1 provisional p.T382M 1.000 231 0% 214 35% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK HSPD1 3329 genome.wustl.edu 37 2 198353095 198353095 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002156.4 -1 reviewed p.R446* 1.000 133 0.8% 120 30% 326 7% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase RFTN2 130132 genome.wustl.edu 37 2 198508990 198508990 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144629.2 -1 validated p.K110 0.760 62 0% 66 16.7% 0 - - - - NULL BOLL 66037 genome.wustl.edu 37 2 198631320 198631320 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_197970.2 -1 validated p.S175F 1.000 61 0% 51 31.4% 0 - possibly_damaging(0.454) tolerated(0.07) neutral(0.468) NULL BOLL 66037 genome.wustl.edu 37 2 198636692 198636692 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_197970.2 -1 validated p.P135S 1.000 140 0.7% 121 33.9% 0 - possibly_damaging(0.825) tolerated(0.09) deleterious(0.609) NULL PLCL1 5334 genome.wustl.edu 37 2 198950163 198950163 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006226.3 +1 validated p.R543I 0.998 212 0% 177 32.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_PLC-like_Pdiesterase_TIM-brl PLCL1 5334 genome.wustl.edu 37 2 198950324 198950324 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006226.3 +1 validated p.L597I 1.000 276 0% 237 33.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_PLC-like_Pdiesterase_TIM-brl SATB2 23314 genome.wustl.edu 37 2 200137190 200137190 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015265.3 -1 reviewed p.S649L 1.000 195 0% 190 31.6% 6 16.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like SATB2 23314 genome.wustl.edu 37 2 200245104 200245104 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015265.3 -1 reviewed p.E194* 1.000 296 0.3% 251 28.7% 2 50% - - - NULL SPATS2L 26010 genome.wustl.edu 37 2 201332030 201332030 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100422.1 +1 validated p.R289C 1.000 151 0% 167 37.1% 38 7.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1387 SPATS2L 26010 genome.wustl.edu 37 2 201337625 201337625 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100422.1 +1 validated p.H377 0.024 107 0% 101 24.8% 42 7.1% - - - NULL SPATS2L 26010 genome.wustl.edu 37 2 201342680 201342680 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100422.1 +1 validated p.L535I 0.994 58 0% 40 47.5% 54 11.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KCTD18 130535 genome.wustl.edu 37 2 201369647 201369647 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152387.2 -1 validated p.K66Q 1.000 132 0% 103 34% 5 100% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_K_tetra,superfamily_POZ domain SGOL2 151246 genome.wustl.edu 37 2 201436055 201436055 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152524.5 +1 validated p.L329R 0.302 129 0% 114 34.2% 5 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL SGOL2 151246 genome.wustl.edu 37 2 201436947 201436947 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152524.5 +1 validated p.M626I 0.000 318 0% 277 32.9% 6 66.6% benign(0.074) tolerated(0.29) neutral(0.034) NULL ORC2 4999 genome.wustl.edu 37 2 201778130 201778130 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006190.3 -1 reviewed p.S512Y 1.000 109 0% 114 31.6% 21 42.8% possibly_damaging(0.625) deleterious(0.05) deleterious(0.564) HMMPfam_ORC2 FAM126B 285172 genome.wustl.edu 37 2 201846373 201846373 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173822.3 -1 validated p.R405C 1.000 117 0% 95 26.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CASP10 843 genome.wustl.edu 37 2 202073854 202073854 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032977.3 +1 reviewed p.T328 0.000 193 0% 221 31.2% 0 - - - - HMMPfam_Peptidase_C14,HMMSmart_CASc,superfamily_SSF52129 CASP8 841 genome.wustl.edu 37 2 202137666 202137666 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080125.1 +1 reviewed e5+1 0.943 238 0% 262 31.3% 0 - - - - - ALS2CR12 130540 genome.wustl.edu 37 2 202173902 202173902 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000415745 -1 known p.S24L 0.005 768 0% 562 31% 0 - - - - NULL STRADB 55437 genome.wustl.edu 37 2 202323506 202323506 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018571.5 +1 reviewed e2-1 1.000 124 0% 101 37.6% 0 - - - - - STRADB 55437 genome.wustl.edu 37 2 202344745 202344745 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000392249 +1 known p.F376L 0.997 201 0% 175 32% 0 - unknown(0) - - superfamily_Kinase_like ALS2CR11 151254 genome.wustl.edu 37 2 202400820 202400820 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152525.5 -1 validated p.N477I 0.000 274 0% 189 27% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ALS2 57679 genome.wustl.edu 37 2 202574622 202574622 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020919.3 -1 reviewed p.R1421Q 1.000 260 0% 214 28.5% 3 33.3% probably_damaging(0.992) tolerated(0.09) deleterious(0.744) superfamily_VPS9 domain (Pfam 02204) FZD7 8324 genome.wustl.edu 37 2 202899668 202899668 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003507.1 +1 reviewed p.F100V 1.000 55 0% 38 31.6% 4 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 FZD7 8324 genome.wustl.edu 37 2 202900184 202900184 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003507.1 +1 reviewed p.V272I 1.000 64 0% 61 39.3% 4 75% possibly_damaging(0.944) tolerated(0.06) deleterious(0.711) HMMPfam_Frizzled NOP58 51602 genome.wustl.edu 37 2 203152394 203152394 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015934.3 +1 provisional p.Y149S 1.000 177 0% 155 20% 67 49.2% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) NULL FAM117B 150864 genome.wustl.edu 37 2 203591001 203591001 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173511.3 +1 validated p.R48K 1.000 150 0% 150 23.3% 2 50% possibly_damaging(0.95) deleterious(0.03) deleterious(0.758) NULL ICA1L 130026 genome.wustl.edu 37 2 203650654 203650654 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138468.4 -1 validated p.K440N 1.000 120 0% 85 11.8% 0 - benign(0.071) tolerated(0.98) neutral(0.005) HMMPfam_ICA69 NBEAL1 65065 genome.wustl.edu 37 2 204048101 204048101 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114132.1 +1 validated p.R2203M 1.000 146 0% 129 30.2% 0 - probably_damaging(0.978) tolerated(0.07) deleterious(0.740) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like NBEAL1 65065 genome.wustl.edu 37 2 204073899 204073899 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114132.1 +1 validated p.I2518V 1.000 93 0% 117 32.5% 4 25% benign(0.21) tolerated(0.53) neutral(0.028) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CYP20A1 57404 genome.wustl.edu 37 2 204111485 204111485 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177538.2 +1 reviewed p.N44H 1.000 314 0% 319 28.5% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_p450,superfamily_Cytochrome_P450 ABI2 10152 genome.wustl.edu 37 2 204231627 204231627 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005759.4 +1 validated p.E49* 1.000 137 0% 122 25.4% 4 25% - - - NULL PARD3B 117583 genome.wustl.edu 37 2 206480282 206480282 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152526.4 +1 validated p.P1059 0.053 184 0% 151 32.5% 1 0% - - - NULL NRP2 8828 genome.wustl.edu 37 2 206587262 206587262 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201266.1 +1 reviewed p.F165C 1.000 129 0% 144 29.2% 21 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain NRP2 8828 genome.wustl.edu 37 2 206608245 206608245 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201266.1 +1 reviewed p.Y537C 0.983 113 0% 103 40.8% 38 42.1% probably_damaging(0.971) deleterious(0.04) deleterious(0.762) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like ZDBF2 57683 genome.wustl.edu 37 2 207170018 207170018 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020923.1 +1 validated p.E256* 0.001 81 0% 74 21.6% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207176038 207176038 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020923.1 +1 validated p.A2262 0.005 54 0% 44 34.1% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207176039 207176039 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020923.1 +1 validated p.K2263Q 0.231 54 0% 43 32.6% 0 - possibly_damaging(0.81) deleterious(0) deleterious(0.750) NULL ADAM23 8745 genome.wustl.edu 37 2 207310163 207310163 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003812.2 +1 reviewed p.R116I 1.000 194 0% 114 34.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pep_M12B_propep FASTKD2 22868 genome.wustl.edu 37 2 207632019 207632019 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136193.1 +1 reviewed p.R201H 1.000 170 0% 170 28.8% 39 51.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PTH2R 5746 genome.wustl.edu 37 2 209307125 209307125 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005048.2 +1 reviewed p.V150I 0.001 414 0% 312 29.5% 0 - benign(0.018) tolerated(0.63) neutral(0.004) HMMPfam_7tm_2,superfamily_SSF111418,superfamily_SSF81321 PTH2R 5746 genome.wustl.edu 37 2 209308223 209308223 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005048.2 +1 reviewed p.Q220 0.000 273 0.4% 162 25.9% 0 - - - - HMMPfam_7tm_2,superfamily_SSF81321 MAP2 4133 genome.wustl.edu 37 2 210559864 210559864 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002374.3 +1 reviewed p.F990 0.000 172 0% 187 27.3% 1 100% - - - HMMPfam_MAP2_projctn CPS1 1373 genome.wustl.edu 37 2 211469942 211469942 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122633.1 +1 reviewed p.E657D 1.000 85 0% 111 23.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CPSase_L_D2,superfamily_Glutathione synthetase ATP-binding domain-like CPS1 1373 genome.wustl.edu 37 2 211502448 211502448 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122633.1 +1 reviewed p.L910M 0.997 297 0% 206 25.7% 3 0% possibly_damaging(0.863) tolerated(0.2) neutral(0.383) HMMPfam_CPSase_L_D3,superfamily_Carbamoyl phosphate synthetase large subunit connection domain CPS1 1373 genome.wustl.edu 37 2 211523389 211523389 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122633.1 +1 reviewed p.L1251I 1.000 124 0% 90 22.2% 0 - possibly_damaging(0.72) tolerated(1) neutral(0.261) superfamily_Glutathione synthetase ATP-binding domain-like CPS1 1373 genome.wustl.edu 37 2 211539635 211539635 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122633.1 +1 reviewed p.R1377W 1.000 231 0% 167 31.7% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_Methylglyoxal synthase-like ERBB4 2066 genome.wustl.edu 37 2 212251730 212251730 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005235.2 -1 reviewed p.T1110I 1.000 108 0% 78 33.3% 0 - possibly_damaging(0.488) tolerated(0.09) neutral(0.459) NULL ERBB4 2066 genome.wustl.edu 37 2 212285173 212285173 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005235.2 -1 reviewed p.S1043L 1.000 76 0% 59 40.7% 0 - possibly_damaging(0.72) deleterious(0.01) deleterious(0.667) NULL ERBB4 2066 genome.wustl.edu 37 2 212537949 212537949 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000260943 -1 known p.V552A 1.000 142 0% 113 30.1% 0 - - - - HMMSmart_SM00261,superfamily_Growth factor receptor domain BARD1 580 genome.wustl.edu 37 2 215646178 215646178 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000465.2 -1 reviewed p.K140N 1.000 217 0% 196 30.6% 1 0% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL ABCA12 26154 genome.wustl.edu 37 2 215797379 215797379 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173076.2 -1 reviewed p.Q2589 1.000 83 0% 71 31% 2 0% - - - NULL ABCA12 26154 genome.wustl.edu 37 2 215807684 215807684 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173076.2 -1 reviewed p.F2467L 1.000 149 0% 125 38.4% 0 - probably_damaging(0.993) tolerated(0.19) deleterious(0.499) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA12 26154 genome.wustl.edu 37 2 215819952 215819952 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173076.2 -1 reviewed p.L2123I 1.000 127 0% 77 37.7% 1 0% probably_damaging(0.999) tolerated(0.45) deleterious(0.502) NULL ABCA12 26154 genome.wustl.edu 37 2 215833494 215833494 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173076.2 -1 reviewed p.D1910Y 0.998 342 0% 301 27.2% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL ABCA12 26154 genome.wustl.edu 37 2 215835087 215835087 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173076.2 -1 reviewed p.R1867I 1.000 136 0% 144 29.2% 0 - benign(0.188) tolerated(0.18) neutral(0.074) NULL ABCA12 26154 genome.wustl.edu 37 2 215835114 215835114 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173076.2 -1 reviewed p.K1858T 0.236 139 0% 129 16.3% 0 - benign(0) tolerated(0.51) neutral(0.009) NULL ABCA12 26154 genome.wustl.edu 37 2 215838750 215838750 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173076.2 -1 reviewed p.D1829N 0.000 148 0% 121 25.6% 4 0% benign(0) tolerated(0.22) neutral(0.042) NULL ABCA12 26154 genome.wustl.edu 37 2 215884496 215884496 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173076.2 -1 reviewed p.E438K 0.051 206 0% 151 35.1% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL ABCA12 26154 genome.wustl.edu 37 2 215928927 215928927 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173076.2 -1 reviewed p.R60Q 1.000 151 0% 157 32.5% 1 100% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL FN1 2335 genome.wustl.edu 37 2 216271189 216271189 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_212482.1 -1 reviewed p.D920Y 1.000 73 0% 55 29.1% 116 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216272025 216272025 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_212482.1 -1 reviewed p.S846 0.063 280 0% 207 29.5% 85 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MREG 55686 genome.wustl.edu 37 2 216861088 216861088 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018000.2 -1 validated p.D66N 0.994 311 0% 314 33.4% 7 85.7% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL TNS1 7145 genome.wustl.edu 37 2 218747128 218747128 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022648.4 -1 reviewed p.R293Q 1.000 86 0% 63 34.9% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_C2_CaLB,HMMPfam_PTEN_C2 GPBAR1 151306 genome.wustl.edu 37 2 219128278 219128278 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077191.1 +1 reviewed p.P277 0.926 50 0% 47 25.5% 1 0% - - - superfamily_Family A G protein-coupled receptor-like VIL1 7429 genome.wustl.edu 37 2 219295706 219295706 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000440053 +1 known p.E403K 0.000 18 0% 22 22.7% 0 - benign(0.031) - - NULL USP37 57695 genome.wustl.edu 37 2 219374823 219374823 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020935.2 -1 validated p.L302V 1.000 418 0% 403 20.6% 0 - possibly_damaging(0.794) tolerated(0.12) deleterious(0.558) NULL USP37 57695 genome.wustl.edu 37 2 219399404 219399404 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020935.2 -1 validated p.S236P 0.987 229 0% 202 27.7% 1 0% possibly_damaging(0.508) tolerated(0.07) deleterious(0.489) NULL PLCD4 84812 genome.wustl.edu 37 2 219480768 219480768 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032726.2 +1 provisional p.G55D 0.356 19 0% 39 38.5% 0 - benign(0.224) tolerated(0.49) neutral(0.033) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PLCD4 84812 genome.wustl.edu 37 2 219487409 219487409 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032726.2 +1 provisional p.E194K 1.000 148 0% 178 27% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMSmart_SM00054,PatternScan_EF_HAND_1,superfamily_EF-hand CYP27A1 1593 genome.wustl.edu 37 2 219677680 219677680 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000784.3 +1 reviewed p.M293R 0.761 82 0% 88 38.6% 14 0% benign(0.035) deleterious(0.01) neutral(0.408) HMMPfam_p450,superfamily_Cytochrome P450 NHEJ1 79840 genome.wustl.edu 37 2 219942061 219942061 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024782.2 -1 reviewed p.A244 0.025 128 0% 119 31.1% 9 22.2% - - - NULL GLB1L 79411 genome.wustl.edu 37 2 220104360 220104360 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024506.3 -1 provisional p.Q275H 0.893 225 0% 229 34.9% 8 37.5% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases STK16 8576 genome.wustl.edu 37 2 220111441 220111441 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008910.2 +1 validated p.R50Q 1.000 53 0% 43 39.5% 36 41.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Kinase_like,HMMPfam_Pkinase PTPRN 5798 genome.wustl.edu 37 2 220160950 220160950 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002846.2 -1 reviewed p.E836* 1.000 346 0% 225 24.9% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II SPEG 10290 genome.wustl.edu 37 2 220332071 220332071 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005876.4 +1 validated p.F1019 0.998 29 0% 17 41.2% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin GMPPA 29926 genome.wustl.edu 37 2 220366556 220366556 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000373924 +1 known p.S7L 0.368 89 0% 102 38.2% 0 - unknown(0) deleterious(0) - NULL ASIC4 55515 genome.wustl.edu 37 2 220396601 220396601 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018674.4 +1 reviewed p.Y362C 1.000 128 0% 122 35.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ASC EPHA4 2043 genome.wustl.edu 37 2 222301283 222301283 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004438.3 -1 reviewed p.R728C 1.000 210 0% 225 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like PAX3 5077 genome.wustl.edu 37 2 223084957 223084957 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181459.2 -1 reviewed p.T359P 1.000 76 0% 47 36.2% 0 - benign(0.051) tolerated(0.2) neutral(0.052) NULL CCDC140 151278 genome.wustl.edu 37 2 223169040 223169040 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153038.1 +1 validated p.A140V 0.000 67 0% 80 28.7% 0 - unknown(0) - - NULL FARSB 10056 genome.wustl.edu 37 2 223513509 223513509 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005687.3 -1 reviewed p.E22K 1.000 179 0% 151 24.5% 22 22.7% benign(0.03) tolerated(0.16) neutral(0.061) superfamily_Putative DNA-binding domain DOCK10 55619 genome.wustl.edu 37 2 225651759 225651759 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014689.2 -1 validated p.R1879C 1.000 266 0% 244 27% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOCK10 55619 genome.wustl.edu 37 2 225710341 225710341 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014689.2 -1 validated p.T752A 1.000 340 0% 225 25.8% 1 0% benign(0.395) tolerated(0.45) neutral(0.139) NULL NYAP2 57624 genome.wustl.edu 37 2 226447149 226447149 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020864.1 +1 validated p.F339C 1.000 46 0% 43 30.2% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL NYAP2 57624 genome.wustl.edu 37 2 226447216 226447216 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020864.1 +1 validated p.T361 0.012 27 0% 25 24% 0 - - - - NULL COL4A4 1286 genome.wustl.edu 37 2 227872864 227872864 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000092.4 -1 reviewed p.R1560H 0.096 22 0% 25 28% 0 - unknown(0) tolerated(0.1) - HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like WDR69 164781 genome.wustl.edu 37 2 228754597 228754597 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178821.1 +1 provisional p.E47* 1.000 101 0% 76 22.4% 0 - - - - superfamily_WD40 repeat-like SPHKAP 80309 genome.wustl.edu 37 2 228881353 228881353 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142644.1 -1 validated p.S1406F 0.001 140 0% 117 25.6% 0 - possibly_damaging(0.887) tolerated(0.2) neutral(0.396) NULL SPHKAP 80309 genome.wustl.edu 37 2 228884290 228884290 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142644.1 -1 validated p.S427Y 0.000 113 0% 69 21.7% 0 - benign(0.139) deleterious(0) neutral(0.457) NULL SPHKAP 80309 genome.wustl.edu 37 2 228973649 228973649 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142644.1 -1 validated p.R49C 0.987 178 0% 106 29.2% 0 - benign(0.078) tolerated(0.22) neutral(0.048) NULL PID1 55022 genome.wustl.edu 37 2 229890494 229890494 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017933.4 -1 validated p.E201K 1.000 144 0% 141 29.8% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) superfamily_SSF50729 DNER 92737 genome.wustl.edu 37 2 230282898 230282898 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139072.3 -1 validated p.A512V 0.038 89 0% 71 32.4% 5 60% benign(0) tolerated(0.09) neutral(0.296) HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_CA,superfamily_SSF57196 DNER 92737 genome.wustl.edu 37 2 230456319 230456319 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139072.3 -1 validated p.E188* 0.945 71 0% 82 31.7% 4 0% - - - NULL TRIP12 9320 genome.wustl.edu 37 2 230664097 230664097 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004238.1 -1 provisional p.R995Q 1.000 86 0% 61 24.6% 21 47.6% possibly_damaging(0.936) tolerated(0.15) deleterious(0.623) NULL TRIP12 9320 genome.wustl.edu 37 2 230724169 230724169 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004238.1 -1 provisional p.R74C 1.000 289 0% 291 29.6% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC16A14 151473 genome.wustl.edu 37 2 230902145 230902145 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152527.4 -1 validated p.R495Q 0.251 94 0% 71 32.4% 1 0% benign(0) tolerated(0.55) neutral(0.007) NULL SP100 6672 genome.wustl.edu 37 2 231307662 231307662 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080391.1 +1 validated p.E40* 0.012 210 0% 193 17.1% 8 37.5% - - - NULL SP100 6672 genome.wustl.edu 37 2 231309042 231309042 + Silent SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080391.1 +1 validated p.I140 0.000 290 0% 279 31.2% 19 10.5% - - - HMMPfam_Sp100 SP100 6672 genome.wustl.edu 37 2 231314372 231314372 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080391.1 +1 validated p.S228L 0.001 181 0% 192 34.4% 15 26.6% benign(0.023) tolerated(0.17) neutral(0.060) NULL SNORD82 25826 genome.wustl.edu 37 2 232325122 232325122 + RNA SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_004398.1 -1 provisional NULL 1.000 379 0% 467 32.5% 0 - - - - - NMUR1 10316 genome.wustl.edu 37 2 232392963 232392963 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006056.4 -1 validated p.R257* 1.000 50 0% 48 37.5% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 ALPPL2 251 genome.wustl.edu 37 2 233271828 233271828 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031313.2 +1 reviewed p.K43N 0.992 52 0% 45 24.4% 5 20% benign(0.332) deleterious(0.01) deleterious(0.510) superfamily_Alkaline_phosphatase_core EFHD1 80303 genome.wustl.edu 37 2 233546356 233546356 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025202.3 +1 validated p.R216Q 0.997 310 0% 393 29% 3 66.6% possibly_damaging(0.884) deleterious(0.02) deleterious(0.728) NULL GIGYF2 26058 genome.wustl.edu 37 2 233651952 233651952 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001103147.1 +1 reviewed p.E231* 1.000 116 0% 91 26.4% 5 0% - - - NULL GIGYF2 26058 genome.wustl.edu 37 2 233655832 233655832 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001103147.1 +1 reviewed p.D371N 0.998 282 0% 283 30% 3 0% possibly_damaging(0.895) tolerated(0.3) neutral(0.382) NULL INPP5D 3635 genome.wustl.edu 37 2 233925237 233925237 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000359570 +1 known p.E17* 1.000 40 0% 40 35% 1 0% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain DGKD 8527 genome.wustl.edu 37 2 234346115 234346115 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152879.2 +1 reviewed p.I304 0.987 57 0% 51 39.2% 1 0% - - - NULL DGKD 8527 genome.wustl.edu 37 2 234350612 234350612 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152879.2 +1 reviewed p.E389K 1.000 132 0% 115 27.8% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DAGK_cat,HMMSmart_SM00046 DGKD 8527 genome.wustl.edu 37 2 234365629 234365629 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152879.2 +1 reviewed p.K820N 1.000 128 0% 122 14.8% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) HMMPfam_DAGK_acc,HMMSmart_SM00045 USP40 55230 genome.wustl.edu 37 2 234399886 234399886 + Missense_Mutation SNP G G A rs188487360 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018218.2 -1 validated p.A991V 0.000 33 0% 24 37.5% 14 14.2% benign(0.001) deleterious(0) neutral(0.445) NULL UGT1A10 54575 genome.wustl.edu 37 2 234545486 234545486 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019075.2 +1 reviewed p.F106 0.000 430 0% 348 26.1% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A9 54600 genome.wustl.edu 37 2 234581002 234581002 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021027.2 +1 reviewed p.S141Y 0.011 403 0% 497 34.8% 0 - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A6 54578 genome.wustl.edu 37 2 234602187 234602187 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001072.3 +1 reviewed p.E179 0.040 347 0% 388 29.9% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A4 54657 genome.wustl.edu 37 2 234627598 234627598 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007120.2 +1 reviewed p.M44I 1.000 85 0% 82 31.7% 0 - benign(0.048) tolerated(0.33) neutral(0.027) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A1 54658 genome.wustl.edu 37 2 234669542 234669542 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000463.2 +1 reviewed p.H203Q 0.946 289 0% 234 32.5% 0 - benign(0) tolerated(0.65) neutral(0.003) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase TRPM8 79054 genome.wustl.edu 37 2 234839348 234839348 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024080.4 +1 validated p.K51 1.000 226 0% 204 33.3% 0 - - - - NULL TRPM8 79054 genome.wustl.edu 37 2 234891812 234891812 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024080.4 +1 validated p.S902L 0.996 213 0% 210 35.2% 1 0% possibly_damaging(0.937) deleterious(0.01) deleterious(0.788) HMMPfam_Ion_trans AGAP1 116987 genome.wustl.edu 37 2 236653450 236653450 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037131.1 +1 validated p.S169G 0.032 87 0% 78 34.6% 6 66.6% benign(0) tolerated(0.31) neutral(0.027) HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Miro,superfamily_P-loop containing nucleoside triphosphate hydrolases IQCA1 79781 genome.wustl.edu 37 2 237240133 237240133 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024726.3 -1 provisional p.E748K 0.208 146 0.7% 141 29.8% 0 - benign(0.03) tolerated(0.59) neutral(0.006) superfamily_P-loop containing nucleoside triphosphate hydrolases COL6A3 1293 genome.wustl.edu 37 2 238253394 238253394 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004369.3 -1 reviewed p.D2423Y 0.703 190 0% 154 31.8% 158 0.6% probably_damaging(0.999) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238275575 238275575 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004369.3 -1 reviewed p.G1752E 0.999 108 0% 145 31.7% 67 0% unknown(0) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238277647 238277647 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004369.3 -1 reviewed p.E1487K 0.974 121 0% 139 15.1% 43 0% unknown(0) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238303380 238303380 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004369.3 -1 reviewed p.E187* 0.996 103 0% 97 20.6% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like RAB17 64284 genome.wustl.edu 37 2 238494686 238494686 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022449.3 -1 validated p.R38W 1.000 74 0% 53 35.8% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 RBM44 375316 genome.wustl.edu 37 2 238726387 238726387 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080504.2 +1 validated p.D276 0.000 80 0% 102 33.3% 0 - - - - NULL RBM44 375316 genome.wustl.edu 37 2 238726664 238726664 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080504.2 +1 validated p.E369* 0.019 203 0% 193 31.1% 0 - - - - NULL RBM44 375316 genome.wustl.edu 37 2 238729815 238729815 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080504.2 +1 validated p.H673R 0.000 89 0% 80 27.5% 0 - benign(0.178) tolerated(0.43) neutral(0.030) NULL ILKAP 80895 genome.wustl.edu 37 2 239092296 239092296 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030768.2 -1 reviewed p.R238W 1.000 62 0% 90 11.1% 54 18.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C TRAF3IP1 26146 genome.wustl.edu 37 2 239237613 239237613 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015650.3 +1 validated p.R182Q 0.000 23 0% 25 32% 6 66.6% benign(0) tolerated(0.38) neutral(0.018) HMMPfam_MIP-T3 TRAF3IP1 26146 genome.wustl.edu 37 2 239261552 239261552 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015650.3 +1 validated p.E512D 0.750 443 0% 353 27.2% 15 40% possibly_damaging(0.942) tolerated(0.34) neutral(0.410) HMMPfam_MIP-T3 HDAC4 9759 genome.wustl.edu 37 2 240085556 240085556 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006037.3 -1 reviewed p.A185V 0.999 37 0% 34 44.1% 0 - probably_damaging(0.992) deleterious(0.05) deleterious(0.793) NULL OR6B2 389090 genome.wustl.edu 37 2 240969277 240969277 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005853.1 -1 provisional p.T190 0.002 77 0% 77 32.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MYEOV2 150678 genome.wustl.edu 37 2 241066189 241066189 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138336.1 -1 validated p.N184H 0.000 219 0% 203 31% 0 - unknown(0) - - NULL ANKMY1 51281 genome.wustl.edu 37 2 241452248 241452248 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016552.2 -1 validated p.D617N 0.961 16 0% 20 35% 2 100% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) superfamily_Ankyrin repeat CAPN10 11132 genome.wustl.edu 37 2 241534461 241534461 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023083.2 +1 reviewed p.R340W 0.490 43 0% 23 21.7% 4 25% probably_damaging(0.965) tolerated(0.06) deleterious(0.730) HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III) AQP12A 375318 genome.wustl.edu 37 2 241631644 241631644 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198998.1 +1 provisional p.E93* 0.465 37 0% 24 33.3% 1 0% - - - superfamily_MIP AGXT 189 genome.wustl.edu 37 2 241808766 241808766 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000030.2 +1 reviewed p.I115 0.923 16 0% 11 45.5% 0 - - - - HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases AGXT 189 genome.wustl.edu 37 2 241813437 241813437 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000030.2 +1 reviewed p.A213V 0.030 68 0% 56 39.3% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases,PatternScan_AA_TRANSFER_CLASS_5 SNED1 25992 genome.wustl.edu 37 2 241992584 241992584 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080437.1 +1 provisional p.P700T 0.029 22 0% 19 31.6% 0 - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ANO7 50636 genome.wustl.edu 37 2 242147019 242147019 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001891.3 +1 validated p.F391 0.000 110 0% 104 27.9% 0 - - - - NULL HDLBP 3069 genome.wustl.edu 37 2 242196123 242196123 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005336.3 -1 validated p.K183N 0.909 117 0% 134 33.6% 115 40.8% possibly_damaging(0.868) deleterious(0.01) deleterious(0.743) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 CXXC11 285093 genome.wustl.edu 37 2 242815140 242815140 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173821.2 +1 validated p.V478A 0.011 17 0% 19 21.1% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL LOC728323 728323 genome.wustl.edu 37 2 243064522 243064522 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_024437.1 +1 validated NULL 0.991 68 0% 49 24.5% 2 0% - - - - CHL1 10752 genome.wustl.edu 37 3 361529 361529 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006614.2 +1 reviewed p.A24T 0.730 48 0% 26 26.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CHL1 10752 genome.wustl.edu 37 3 403417 403417 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006614.2 +1 reviewed p.N448H 0.001 202 0% 163 23.3% 0 - benign(0) tolerated(0.1) neutral(0.286) HMMSmart_SM00409,superfamily_Immunoglobulin CNTN6 27255 genome.wustl.edu 37 3 1269521 1269521 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014461.2 +1 reviewed p.D68Y 0.980 289 0% 198 27.3% 0 - possibly_damaging(0.679) deleterious(0.03) deleterious(0.607) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CNTN6 27255 genome.wustl.edu 37 3 1414032 1414032 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014461.2 +1 reviewed p.G514 0.001 143 0% 134 32.8% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CNTN6 27255 genome.wustl.edu 37 3 1415682 1415682 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014461.2 +1 reviewed p.R674C 1.000 123 0% 136 30.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CNTN4 152330 genome.wustl.edu 37 3 3084756 3084756 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175607.1 +1 reviewed p.G869 1.000 110 0% 103 32% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III IL5RA 3568 genome.wustl.edu 37 3 3116538 3116538 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000564.3 -1 reviewed p.W368* 1.000 70 0% 66 24.2% 0 - - - - NULL IL5RA 3568 genome.wustl.edu 37 3 3139858 3139858 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000564.3 -1 reviewed p.D162Y 0.006 110 0% 123 32.5% 0 - probably_damaging(0.97) deleterious(0.04) deleterious(0.761) HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2,superfamily_Fibronectin type III TRNT1 51095 genome.wustl.edu 37 3 3189241 3189241 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182916.2 +1 validated p.D304N 1.000 253 0% 163 30.7% 7 14.2% benign(0.002) tolerated(0.25) neutral(0.037) superfamily_Poly A polymerase C-terminal region-like LRRN1 57633 genome.wustl.edu 37 3 3888421 3888421 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020873.5 +1 validated p.S699Y 0.327 106 0% 112 30.4% 0 - possibly_damaging(0.437) deleterious(0.01) deleterious(0.548) NULL SUMF1 285362 genome.wustl.edu 37 3 4403847 4403847 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182760.3 -1 reviewed p.R369H 0.718 90 0% 104 27.9% 16 25% benign(0.008) tolerated(0.19) neutral(0.050) NULL ITPR1 3708 genome.wustl.edu 37 3 4687308 4687308 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099952.2 +1 reviewed p.L251I 1.000 80 0% 69 31.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 ITPR1 3708 genome.wustl.edu 37 3 4706873 4706873 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099952.2 +1 reviewed p.L536F 1.000 141 0% 163 34.4% 0 - benign(0.115) tolerated(0.05) neutral(0.354) HMMPfam_RYDR_ITPR,superfamily_IP3 receptor type 1 binding core domain 2 ITPR1 3708 genome.wustl.edu 37 3 4716885 4716885 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099952.2 +1 reviewed p.A911V 0.934 136 0% 152 27% 0 - benign(0.004) tolerated(0.28) neutral(0.032) NULL ITPR1 3708 genome.wustl.edu 37 3 4730241 4730241 + Silent SNP C C T rs140402012 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099952.2 +1 reviewed p.C1246 0.476 379 0% 314 30.3% 0 - - - - HMMPfam_RYDR_ITPR ITPR1 3708 genome.wustl.edu 37 3 4738854 4738854 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099952.2 +1 reviewed p.F1426 1.000 34 0% 36 27.8% 1 0% - - - NULL GRM7 2917 genome.wustl.edu 37 3 7494303 7494303 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181874.2 +1 reviewed p.R395I 1.000 157 0% 166 27.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_ANF_receptor,superfamily_SSF53822 SETD5 55209 genome.wustl.edu 37 3 9477583 9477583 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080517.1 +1 provisional p.K187R 1.000 47 0% 53 32.1% 4 75% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SETD5 55209 genome.wustl.edu 37 3 9495424 9495424 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080517.1 +1 provisional p.R783H 1.000 177 0% 123 30.9% 15 20% possibly_damaging(0.542) deleterious(0) deleterious(0.628) NULL RPUSD3 285367 genome.wustl.edu 37 3 9883636 9883636 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000433555 -1 known p.S88I 0.000 228 0% 213 28.6% 8 25% possibly_damaging(0.574) - - NULL IL17RC 84818 genome.wustl.edu 37 3 9960203 9960203 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153461.2 +1 reviewed p.V196 0.861 80 0% 60 26.7% 16 12.5% - - - NULL CRELD1 78987 genome.wustl.edu 37 3 9985694 9985694 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031717.3 +1 reviewed p.A386G 0.000 216 0% 138 29% 0 - benign(0.041) tolerated(0.25) neutral(0.040) NULL FANCD2 2177 genome.wustl.edu 37 3 10123089 10123089 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000421731 +1 known p.T555I 0.773 399 0% 437 34.1% 16 68.7% - - - NULL IRAK2 3656 genome.wustl.edu 37 3 10283857 10283857 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001570.3 +1 reviewed p.N608T 0.932 117 0% 112 25% 0 - benign(0.099) deleterious(0.02) neutral(0.391) NULL TATDN2 9797 genome.wustl.edu 37 3 10312598 10312598 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014760.3 +1 validated p.N578H 0.997 221 0% 221 30.8% 26 34.6% benign(0.007) tolerated(0.13) neutral(0.253) HMMPfam_TatD_DNase,superfamily_SSF51556 GHRLOS2 84657 genome.wustl.edu 37 3 10327344 10327344 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_026829.1 +1 validated NULL 0.016 26 0% 29 27.6% 0 - - - - - SLC6A11 6538 genome.wustl.edu 37 3 10885930 10885930 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014229.1 +1 provisional p.E219K 1.000 41 0% 38 23.7% 0 - benign(0.054) deleterious(0.03) neutral(0.368) HMMPfam_SNF SLC6A11 6538 genome.wustl.edu 37 3 10960060 10960060 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014229.1 +1 provisional p.A348S 1.000 103 0% 114 34.2% 0 - possibly_damaging(0.575) tolerated(0.18) neutral(0.253) HMMPfam_SNF SLC6A11 6538 genome.wustl.edu 37 3 10974903 10974903 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014229.1 +1 provisional p.A480T 1.000 160 0% 143 30.1% 0 - probably_damaging(0.988) tolerated(0.1) deleterious(0.724) HMMPfam_SNF ATG7 10533 genome.wustl.edu 37 3 11374534 11374534 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006395.2 +1 validated p.E286K 1.000 86 0% 93 22.6% 14 28.5% benign(0.001) tolerated(0.11) neutral(0.272) NULL SYN2 6854 genome.wustl.edu 37 3 12224815 12224815 + Frame_Shift_Del DEL G G - novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000341648 +1 known p.G369fs 0.998 - - - - - - - - - NULL TSEN2 80746 genome.wustl.edu 37 3 12560645 12560645 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145392.1 +1 reviewed p.R350* 1.000 235 0% 208 28.8% 6 0% - - - HMMPfam_tRNA_int_endo,superfamily_tRNA-intron endonuclease catalytic domain-like TMEM40 55287 genome.wustl.edu 37 3 12778262 12778262 + Splice_Site SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018306.2 -1 provisional e8+1 1.000 204 0% 198 33.3% 0 - - - - - IQSEC1 9922 genome.wustl.edu 37 3 12966083 12966083 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000450726 -1 known p.R591* 0.767 25 0% 22 45.5% 3 66.6% - - - HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain NUP210 23225 genome.wustl.edu 37 3 13364836 13364836 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024923.2 -1 reviewed p.V1581M 0.008 220 0% 222 25.7% 18 27.7% possibly_damaging(0.644) tolerated(0.09) deleterious(0.522) NULL NUP210 23225 genome.wustl.edu 37 3 13429929 13429929 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024923.2 -1 reviewed p.T186 0.002 51 0% 47 23.4% 4 50% - - - NULL FGD5 152273 genome.wustl.edu 37 3 14862049 14862049 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152536.3 +1 validated p.G491S 0.998 44 0% 53 34% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FGD5 152273 genome.wustl.edu 37 3 14862525 14862525 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152536.3 +1 validated p.K649N 1.000 146 0% 170 31.2% 3 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL NR2C2 7182 genome.wustl.edu 37 3 15065707 15065707 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003298.3 +1 validated p.D283N 1.000 199 0% 165 24.8% 3 0% probably_damaging(0.99) tolerated(0.29) deleterious(0.471) superfamily_Nuclear receptor ligand-binding domain ZFYVE20 64145 genome.wustl.edu 37 3 15137504 15137504 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022340.2 -1 validated p.R42C 0.999 134 0% 118 33.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SH3BP5 9467 genome.wustl.edu 37 3 15300449 15300449 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004844.3 -1 validated p.R260W 1.000 79 0% 58 31% 17 17.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH3BP5 COLQ 8292 genome.wustl.edu 37 3 15563081 15563081 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005677.3 -1 reviewed p.L18I 0.998 139 0% 123 22.8% 0 - unknown(0) - - NULL ANKRD28 23243 genome.wustl.edu 37 3 15720871 15720871 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015199.2 -1 provisional p.A803V 1.000 424 0.2% 295 33.9% 11 0% benign(0) tolerated(0.58) neutral(0.005) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD28 23243 genome.wustl.edu 37 3 15836768 15836768 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015199.2 -1 provisional p.R25* 1.000 199 0% 147 54.4% 3 100% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat GALNTL2 117248 genome.wustl.edu 37 3 16252734 16252734 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_054110.4 +1 validated p.E395K 1.000 75 0% 64 25% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53448 RFTN1 23180 genome.wustl.edu 37 3 16358557 16358557 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015150.1 -1 validated p.S505 0.000 123 0% 116 30.2% 17 0% - - - NULL PLCL2 23228 genome.wustl.edu 37 3 17052089 17052089 + Silent SNP C C T rs184972109 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000419842 +1 known p.S35L 1.000 218 0% 185 32.4% 2 0% - - - HMMPfam_efhand_like,superfamily_EF-hand PLCL2 23228 genome.wustl.edu 37 3 17052328 17052328 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015184.5 +1 validated p.R371H 1.000 137 0% 101 34.7% 1 0% benign(0.182) tolerated(0.11) neutral(0.288) HMMPfam_PI-PLC-X,HMMSmart_PLCXc,superfamily_PLC-like_Pdiesterase_TIM-brl PLCL2 23228 genome.wustl.edu 37 3 17052335 17052335 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000419842 +1 known p.S117* 1.000 139 0% 104 28.8% 1 0% - - - HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases PLCL2 23228 genome.wustl.edu 37 3 17131230 17131230 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015184.5 +1 validated p.Q944H 0.999 298 0% 243 30.9% 1 0% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL TBC1D5 9779 genome.wustl.edu 37 3 17226618 17226618 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134381.1 -1 validated p.V634A 1.000 138 0% 135 25.2% 7 71.4% benign(0.023) tolerated(0.2) neutral(0.050) NULL SATB1 6304 genome.wustl.edu 37 3 18390688 18390688 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001131010.1 -1 validated p.D756Y 1.000 206 0% 169 30.8% 3 0% possibly_damaging(0.496) deleterious(0) deleterious(0.610) NULL SATB1 6304 genome.wustl.edu 37 3 18391112 18391112 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001131010.1 -1 validated p.P614 0.085 44 0% 39 33.3% 5 0% - - - NULL SATB1 6304 genome.wustl.edu 37 3 18436040 18436040 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001131010.1 -1 validated p.E374K 1.000 256 0% 238 39.5% 5 0% benign(0.141) deleterious(0.01) neutral(0.418) HMMPfam_CUT KCNH8 131096 genome.wustl.edu 37 3 19498286 19498286 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144633.2 +1 reviewed p.L618I 1.000 271 0% 158 32.9% 0 - benign(0.076) tolerated(0.84) neutral(0.006) HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding KCNH8 131096 genome.wustl.edu 37 3 19574993 19574993 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144633.2 +1 reviewed p.S909Y 0.994 261 0% 183 27.9% 0 - benign(0.355) tolerated(0.05) neutral(0.458) NULL EFHB 151651 genome.wustl.edu 37 3 19938247 19938247 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144715.3 -1 validated p.H553Y 0.930 127 0% 127 28.3% 0 - benign(0.02) deleterious(0.04) neutral(0.350) NULL EFHB 151651 genome.wustl.edu 37 3 19975280 19975280 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144715.3 -1 validated p.Q77H 0.007 283 0.4% 263 10.6% 0 - benign(0) tolerated(0.3) neutral(0.029) NULL KAT2B 8850 genome.wustl.edu 37 3 20187848 20187848 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003884.4 +1 reviewed p.R682Q 1.000 552 0% 543 30.9% 8 62.5% benign(0.114) tolerated(0.94) neutral(0.009) NULL UBE2E2 7325 genome.wustl.edu 37 3 23258752 23258752 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152653.3 +1 validated e2-1 1.000 166 1.2% 127 22% 0 - - - - - THRB 7068 genome.wustl.edu 37 3 24185133 24185133 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000461.4 -1 reviewed p.R199 0.933 160 0% 145 38.6% 0 - - - - superfamily_Glucocorticoid receptor-like (DNA-binding domain) THRB 7068 genome.wustl.edu 37 3 24231725 24231725 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000461.4 -1 reviewed p.S41 0.998 148 0% 115 28.7% 0 - - - - NULL NGLY1 55768 genome.wustl.edu 37 3 25781264 25781264 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018297.3 -1 reviewed p.L229I 1.000 231 0% 220 27.3% 7 42.8% possibly_damaging(0.946) tolerated(0.23) neutral(0.431) NULL NGLY1 55768 genome.wustl.edu 37 3 25805679 25805679 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018297.3 -1 reviewed p.S124P 0.100 252 0.4% 225 32.4% 15 33.3% possibly_damaging(0.684) tolerated(0.19) neutral(0.293) NULL LRRC3B 116135 genome.wustl.edu 37 3 26751412 26751412 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052953.2 +1 provisional p.I83M 1.000 195 0% 204 34.3% 0 - possibly_damaging(0.56) deleterious(0.02) deleterious(0.574) HMMPfam_LRR_1,superfamily_SSF52058 LRRC3B 116135 genome.wustl.edu 37 3 26751473 26751473 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052953.2 +1 provisional p.D104N 0.999 184 0% 189 36.5% 0 - possibly_damaging(0.741) tolerated(0.1) deleterious(0.558) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 NEK10 152110 genome.wustl.edu 37 3 27216204 27216204 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000396636 -1 known p.E876K 0.993 176 0% 152 15.1% 0 - possibly_damaging(0.601) tolerated(0.12) deleterious(0.469) NULL SLC4A7 9497 genome.wustl.edu 37 3 27442293 27442293 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003615.3 -1 validated p.T788A 0.092 244 0% 187 41.7% 0 - benign(0.002) tolerated(0.2) neutral(0.049) HMMPfam_HCO3_cotransp ZCWPW2 152098 genome.wustl.edu 37 3 28476733 28476733 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000419130 +1 known p.R7C 0.509 124 0% 111 34.2% 0 - - - - NULL GADL1 339896 genome.wustl.edu 37 3 30842521 30842521 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207359.2 -1 validated p.F370L 1.000 146 0% 130 33.1% 0 - possibly_damaging(0.68) tolerated(0.69) neutral(0.244) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases OSBPL10 114884 genome.wustl.edu 37 3 31921248 31921248 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017784.4 -1 reviewed p.R119Q 0.996 226 0% 218 28.9% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 CNOT10 25904 genome.wustl.edu 37 3 32778971 32778971 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015442.1 +1 provisional p.L528F 1.000 74 0% 78 33.3% 29 58.6% benign(0.001) tolerated(0.19) neutral(0.050) NULL TRIM71 131405 genome.wustl.edu 37 3 32915329 32915329 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039111.1 +1 provisional p.D291G 1.000 401 0.2% 407 28.3% 0 - possibly_damaging(0.623) tolerated(0.09) deleterious(0.513) HMMPfam_zf-B_box,HMMSmart_BBOX TRIM71 131405 genome.wustl.edu 37 3 32932414 32932414 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039111.1 +1 provisional p.N573S 1.000 31 0% 38 26.3% 0 - benign(0.019) tolerated(0.14) neutral(0.251) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin CCR4 1233 genome.wustl.edu 37 3 32995445 32995445 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005508.4 +1 reviewed p.T177 0.002 100 0% 117 37.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GLB1 2720 genome.wustl.edu 37 3 33055619 33055619 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000404.2 -1 reviewed p.N555D 0.983 77 0% 81 29.6% 110 42.7% possibly_damaging(0.553) tolerated(0.23) neutral(0.230) NULL SUSD5 26032 genome.wustl.edu 37 3 33255583 33255583 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015551.1 -1 validated p.L43 0.942 52 0% 72 36.1% 0 - - - - HMMPfam_Xlink,HMMSmart_LINK,superfamily_C-type_lectin_fold FBXL2 25827 genome.wustl.edu 37 3 33339438 33339438 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000451636 +1 known p.D48G 1.000 17 0% 14 35.7% 0 - unknown(0) - - NULL UBP1 7342 genome.wustl.edu 37 3 33438562 33438562 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128161.1 -1 validated p.R416W 1.000 101 0% 115 30.4% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SAM/Pointed domain TRANK1 9881 genome.wustl.edu 37 3 36874624 36874624 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014831.2 -1 provisional p.E1556D 1.000 130 0% 76 26.3% 0 - benign(0) tolerated(0.39) neutral(0.016) NULL TRANK1 9881 genome.wustl.edu 37 3 36898642 36898642 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014831.2 -1 provisional p.K263N 0.999 335 0% 307 33.6% 0 - benign(0.009) deleterious(0) neutral(0.445) NULL LRRFIP2 9209 genome.wustl.edu 37 3 37125157 37125157 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006309.2 -1 validated p.E416D 1.000 291 0% 208 29.3% 20 40% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_DUF2051 LRRFIP2 9209 genome.wustl.edu 37 3 37138119 37138119 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006309.2 -1 validated p.E302D 1.000 65 0% 82 31.7% 23 56.5% benign(0.01) tolerated(0.39) neutral(0.017) HMMPfam_DUF2051 GOLGA4 2803 genome.wustl.edu 37 3 37363264 37363264 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002078.4 +1 reviewed p.E530* 1.000 204 0% 192 37% 0 - - - - NULL GOLGA4 2803 genome.wustl.edu 37 3 37365198 37365198 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002078.4 +1 reviewed p.V607 0.984 158 0% 157 31.2% 8 12.5% - - - NULL GOLGA4 2803 genome.wustl.edu 37 3 37365969 37365969 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002078.4 +1 reviewed p.Q864 0.040 282 0% 221 30.8% 4 100% - - - NULL GOLGA4 2803 genome.wustl.edu 37 3 37366090 37366090 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002078.4 +1 reviewed p.I905L 0.000 199 0% 212 34% 1 0% benign(0) tolerated(0.93) - NULL GOLGA4 2803 genome.wustl.edu 37 3 37367855 37367855 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002078.4 +1 reviewed p.K1493T 0.000 302 0% 297 32% 5 20% possibly_damaging(0.882) tolerated(0.18) neutral(0.400) NULL GOLGA4 2803 genome.wustl.edu 37 3 37368996 37368996 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002078.4 +1 reviewed p.E1873D 0.015 371 0% 390 33.3% 10 0% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL VILL 50853 genome.wustl.edu 37 3 38048170 38048170 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015873.3 +1 reviewed p.G812 0.908 102 0% 90 36.7% 1 100% - - - superfamily_VHP Villin headpiece domain DLEC1 9940 genome.wustl.edu 37 3 38104098 38104098 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007337.2 +1 reviewed p.N300 0.000 109 0% 162 17.3% 0 - - - - NULL DLEC1 9940 genome.wustl.edu 37 3 38104255 38104255 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007337.2 +1 reviewed p.P353S 0.000 131 0% 151 23.8% 0 - benign(0.002) tolerated(0.51) neutral(0.009) NULL XYLB 9942 genome.wustl.edu 37 3 38437043 38437043 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005108.3 +1 reviewed p.E447* 1.000 93 0% 78 32.1% 3 0% - - - HMMPfam_FGGY_C,superfamily_SSF53067 ACVR2B 93 genome.wustl.edu 37 3 38519422 38519422 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001106.3 +1 reviewed p.E111K 1.000 228 0% 164 30.5% 0 - benign(0.001) tolerated(0.53) neutral(0.007) HMMPfam_Activin_recp,superfamily_Snake toxin-like SCN5A 6331 genome.wustl.edu 37 3 38592490 38592490 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099404.1 -1 reviewed p.F1791 0.984 229 0% 162 28.4% 0 - - - - superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38595795 38595795 + Silent SNP G G A rs141789366 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099404.1 -1 reviewed p.F1596 0.997 161 0% 111 27% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38601752 38601752 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099404.1 -1 reviewed p.I1377 0.381 127 0% 83 19.3% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38627422 38627422 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099404.1 -1 reviewed p.I849 1.000 322 0% 268 31.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38649700 38649700 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099404.1 -1 reviewed p.Y314H 0.999 127 0% 77 28.6% 0 - benign(0.066) tolerated(0.26) neutral(0.038) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN10A 6336 genome.wustl.edu 37 3 38739975 38739975 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006514.2 -1 validated p.R1579Q 0.983 203 0% 250 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 SCN10A 6336 genome.wustl.edu 37 3 38797357 38797357 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006514.2 -1 validated p.R461 0.003 204 0% 225 31.1% 0 - - - - NULL SCN11A 11280 genome.wustl.edu 37 3 38904693 38904693 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014139.2 -1 validated p.R1350Q 1.000 184 0% 172 27.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Voltage-gated potassium channels SCN11A 11280 genome.wustl.edu 37 3 38927686 38927686 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014139.2 -1 validated p.R960I 0.014 163 0% 146 28.8% 0 - benign(0.003) tolerated(0.17) neutral(0.059) HMMPfam_Na_trans_assoc SCN11A 11280 genome.wustl.edu 37 3 38936386 38936386 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014139.2 -1 validated p.G825* 0.921 233 0% 161 27.3% 0 - - - - HMMPfam_Na_trans_assoc GORASP1 64689 genome.wustl.edu 37 3 39140258 39140258 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031899.2 -1 reviewed p.S348Y 0.995 128 0% 86 27.9% 22 40.9% possibly_damaging(0.901) deleterious(0) deleterious(0.801) HMMPfam_GRASP55_65 XIRP1 165904 genome.wustl.edu 37 3 39227032 39227032 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194293.2 -1 provisional p.R1302I 0.001 75 0% 54 16.7% 0 - possibly_damaging(0.801) deleterious(0.01) deleterious(0.707) NULL CCR8 1237 genome.wustl.edu 37 3 39374678 39374678 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005201.3 +1 reviewed p.E286* 0.030 136 0% 132 33.3% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MYRIP 25924 genome.wustl.edu 37 3 40211447 40211447 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015460.2 +1 validated p.R246* 0.996 105 0% 113 29.2% 0 - - - - NULL ZNF620 253639 genome.wustl.edu 37 3 40557900 40557900 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175888.2 +1 validated p.R272I 1.000 193 0% 232 31.9% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF621 285268 genome.wustl.edu 37 3 40573884 40573884 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098414.1 +1 validated p.E208A 0.009 184 0% 209 36.8% 1 100% probably_damaging(0.959) deleterious(0.04) deleterious(0.752) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CTNNB1 1499 genome.wustl.edu 37 3 41277291 41277291 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098209.1 +1 reviewed p.R587Q 1.000 312 0% 286 28.7% 366 40.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat CTNNB1 1499 genome.wustl.edu 37 3 41279564 41279564 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098209.1 +1 reviewed p.D712N 1.000 285 0% 264 27.7% 375 30.9% benign(0) tolerated(0.41) neutral(0.015) NULL ULK4 54986 genome.wustl.edu 37 3 41996207 41996207 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017886.2 -1 validated p.K15N 1.000 212 0% 183 27.9% 1 0% benign(0.007) tolerated(0.36) neutral(0.020) superfamily_Kinase_like,HMMPfam_Pkinase SEC22C 9117 genome.wustl.edu 37 3 42602660 42602660 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032970.2 -1 reviewed p.D159Y 0.876 245 0% 238 25.6% 38 36.8% possibly_damaging(0.918) deleterious(0.04) deleterious(0.718) NULL NKTR 4820 genome.wustl.edu 37 3 42681013 42681013 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005385.3 +1 reviewed p.R1273W 0.996 200 0% 202 33.2% 3 66.6% unknown(0) deleterious(0) - NULL ZBTB47 92999 genome.wustl.edu 37 3 42703063 42703063 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145166.3 +1 validated p.F144L 1.000 91 0% 68 30.9% 10 10% possibly_damaging(0.574) deleterious(0) deleterious(0.641) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZBTB47 92999 genome.wustl.edu 37 3 42703109 42703109 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145166.3 +1 validated p.R160C 1.000 68 0% 57 31.6% 8 12.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZBTB47 92999 genome.wustl.edu 37 3 42704541 42704541 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145166.3 +1 validated p.C177 0.792 144 0% 106 24.5% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CCDC13 152206 genome.wustl.edu 37 3 42771960 42771960 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144719.3 -1 validated p.R573W 1.000 54 0% 40 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF662 389114 genome.wustl.edu 37 3 42955845 42955845 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134656.1 +1 validated p.D120Y 0.634 99 0% 74 29.7% 0 - possibly_damaging(0.861) deleterious(0.03) deleterious(0.698) NULL ZNF662 389114 genome.wustl.edu 37 3 42956809 42956809 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134656.1 +1 validated p.P441H 0.764 142 0% 121 13.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_C2H2 and C2HC zinc fingers C3orf39 84892 genome.wustl.edu 37 3 43121725 43121725 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032806.4 -1 provisional p.N400S 1.000 41 0% 37 24.3% 32 62.5% probably_damaging(0.97) deleterious(0.04) deleterious(0.761) NULL C3orf23 285343 genome.wustl.edu 37 3 44441952 44441952 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173826.3 +1 validated p.E331* 0.995 174 0% 158 27.2% 6 0% - - - NULL ZNF445 353274 genome.wustl.edu 37 3 44491085 44491085 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181489.5 -1 validated p.S284F 1.000 83 0% 76 18.4% 0 - probably_damaging(0.998) tolerated(0.19) deleterious(0.524) HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF167 55888 genome.wustl.edu 37 3 44612398 44612398 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018651.2 +1 validated p.R599Q 0.937 188 0% 231 29.4% 2 100% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF660 285349 genome.wustl.edu 37 3 44636314 44636314 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173658.1 +1 provisional p.R210I 1.000 175 0% 227 31.7% 1 0% possibly_damaging(0.891) tolerated(0.06) deleterious(0.673) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF197 10168 genome.wustl.edu 37 3 44684193 44684193 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006991.3 +1 reviewed p.S524N 0.993 172 0% 177 29.4% 0 - probably_damaging(0.992) tolerated(0.74) neutral(0.449) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF197 10168 genome.wustl.edu 37 3 44684395 44684395 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006991.3 +1 reviewed p.K591N 1.000 141 0% 148 29.1% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_C2H2 and C2HC zinc fingers ZNF197 10168 genome.wustl.edu 37 3 44685100 44685100 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006991.3 +1 reviewed p.V826 0.999 142 0% 163 30.1% 3 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF502 91392 genome.wustl.edu 37 3 44763222 44763222 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134440.1 +1 validated p.R305* 0.033 347 0% 321 33.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF502 91392 genome.wustl.edu 37 3 44763742 44763742 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134440.1 +1 validated p.L478P 0.018 174 0% 189 36.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 KIF15 56992 genome.wustl.edu 37 3 44844445 44844445 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020242.2 +1 validated p.A550V 1.000 241 0% 255 32.5% 0 - benign(0.001) tolerated(0.11) neutral(0.272) NULL KIF15 56992 genome.wustl.edu 37 3 44867677 44867677 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020242.2 +1 validated p.L899R 0.958 171 0% 141 37.6% 3 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KIF15 56992 genome.wustl.edu 37 3 44879843 44879843 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020242.2 +1 validated p.S1083L 0.482 84 0% 90 33.3% 3 66.6% benign(0.119) tolerated(0.06) neutral(0.332) NULL TGM4 7047 genome.wustl.edu 37 3 44943135 44943135 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003241.3 +1 validated p.T259 0.000 25 0% 22 50% 0 - - - - superfamily_SSF54001 CLEC3B 7123 genome.wustl.edu 37 3 45077054 45077054 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003278.2 +1 validated p.L83 1.000 67 0% 60 36.7% 2 0% - - - HMMSmart_SM00034,superfamily_C-type lectin-like LARS2 23395 genome.wustl.edu 37 3 45527234 45527234 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015340.3 +1 reviewed p.P357S 1.000 232 0% 204 33.8% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ValRS_IleRS_edit,superfamily_SSF52374 FYCO1 79443 genome.wustl.edu 37 3 46003808 46003808 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024513.2 -1 validated p.R1116C 0.149 385 0% 287 30.7% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NBEAL2 23218 genome.wustl.edu 37 3 47030239 47030239 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015175.1 +1 validated p.E44 1.000 80 0% 66 34.8% 1 0% - - - NULL SETD2 29072 genome.wustl.edu 37 3 47098948 47098948 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014159.6 -1 reviewed p.R2109Q 1.000 123 0% 126 27.8% 9 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SETD2 29072 genome.wustl.edu 37 3 47127805 47127805 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014159.6 -1 reviewed e11-1 1.000 82 0% 67 38.8% 0 - - - - - KIF9 64147 genome.wustl.edu 37 3 47282434 47282434 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134878.1 -1 validated p.R594Q 1.000 160 0% 135 28.9% 2 50% probably_damaging(0.969) tolerated(0.43) neutral(0.425) NULL MAP4 4134 genome.wustl.edu 37 3 47957590 47957590 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002375.4 -1 reviewed p.V576G 0.002 390 0% 359 31.2% 70 35.7% unknown(0) deleterious(0) - NULL PLXNB1 5364 genome.wustl.edu 37 3 48451889 48451889 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130082.1 -1 validated p.R1832H 1.000 33 0% 24 33.3% 27 51.8% possibly_damaging(0.813) deleterious(0.01) deleterious(0.713) PatternScan_LIPOCALIN,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl UQCRC1 7384 genome.wustl.edu 37 3 48638130 48638130 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003365.2 -1 validated p.F370 1.000 134 0% 117 30.8% 623 45.7% - - - HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase UQCRC1 7384 genome.wustl.edu 37 3 48641675 48641675 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003365.2 -1 validated p.E206A 1.000 120 0% 152 28.9% 494 45.5% benign(0.002) tolerated(0.06) neutral(0.323) superfamily_LuxS/MPP-like metallohydrolase SLC26A6 65010 genome.wustl.edu 37 3 48663721 48663721 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022911.2 -1 reviewed p.F732S 1.000 34 0% 59 33.9% 21 52.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa SLC26A6 65010 genome.wustl.edu 37 3 48669454 48669454 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000455886 -1 known p.R169W 0.995 19 0% 23 26.1% 9 22.2% unknown(0) deleterious(0) - NULL CELSR3 1951 genome.wustl.edu 37 3 48696431 48696431 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001407.2 -1 reviewed p.G1213S 1.000 53 0% 54 27.8% 4 75% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SLC25A20 788 genome.wustl.edu 37 3 48921496 48921496 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000387.4 -1 reviewed p.A87V 1.000 69 0% 90 37.8% 11 9% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Mitoch_carrier,HMMPfam_Mito_carr WDR6 11180 genome.wustl.edu 37 3 49050826 49050826 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018031.3 +1 reviewed p.R650H 0.016 30 0% 30 36.7% 28 17.8% possibly_damaging(0.723) tolerated(0.14) deleterious(0.512) superfamily_WD40 repeat-like IMPDH2 3615 genome.wustl.edu 37 3 49061970 49061970 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000884.2 -1 reviewed p.T494M 1.000 79 0% 70 34.3% 260 41.9% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_IMPDH,superfamily_SSF51412 QARS 5859 genome.wustl.edu 37 3 49137863 49137863 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005051.1 -1 reviewed p.A335 0.972 53 0% 65 23.1% 173 41.6% - - - HMMPfam_tRNA-synt_1c,superfamily_SSF52374 USP19 10869 genome.wustl.edu 37 3 49147789 49147789 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006677.1 -1 provisional p.R1186H 1.000 53 0% 48 29.2% 50 34% probably_damaging(0.979) tolerated(0.29) neutral(0.451) HMMPfam_UCH,superfamily_Cysteine proteinases CCDC36 339834 genome.wustl.edu 37 3 49282143 49282143 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135197.1 +1 validated p.S170Y 1.000 66 0% 76 35.5% 1 0% possibly_damaging(0.861) tolerated(0.07) deleterious(0.652) NULL DAG1 1605 genome.wustl.edu 37 3 49569754 49569754 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004393.4 +1 reviewed p.A604T 0.123 97 0% 72 34.7% 75 50.6% benign(0.258) tolerated(0.52) neutral(0.036) HMMPfam_DAG1 RBM6 10180 genome.wustl.edu 37 3 50006056 50006056 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005777.2 +1 validated p.D400Y 1.000 177 0% 214 31.8% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SEMA3F 6405 genome.wustl.edu 37 3 50220902 50220902 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004186.3 +1 validated p.R380C 1.000 29 0% 19 47.4% 26 42.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema CACNA2D2 9254 genome.wustl.edu 37 3 50418438 50418438 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005505.1 -1 reviewed p.R258C 1.000 27 0% 31 22.6% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA_N DOCK3 1795 genome.wustl.edu 37 3 51266226 51266226 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004947.3 +1 validated p.I594 1.000 112 0% 107 27.1% 0 - - - - NULL ENSG00000250864 0 genome.wustl.edu 37 3 51431586 51431586 + RNA SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000506856 -1 novel NULL 0.547 22 0% 19 31.6% 73 36.9% - - - - VPRBP 9730 genome.wustl.edu 37 3 51457860 51457860 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014703.2 -1 validated p.R802Q 1.000 172 0% 191 28.8% 11 72.7% probably_damaging(0.976) tolerated(0.14) deleterious(0.667) HMMSmart_SM00667,HMMPfam_LisH VPRBP 9730 genome.wustl.edu 37 3 51517749 51517749 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014703.2 -1 validated p.V32 0.998 339 0% 350 30% 4 25% - - - NULL RAD54L2 23132 genome.wustl.edu 37 3 51669729 51669729 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000432863 +1 known p.E250K 1.000 69 1.4% 50 26% 1 0% - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD54L2 23132 genome.wustl.edu 37 3 51696692 51696692 + Silent SNP C C T rs142498948 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000432863 +1 known p.R1049W 0.963 47 0% 70 34.3% 0 - - - - NULL GRM2 2912 genome.wustl.edu 37 3 51746500 51746500 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000839.3 +1 reviewed p.L154 1.000 24 0% 38 15.8% 0 - - - - HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,superfamily_Periplasmic binding protein-like I GRM2 2912 genome.wustl.edu 37 3 51749695 51749695 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000839.3 +1 reviewed p.R636C 1.000 60 0% 85 23.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_3 GRM2 2912 genome.wustl.edu 37 3 51750015 51750015 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000839.3 +1 reviewed p.C742* 1.000 54 0% 84 26.2% 0 - - - - HMMPfam_7tm_3 IQCF2 389123 genome.wustl.edu 37 3 51897136 51897136 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203424.1 +1 validated p.S82L 0.000 142 0% 184 32.6% 0 - benign(0) tolerated(0.28) neutral(0.032) HMMSmart_IQ,superfamily_SSF52540 PARP3 10039 genome.wustl.edu 37 3 51978459 51978459 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003931.2 +1 reviewed p.K129N 1.000 62 0% 47 34% 12 58.3% probably_damaging(0.964) tolerated(0.5) neutral(0.416) HMMPfam_WGR,HMMSmart_WGR ALAS1 211 genome.wustl.edu 37 3 52233336 52233336 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000688.4 +1 validated p.L27 0.998 96 0% 85 35.3% 75 41.3% - - - NULL DNAH1 25981 genome.wustl.edu 37 3 52428537 52428537 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015512.4 +1 validated p.P3561 0.971 38 0% 36 41.7% 0 - - - - HMMPfam_Dynein_heavy GNL3 26354 genome.wustl.edu 37 3 52727264 52727264 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014366.4 +1 validated p.A369D 1.000 165 0% 146 39% 47 25.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITIH3 3699 genome.wustl.edu 37 3 52842604 52842604 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002217.3 +1 validated p.I860 0.000 107 0% 95 25.3% 0 - - - - HMMPfam_ITI_HC_C ITIH4 3700 genome.wustl.edu 37 3 52848017 52848017 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000441637 -1 known p.S688P 0.320 14 0% 19 26.3% 0 - - - - HMMPfam_ITI_HC_C SFMBT1 51460 genome.wustl.edu 37 3 52945192 52945192 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005158.1 -1 reviewed p.Y578S 1.000 84 0% 100 34% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RFT1 91869 genome.wustl.edu 37 3 53155781 53155781 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052859.3 -1 reviewed p.S164 0.001 59 0% 61 37.7% 14 21.4% - - - HMMPfam_Rft-1 CACNA1D 776 genome.wustl.edu 37 3 53837585 53837585 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000720.2 +1 validated p.S1877 0.994 136 0% 102 32.4% 2 0% - - - NULL IL17RB 55540 genome.wustl.edu 37 3 53899087 53899087 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018725.3 +1 reviewed p.D421Y 1.000 151 0% 132 27.3% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SEFIR CACNA2D3 55799 genome.wustl.edu 37 3 54786663 54786663 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018398.2 +1 reviewed p.A402V 0.997 35 0% 38 34.2% 2 100% benign(0.406) deleterious(0.02) deleterious(0.514) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like CACNA2D3 55799 genome.wustl.edu 37 3 54933871 54933871 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018398.2 +1 reviewed p.E809* 1.000 45 0% 25 20% 0 - - - - NULL LRTM1 57408 genome.wustl.edu 37 3 54959101 54959101 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020678.2 -1 provisional p.P50H 1.000 104 0% 101 23.8% 0 - benign(0.346) tolerated(0.26) neutral(0.144) superfamily_L domain-like CACNA2D3 55799 genome.wustl.edu 37 3 55021716 55021716 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018398.2 +1 reviewed p.D876Y 1.000 47 0% 46 23.9% 0 - benign(0.027) tolerated(0.06) neutral(0.324) NULL ERC2 26059 genome.wustl.edu 37 3 55733440 55733440 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015576.1 -1 validated p.S938L 1.000 422 0% 471 30.8% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL ERC2 26059 genome.wustl.edu 37 3 55922477 55922477 + Missense_Mutation SNP G G A rs138285241 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015576.1 -1 validated p.A835V 0.981 421 0% 353 29.2% 0 - benign(0.018) tolerated(0.28) neutral(0.032) HMMPfam_Cast ERC2 26059 genome.wustl.edu 37 3 56114904 56114904 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015576.1 -1 validated p.R528C 1.000 83 0% 100 31% 0 - probably_damaging(0.985) tolerated(0.09) deleterious(0.728) superfamily_Prefoldin,HMMPfam_Cast ERC2 26059 genome.wustl.edu 37 3 56468515 56468515 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015576.1 -1 validated p.K174T 1.000 629 0% 598 29.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Cast CCDC66 285331 genome.wustl.edu 37 3 56651313 56651313 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001141947.1 +1 validated p.E673* 1.000 177 0% 131 32.1% 0 - - - - NULL FAM208A 23272 genome.wustl.edu 37 3 56658665 56658665 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001112736.1 -1 validated p.N1442S 0.141 136 0% 92 32.6% 16 43.7% benign(0) tolerated(0.62) neutral(0.004) NULL ASB14 142686 genome.wustl.edu 37 3 57310733 57310733 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142733.2 -1 reviewed p.L373V 0.030 93 0% 81 42% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_SOCS_box,HMMSmart_SM00253 ASB14 142686 genome.wustl.edu 37 3 57311864 57311864 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142733.2 -1 reviewed p.R342W 0.817 197 0% 93 41.9% 0 - probably_damaging(0.953) deleterious(0.02) deleterious(0.780) NULL FLNB 2317 genome.wustl.edu 37 3 58108958 58108958 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001457.3 +1 reviewed p.D1089N 1.000 146 0% 116 25% 32 25% possibly_damaging(0.875) tolerated(0.08) deleterious(0.640) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin FLNB 2317 genome.wustl.edu 37 3 58109324 58109324 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001457.3 +1 reviewed p.E1211K 0.875 85 0% 48 37.5% 19 42.1% possibly_damaging(0.785) tolerated(0.48) neutral(0.304) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin DNASE1L3 1776 genome.wustl.edu 37 3 58196517 58196517 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004944.2 -1 reviewed p.K39N 0.000 247 0% 229 28.8% 0 - benign(0.03) tolerated(0.09) neutral(0.298) HMMPfam_Exo_endo_phos,superfamily_DNase I-like,HMMSmart_SM00476 ACOX2 8309 genome.wustl.edu 37 3 58514681 58514681 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003500.3 -1 reviewed p.D332G 0.967 211 0% 116 39.7% 0 - benign(0.001) tolerated(0.1) neutral(0.286) superfamily_AcylCoADH_C_like FAM3D 131177 genome.wustl.edu 37 3 58622123 58622123 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138805.2 -1 validated p.L161 0.120 87 0% 71 26.8% 4 0% - - - NULL C3orf67 200844 genome.wustl.edu 37 3 58792129 58792129 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000486145 -1 known p.*32E 1.000 133 0% 88 31.8% 0 - - - - NULL C3orf67 200844 genome.wustl.edu 37 3 58870322 58870322 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198463.2 -1 validated p.R97C 0.977 228 0% 173 28.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PTPRG 5793 genome.wustl.edu 37 3 62204616 62204616 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002841.3 +1 reviewed p.F749 1.000 192 0% 163 33.7% 14 64.2% - - - NULL C3orf14 57415 genome.wustl.edu 37 3 62319035 62319035 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020685.3 +1 predicted p.N120H 0.025 164 0% 138 31.9% 2 0% benign(0.156) tolerated(0.16) neutral(0.073) NULL CADPS 8618 genome.wustl.edu 37 3 62452083 62452083 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000473635 -1 known p.N153S 0.996 47 0% 45 24.4% 2 0% - - - NULL THOC7 80145 genome.wustl.edu 37 3 63825447 63825447 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025075.2 -1 validated p.E8K 1.000 64 0% 65 26.2% 46 45.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_THOC7 MAGI1 9223 genome.wustl.edu 37 3 65350539 65350539 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000460329 -1 known p.P1000L 1.000 217 0% 194 29.4% 5 0% - - - NULL MAGI1 9223 genome.wustl.edu 37 3 65416377 65416377 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033057.1 -1 reviewed p.T515A 1.000 183 0% 151 31.8% 0 - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like LRIG1 26018 genome.wustl.edu 37 3 66457778 66457778 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015541.2 -1 validated p.R358Q 0.990 46 0% 23 47.8% 57 40.3% possibly_damaging(0.458) tolerated(0.51) neutral(0.159) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like LRIG1 26018 genome.wustl.edu 37 3 66460602 66460602 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015541.2 -1 validated p.A296T 0.926 143 0% 137 27.7% 54 55.5% benign(0) tolerated(0.18) neutral(0.056) HMMSmart_SM00369,superfamily_L domain-like LRIG1 26018 genome.wustl.edu 37 3 66465399 66465399 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015541.2 -1 validated p.N198H 1.000 183 0% 168 30.4% 60 43.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like KBTBD8 84541 genome.wustl.edu 37 3 67053841 67053841 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032505.2 +1 validated p.Q124H 0.964 178 0% 158 33.5% 0 - probably_damaging(0.981) deleterious(0.04) deleterious(0.774) NULL FAM19A1 407738 genome.wustl.edu 37 3 68466480 68466480 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_213609.2 +1 reviewed p.R57C 1.000 157 0% 145 43.4% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL TMF1 7110 genome.wustl.edu 37 3 69096784 69096785 + Frame_Shift_Ins INS - - AG novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007114.2 -1 validated p.I357fs 0.037:0.048 - - - - - - - - - NULL TMF1 7110 genome.wustl.edu 37 3 69097324 69097324 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007114.2 -1 validated p.E178K 0.837 375 0% 315 34.6% 8 62.5% benign(0.02) tolerated(0.22) neutral(0.043) NULL FRMD4B 23150 genome.wustl.edu 37 3 69225804 69225804 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015123.1 -1 validated p.S952Y 1.000 87 0% 86 29.1% 8 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL FRMD4B 23150 genome.wustl.edu 37 3 69299242 69299242 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015123.1 -1 validated p.I170 0.671 270 0.4% 262 36.6% 0 - - - - HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 MITF 4286 genome.wustl.edu 37 3 69928297 69928297 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198159.2 +1 reviewed p.E39 1.000 79 0% 55 23.6% 0 - - - - NULL FOXP1 27086 genome.wustl.edu 37 3 71021776 71021776 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032682.4 -1 reviewed p.N528H 1.000 161 0% 154 30.5% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" FOXP1 27086 genome.wustl.edu 37 3 71026154 71026154 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032682.4 -1 reviewed p.E490* 1.000 104 0% 93 23.7% 10 0% - - - "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" FOXP1 27086 genome.wustl.edu 37 3 71161692 71161692 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032682.4 -1 reviewed p.L93F 1.000 82 0% 89 25.8% 8 0% probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL RYBP 23429 genome.wustl.edu 37 3 72427728 72427728 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000477973 -1 known p.R254C 1.000 125 0% 136 29.4% 19 15.7% - - - NULL GXYLT2 727936 genome.wustl.edu 37 3 73004489 73004489 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080393.1 +1 provisional p.T281A 0.257 47 0% 46 23.9% 5 60% benign(0) tolerated(0.76) neutral(0.001) HMMPfam_Glyco_transf_8,superfamily_SSF53448 EBLN2 55096 genome.wustl.edu 37 3 73112027 73112027 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018029.3 +1 provisional p.L265 0.000 455 0.2% 365 32.3% 0 - - - - HMMPfam_BDV_P40,superfamily_P40_nucleoprot_BD-vir PDZRN3 23024 genome.wustl.edu 37 3 73440236 73440236 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015009.1 -1 provisional p.D429G 1.000 365 0% 288 31.6% 12 25% possibly_damaging(0.91) deleterious(0) deleterious(0.807) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like CNTN3 5067 genome.wustl.edu 37 3 74313588 74313588 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020872.1 -1 validated p.P1017 0.000 103 0% 103 39.8% 0 - - - - NULL CNTN3 5067 genome.wustl.edu 37 3 74334517 74334517 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020872.1 -1 validated p.A881 0.998 420 0% 306 26.8% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CNTN3 5067 genome.wustl.edu 37 3 74334521 74334521 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020872.1 -1 validated p.R880Q 1.000 419 0% 307 35.2% 0 - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CNTN3 5067 genome.wustl.edu 37 3 74384052 74384052 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020872.1 -1 validated p.R501I 0.263 146 0% 143 29.4% 0 - benign(0.053) tolerated(0.16) neutral(0.063) HMMPfam_I-set,superfamily_Immunoglobulin CNTN3 5067 genome.wustl.edu 37 3 74411104 74411104 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020872.1 -1 validated p.R434K 0.921 122 0% 109 26.6% 0 - benign(0) tolerated(1) - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ZNF717 100131827 genome.wustl.edu 37 3 75786874 75786874 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128223.1 -1 validated p.L634I 0.109 29 0% 23 34.8% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ROBO2 6092 genome.wustl.edu 37 3 77629158 77629158 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002942.3 +1 reviewed p.R797W 1.000 110 0% 112 25.9% 5 40% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ROBO1 6091 genome.wustl.edu 37 3 78663819 78663819 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002941.3 -1 reviewed p.R1472C 1.000 29 0% 36 27.8% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GBE1 2632 genome.wustl.edu 37 3 81640278 81640278 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000158.3 -1 reviewed p.D382G 1.000 50 0% 37 27% 22 27.2% - - - NULL HTR1F 3355 genome.wustl.edu 37 3 88040053 88040053 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000866.3 +1 validated p.R52W 0.997 228 0% 172 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 HTR1F 3355 genome.wustl.edu 37 3 88040328 88040328 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000866.3 +1 validated p.M143I 1.000 107 0% 107 32.7% 0 - benign(0.07) deleterious(0.01) neutral(0.411) HMMPfam_7tm_1,superfamily_SSF81321 CGGBP1 8545 genome.wustl.edu 37 3 88105092 88105092 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008390.1 -1 validated p.R12Q 1.000 119 0% 107 26.2% 25 40% possibly_damaging(0.666) tolerated(0.18) neutral(0.292) NULL ZNF654 55279 genome.wustl.edu 37 3 88189843 88189843 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018293.2 +1 validated p.S461 0.958 286 0% 250 30% 3 66.6% - - - NULL C3orf38 285237 genome.wustl.edu 37 3 88205426 88205426 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000318887 +1 known p.L211I 1.000 183 0% 123 27.6% 9 22.2% probably_damaging(0.99) tolerated(0.07) deleterious(0.760) superfamily_NTF2-like EPHA3 2042 genome.wustl.edu 37 3 89259262 89259262 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005233.5 +1 reviewed p.R136* 1.000 361 0% 299 28.4% 2 0% - - - HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like EPHA3 2042 genome.wustl.edu 37 3 89259479 89259479 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005233.5 +1 reviewed p.N208T 1.000 398 0% 369 29.8% 0 - possibly_damaging(0.597) deleterious(0.03) deleterious(0.571) NULL PROS1 5627 genome.wustl.edu 37 3 93598159 93598159 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000313.3 -1 reviewed e13-1 0.992 165 0% 165 30.3% 0 - - - - - PROS1 5627 genome.wustl.edu 37 3 93615493 93615493 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000313.3 -1 reviewed p.E298* 1.000 298 0% 261 27.2% 2 0% - - - superfamily_ConA_like_lec_gl ARL13B 200894 genome.wustl.edu 37 3 93722607 93722607 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182896.2 +1 reviewed p.R79W 1.000 211 0.5% 248 26.6% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases STX19 415117 genome.wustl.edu 37 3 93734103 93734103 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001850.1 -1 provisional p.R4Q 1.000 216 0% 203 26.1% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DHFRL1 200895 genome.wustl.edu 37 3 93780144 93780144 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176815.3 -1 provisional p.R71I 1.000 272 0% 281 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHFR_1,superfamily_SSF53597 CRYBG3 131544 genome.wustl.edu 37 3 97595929 97595929 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153605.2 +1 validated p.R16I 0.000 180 0% 178 19.1% 0 - benign(0) deleterious(0) neutral(0.445) NULL CRYBG3 131544 genome.wustl.edu 37 3 97607300 97607300 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153605.2 +1 validated e6+1 1.000 61 0% 57 33.3% 0 - - - - - MINA 84864 genome.wustl.edu 37 3 97664030 97664030 + Nonstop_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042533.1 -1 validated p.*466Q 0.980 259 0% 221 24.9% 9 33.3% - - - NULL GABRR3 200959 genome.wustl.edu 37 3 97711707 97711707 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000329044 -1 known p.K137E 0.981 396 0% 429 29.4% 0 - benign(0.025) tolerated(0.76) neutral(0.002) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore OR5H1 26341 genome.wustl.edu 37 3 97852205 97852205 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005338.1 +1 provisional p.L222I 0.170 239 0% 201 38.8% 0 - probably_damaging(0.995) tolerated(0.15) deleterious(0.699) HMMPfam_7tm_1,superfamily_SSF81321 OR5H6 79295 genome.wustl.edu 37 3 97983880 97983880 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005479.1 +1 provisional p.R251Q 0.001 173 0.6% 125 28% 0 - benign(0.249) tolerated(0.25) neutral(0.062) HMMPfam_7tm_1,superfamily_SSF81321 OR5K4 403278 genome.wustl.edu 37 3 98073519 98073519 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005517.1 +1 provisional p.F274L 0.997 899 0% 705 30.4% 0 - benign(0.008) tolerated(0.05) neutral(0.345) HMMPfam_7tm_1,superfamily_SSF81321 OR5K3 403277 genome.wustl.edu 37 3 98110053 98110053 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005516.1 +1 provisional p.L182F 0.005 492 0% 439 28.7% 0 - probably_damaging(0.976) tolerated(0.17) deleterious(0.477) HMMPfam_7tm_1,superfamily_SSF81321 OR5K3 403277 genome.wustl.edu 37 3 98110057 98110057 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005516.1 +1 provisional p.P183Q 0.083 499 0% 445 33.9% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_7tm_1,superfamily_SSF81321 OR5K3 403277 genome.wustl.edu 37 3 98110319 98110319 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005516.1 +1 provisional p.I270M 0.170 392 0% 374 28.9% 0 - benign(0.004) tolerated(0.21) neutral(0.044) HMMPfam_7tm_1,superfamily_SSF81321 OR5K1 26339 genome.wustl.edu 37 3 98189282 98189282 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004736.2 +1 provisional p.F288V 0.947 258 0% 235 26.8% 0 - possibly_damaging(0.52) tolerated(0.07) deleterious(0.494) HMMPfam_7tm_1,superfamily_SSF81321 OR5K2 402135 genome.wustl.edu 37 3 98216736 98216736 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004737.1 +1 provisional p.S71Y 0.483 415 0% 387 26.9% 0 - possibly_damaging(0.939) deleterious(0.02) deleterious(0.768) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5K2 402135 genome.wustl.edu 37 3 98217289 98217289 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004737.1 +1 provisional p.I255M 0.025 175 0% 193 32.6% 0 - benign(0.084) deleterious(0.01) neutral(0.412) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5K2 402135 genome.wustl.edu 37 3 98217293 98217293 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004737.1 +1 provisional p.F257I 0.152 171 0% 190 30.5% 0 - probably_damaging(0.984) deleterious(0.03) deleterious(0.795) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5K2 402135 genome.wustl.edu 37 3 98217412 98217412 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004737.1 +1 provisional p.E296D 0.998 132 0% 126 31.7% 0 - probably_damaging(0.995) tolerated(0.66) neutral(0.460) superfamily_Family A G protein-coupled receptor-like GPR15 2838 genome.wustl.edu 37 3 98251081 98251081 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005290.1 +1 provisional p.I68 0.951 108 0% 86 27.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CPOX 1371 genome.wustl.edu 37 3 98304462 98304462 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000097.5 -1 reviewed p.R332Q 1.000 186 0% 217 31.3% 14 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Coprogen_oxidas,superfamily_Coprogen_oxidas,PatternScan_COPROGEN_OXIDASE ST3GAL6 10402 genome.wustl.edu 37 3 98491702 98491702 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006100.2 +1 provisional p.K71N 0.462 215 0% 178 28.1% 11 63.6% benign(0.005) tolerated(0.05) neutral(0.345) HMMPfam_Glyco_transf_29 ST3GAL6 10402 genome.wustl.edu 37 3 98503843 98503843 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006100.2 +1 provisional p.K130 0.999 111 0% 106 36.8% 6 33.3% - - - HMMPfam_Glyco_transf_29 DCBLD2 131566 genome.wustl.edu 37 3 98544195 98544195 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080927.3 -1 validated p.L196S 1.000 59 0% 48 29.2% 16 37.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain LNP1 348801 genome.wustl.edu 37 3 100170635 100170635 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085451.1 +1 validated p.R77* 0.001 252 0% 216 30.1% 3 66.6% - - - NULL LNP1 348801 genome.wustl.edu 37 3 100170756 100170756 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085451.1 +1 validated p.R117Q 0.080 242 0% 188 30.9% 4 25% benign(0.001) tolerated(0.61) neutral(0.004) NULL TMEM45A 55076 genome.wustl.edu 37 3 100287723 100287723 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018004.1 +1 provisional p.E216* 0.984 372 0% 374 35.6% 20 0% - - - HMMPfam_DUF716 TMEM45A 55076 genome.wustl.edu 37 3 100287794 100287794 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018004.1 +1 provisional p.N239K 0.581 479 0% 434 34.1% 20 0% benign(0.001) tolerated(0.24) neutral(0.037) HMMPfam_DUF716 GPR128 84873 genome.wustl.edu 37 3 100364806 100364806 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032787.2 +1 validated p.G322S 1.000 67 0% 56 33.9% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL GPR128 84873 genome.wustl.edu 37 3 100378676 100378676 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032787.2 +1 validated p.Q656H 0.943 157 0% 104 20.2% 0 - possibly_damaging(0.63) tolerated(0.1) deleterious(0.506) HMMPfam_7tm_2 ABI3BP 25890 genome.wustl.edu 37 3 100494153 100494153 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015429.3 -1 validated p.T743A 0.471 45 0% 33 24.2% 2 0% benign(0.251) tolerated(0.36) neutral(0.045) NULL ABI3BP 25890 genome.wustl.edu 37 3 100585770 100585770 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015429.3 -1 validated p.E321G 1.000 55 0% 59 27.1% 1 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL ABI3BP 25890 genome.wustl.edu 37 3 100585771 100585771 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015429.3 -1 validated p.E321K 1.000 55 0% 59 39% 1 0% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL IMPG2 50939 genome.wustl.edu 37 3 100962570 100962570 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016247.2 -1 validated p.S869A 0.804 311 0% 276 31.2% 0 - benign(0.031) tolerated(0.08) neutral(0.301) NULL IMPG2 50939 genome.wustl.edu 37 3 100962659 100962659 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016247.2 -1 validated p.S839L 1.000 490 0% 396 14.4% 2 0% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) NULL IMPG2 50939 genome.wustl.edu 37 3 100963572 100963572 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016247.2 -1 validated p.S535P 0.000 447 0% 397 32.2% 0 - benign(0) tolerated(1) - NULL IMPG2 50939 genome.wustl.edu 37 3 101038524 101038524 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016247.2 -1 validated p.R80W 0.072 362 0% 258 36% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SENP7 57337 genome.wustl.edu 37 3 101066847 101066847 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020654.3 -1 validated p.R569Q 1.000 630 0% 568 24.5% 0 - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) NULL RG9MTD1 54931 genome.wustl.edu 37 3 101284280 101284280 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017819.2 +1 provisional p.E219* 0.997 160 0% 162 34.6% 46 56.5% - - - HMMPfam_tRNA_m1G_MT LOC100287880 100287880 genome.wustl.edu 37 3 102959890 102959890 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342391.1 +1 model p.V38I 0.030 61 0% 53 24.5% 0 - - - - HMMPfam_NADH_ub_rd_NUML CBLB 868 genome.wustl.edu 37 3 105438963 105438963 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170662.3 -1 validated p.P445 0.000 116 0% 91 26.4% 7 0% - - - NULL CBLB 868 genome.wustl.edu 37 3 105464791 105464791 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170662.3 -1 validated p.R272Q 0.996 258 0% 233 29.6% 7 28.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cbl_N3,superfamily_SH2 domain DZIP3 9666 genome.wustl.edu 37 3 108393004 108393004 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014648.3 +1 validated p.A890V 1.000 231 0% 185 30.3% 4 75% possibly_damaging(0.746) deleterious(0.01) deleterious(0.679) NULL RETNLB 84666 genome.wustl.edu 37 3 108475404 108475404 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032579.2 -1 validated p.L53 0.009 75 0% 73 27.4% 1 0% - - - HMMPfam_Resistin,superfamily_Resistin RETNLB 84666 genome.wustl.edu 37 3 108476008 108476008 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032579.2 -1 validated p.L9I 0.732 79 0% 64 20.3% 0 - possibly_damaging(0.697) tolerated(0.06) deleterious(0.573) HMMPfam_Resistin PVRL3 25945 genome.wustl.edu 37 3 110837539 110837539 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015480.1 +1 provisional p.S180Y 1.000 130 0% 126 30.2% 0 - benign(0.367) deleterious(0.01) deleterious(0.522) HMMPfam_C2-set_2,superfamily_Immunoglobulin PHLDB2 90102 genome.wustl.edu 37 3 111603011 111603011 + Silent SNP C C T rs147548065 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134438.1 +1 validated p.N29 0.039 539 0% 454 28.9% 0 - - - - NULL PHLDB2 90102 genome.wustl.edu 37 3 111603136 111603136 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134438.1 +1 validated p.S71I 1.000 708 0.1% 593 29% 1 0% probably_damaging(0.998) tolerated(0.13) deleterious(0.727) NULL PHLDB2 90102 genome.wustl.edu 37 3 111604254 111604254 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134438.1 +1 validated p.R444* 1.000 140 0% 146 27.4% 2 0% - - - NULL PHLDB2 90102 genome.wustl.edu 37 3 111671493 111671493 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134438.1 +1 validated p.K902N 1.000 139 0% 150 34% 4 0% probably_damaging(0.989) tolerated(0.06) deleterious(0.762) NULL TMPRSS7 344805 genome.wustl.edu 37 3 111799768 111799768 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042575.2 +1 validated p.S664L 1.000 173 0% 132 50.8% 0 - probably_damaging(0.954) deleterious(0) deleterious(0.842) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_SER C3orf52 79669 genome.wustl.edu 37 3 111821743 111821743 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024616.2 +1 validated p.F109L 0.998 34 0% 39 56.4% 3 0% possibly_damaging(0.93) deleterious(0) deleterious(0.821) NULL SLC9A10 285335 genome.wustl.edu 37 3 111985096 111985096 + Silent SNP T T G rs111630726 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_183061.1 -1 validated p.T289 0.004 237 0% 195 32.3% 0 - - - - HMMPfam_Na_H_Exchanger ATG3 64422 genome.wustl.edu 37 3 112253160 112253160 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022488.3 -1 provisional p.I273 0.989 236 0% 163 30.1% 67 26.8% - - - NULL CD200R1 131450 genome.wustl.edu 37 3 112666716 112666716 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138806.3 -1 reviewed p.E41D 0.000 112 0% 75 33.3% 0 - benign(0.181) tolerated(0.68) neutral(0.019) NULL C3orf17 25871 genome.wustl.edu 37 3 112724694 112724694 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015412.3 -1 validated p.L465I 0.243 140 0% 137 29.2% 17 47% possibly_damaging(0.555) deleterious(0) deleterious(0.634) NULL WDR52 55779 genome.wustl.edu 37 3 113092365 113092365 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018338.3 -1 validated p.F779 0.958 157 0% 142 31% 0 - - - - superfamily_WD40_like SPICE1 152185 genome.wustl.edu 37 3 113165463 113165463 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000467618 -1 known p.D163G 0.045 89 0% 57 28.1% 9 33.3% - - - NULL LOC100288429 100288429 genome.wustl.edu 37 3 113252051 113252051 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342394.1 -1 model p.L112F 1.000 32 0% 30 13.3% 0 - - - - NULL SIDT1 54847 genome.wustl.edu 37 3 113321949 113321949 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017699.2 +1 validated p.F405 0.106 71 0% 95 27.4% 1 0% - - - NULL KIAA2018 205717 genome.wustl.edu 37 3 113374187 113374187 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009899.2 -1 validated p.Y2114* 0.991 170 0% 175 25.1% 1 0% - - - NULL KIAA2018 205717 genome.wustl.edu 37 3 113374248 113374248 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009899.2 -1 validated p.R2094Q 1.000 131 0% 174 25.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NAA50 80218 genome.wustl.edu 37 3 113442890 113442890 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025146.1 -1 provisional p.R21 1.000 161 0% 177 33.3% 63 41.2% - - - superfamily_Acyl-CoA N-acyltransferases (Nat) KIAA1407 57577 genome.wustl.edu 37 3 113765538 113765538 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020817.1 -1 predicted p.F57L 0.070 163 0% 180 23.9% 0 - benign(0.144) deleterious(0.02) neutral(0.396) NULL ZNF80 7634 genome.wustl.edu 37 3 113955340 113955340 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007136.3 -1 validated p.C194 0.443 147 0% 100 19% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF80 7634 genome.wustl.edu 37 3 113955646 113955646 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007136.3 -1 validated p.F92 0.000 75 0% 55 36.4% 0 - - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZBTB20 26137 genome.wustl.edu 37 3 114069181 114069181 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015642.4 -1 validated p.L509I 1.000 125 0% 101 20.8% 0 - benign(0.409) tolerated(0.37) neutral(0.151) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 IGSF11 152404 genome.wustl.edu 37 3 118621425 118621425 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001015887.1 -1 validated p.R413Q 1.000 318 0% 239 26.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C3orf30 152405 genome.wustl.edu 37 3 118865432 118865432 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000460150 +1 known p.S96A 0.002 164 0% 149 27.5% 0 - - - - NULL ARHGAP31 57514 genome.wustl.edu 37 3 119102036 119102036 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020754.2 +1 reviewed p.I215 1.000 218 0% 163 33.7% 2 0% - - - superfamily_GTPase activation domain GAP ARHGAP31 57514 genome.wustl.edu 37 3 119135033 119135033 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020754.2 +1 reviewed p.E1419 1.000 406 0% 243 35% 4 0% - - - NULL TMEM39A 55254 genome.wustl.edu 37 3 119153648 119153648 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018266.1 -1 provisional p.N398 0.996 193 0% 204 30.9% 15 26.6% - - - HMMPfam_Tmp39 TMEM39A 55254 genome.wustl.edu 37 3 119165993 119165993 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018266.1 -1 provisional p.M149I 1.000 230 0% 225 33.8% 13 46.1% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Tmp39 C3orf15 89876 genome.wustl.edu 37 3 119462960 119462960 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033364.3 +1 validated p.R607W 1.000 60 0% 52 21.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C3orf15 89876 genome.wustl.edu 37 3 119466022 119466022 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033364.3 +1 validated p.E655K 0.637 196 0% 161 30.4% 0 - benign(0.158) tolerated(0.24) neutral(0.051) NULL GSK3B 2932 genome.wustl.edu 37 3 119595266 119595266 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002093.3 -1 reviewed p.W301* 1.000 191 0% 173 23.1% 22 9% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GSK3B 2932 genome.wustl.edu 37 3 119666136 119666136 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002093.3 -1 reviewed p.F115L 1.000 270 0% 200 21.5% 8 87.5% possibly_damaging(0.583) tolerated(0.06) deleterious(0.523) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GPR156 165829 genome.wustl.edu 37 3 119886865 119886865 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153002.2 -1 validated p.C487R 0.001 236 0% 204 27% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL LRRC58 116064 genome.wustl.edu 37 3 120053798 120053798 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099678.1 -1 validated p.R273Q 0.998 66 0% 45 35.6% 3 33.3% benign(0.279) tolerated(0.71) neutral(0.032) superfamily_SSF52058 GTF2E1 2960 genome.wustl.edu 37 3 120500127 120500127 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005513.2 +1 validated p.R377Q 0.000 291 0% 253 32.4% 5 40% benign(0.003) tolerated(0.59) neutral(0.004) NULL STXBP5L 9515 genome.wustl.edu 37 3 120973887 120973887 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014980.2 +1 validated p.F529L 0.997 81 0% 68 22.1% 0 - benign(0) tolerated(1) - HMMSmart_SM00320,superfamily_WD40 repeat-like STXBP5L 9515 genome.wustl.edu 37 3 121132070 121132070 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014980.2 +1 validated p.R1029Q 1.000 181 0.6% 145 33.1% 0 - possibly_damaging(0.951) tolerated(0.25) neutral(0.431) NULL POLQ 10721 genome.wustl.edu 37 3 121151871 121151871 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199420.3 -1 validated p.R2518Q 0.000 85 0% 73 24.7% 3 66.6% possibly_damaging(0.761) tolerated(0.1) deleterious(0.569) HMMPfam_DNA_pol_A,HMMSmart_SM00482,superfamily_DNA/RNA polymerases POLQ 10721 genome.wustl.edu 37 3 121209199 121209199 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199420.3 -1 validated p.R860Q 1.000 228 0% 213 32.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ARGFX 503582 genome.wustl.edu 37 3 121289572 121289572 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012659.1 +1 validated p.R4 0.000 290 0% 254 29.1% 0 - - - - NULL FBXO40 51725 genome.wustl.edu 37 3 121341111 121341111 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016298.3 +1 validated p.R279C 0.000 172 0% 162 37% 0 - possibly_damaging(0.768) tolerated(0.05) deleterious(0.630) NULL GOLGB1 2804 genome.wustl.edu 37 3 121409630 121409630 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004487.3 -1 validated p.R2856* 0.994 99 0% 88 31.8% 5 20% - - - superfamily_Prefoldin GOLGB1 2804 genome.wustl.edu 37 3 121413027 121413027 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004487.3 -1 validated p.E2110* 1.000 587 0% 487 31.2% 5 0% - - - NULL GOLGB1 2804 genome.wustl.edu 37 3 121416930 121416930 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004487.3 -1 validated p.D809Y 1.000 296 0% 269 27.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ILDR1 286676 genome.wustl.edu 37 3 121707072 121707072 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000383663 -1 known p.F212V 0.011 32 0% 33 18.2% 6 0% unknown(0) - - NULL CD86 942 genome.wustl.edu 37 3 121828238 121828238 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175862.3 +1 reviewed p.R277H 0.000 298 0% 249 27.7% 12 0% probably_damaging(0.977) tolerated(0.16) deleterious(0.478) NULL CD86 942 genome.wustl.edu 37 3 121838342 121838342 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000478741 +1 known p.E265K 0.001 122 0% 108 18.5% 12 0% - - - NULL CASR 846 genome.wustl.edu 37 3 122003100 122003100 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000388.3 +1 reviewed p.E767K 1.000 83 0% 108 20.4% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_7tm_3 KPNA1 3836 genome.wustl.edu 37 3 122146516 122146516 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002264.3 -1 reviewed p.T433R 1.000 177 0% 138 21.7% 16 37.5% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat KPNA1 3836 genome.wustl.edu 37 3 122215398 122215398 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002264.3 -1 reviewed p.G5 1.000 198 0% 189 27.5% 4 0% - - - HMMPfam_IBB PARP9 83666 genome.wustl.edu 37 3 122255171 122255171 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031458.2 -1 validated p.E677* 0.000 713 0% 713 32.3% 15 13.3% - - - HMMPfam_PARP,superfamily_ADP-ribosylation PARP15 165631 genome.wustl.edu 37 3 122335976 122335976 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113523.1 +1 validated p.V322A 1.000 209 0% 266 31.2% 0 - benign(0.293) deleterious(0) deleterious(0.535) HMMPfam_Macro,HMMSmart_SM00506,superfamily_Macro domain-like PARP14 54625 genome.wustl.edu 37 3 122419058 122419058 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017554.2 +1 validated p.E553* 0.018 71 0% 75 32% 1 0% - - - NULL PARP14 54625 genome.wustl.edu 37 3 122419393 122419393 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017554.2 +1 validated p.F664 0.002 70 0% 75 38.7% 1 0% - - - NULL PARP14 54625 genome.wustl.edu 37 3 122437068 122437068 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017554.2 +1 validated p.K1384R 0.972 107 0% 102 33.3% 10 0% benign(0.063) tolerated(0.3) neutral(0.033) superfamily_Macro domain-like ADCY5 111 genome.wustl.edu 37 3 123044269 123044269 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_183357.1 -1 validated p.R663I 1.000 105 0% 81 29.6% 3 66.6% possibly_damaging(0.95) deleterious(0.01) deleterious(0.799) HMMPfam_DUF1053 ROPN1 54763 genome.wustl.edu 37 3 123695794 123695794 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017578.2 -1 provisional p.P51S 1.000 170 0% 163 26.4% 0 - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL KALRN 8997 genome.wustl.edu 37 3 124129085 124129085 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000393499 +1 known p.F149 0.002 85 0% 77 28.6% 0 - - - - NULL KALRN 8997 genome.wustl.edu 37 3 124165105 124165105 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000354186 +1 known p.S1104L 1.000 126 0% 102 20.6% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat KALRN 8997 genome.wustl.edu 37 3 124209704 124209704 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000354186 +1 known p.R1487Q 0.808 54 0% 80 35% 2 50% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KALRN 8997 genome.wustl.edu 37 3 124397059 124397059 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001024660.3 +1 reviewed p.L2406I 1.000 204 0% 177 29.9% 1 0% probably_damaging(0.971) tolerated(0.08) deleterious(0.713) NULL ITGB5 3693 genome.wustl.edu 37 3 124527919 124527919 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002213.3 -1 provisional p.V405I 0.000 237 0% 201 30.8% 53 43.3% benign(0) tolerated(0.31) neutral(0.027) HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF69179 MUC13 56667 genome.wustl.edu 37 3 124641092 124641092 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033049.2 -1 validated p.E231D 0.001 137 0% 120 29.2% 3 0% possibly_damaging(0.868) tolerated(1) neutral(0.337) HMMPfam_SEA HEG1 57493 genome.wustl.edu 37 3 124689614 124689614 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020733.1 -1 validated p.R1343Q 1.000 44 0% 35 14.3% 5 0% possibly_damaging(0.871) deleterious(0) deleterious(0.783) NULL SLC12A8 84561 genome.wustl.edu 37 3 124826772 124826772 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024628.5 -1 validated p.L420F 0.003 179 0% 187 13.4% 1 0% benign(0.179) tolerated(0.74) neutral(0.018) NULL SNX4 8723 genome.wustl.edu 37 3 125172687 125172687 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003794.2 -1 reviewed p.E386A 1.000 335 0% 259 33.6% 33 42.4% possibly_damaging(0.88) tolerated(0.14) deleterious(0.593) NULL OSBPL11 114885 genome.wustl.edu 37 3 125271062 125271062 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022776.4 -1 reviewed p.F539L 1.000 164 0% 136 27.2% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Oxysterol_BP OSBPL11 114885 genome.wustl.edu 37 3 125297839 125297839 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022776.4 -1 reviewed p.I152V 1.000 194 0% 159 28.9% 4 75% benign(0) tolerated(0.28) neutral(0.032) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CCDC37 348807 genome.wustl.edu 37 3 126138549 126138549 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182628.2 +1 validated p.S267 0.213 61 0% 51 39.2% 1 0% - - - NULL C3orf22 152065 genome.wustl.edu 37 3 126272151 126272151 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152533.1 -1 predicted p.P28L 0.460 261 0% 235 25.1% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL PLXNA1 5361 genome.wustl.edu 37 3 126751319 126751319 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032242.3 +1 validated p.S1751L 1.000 45 0% 22 31.8% 27 40.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl MCM2 4171 genome.wustl.edu 37 3 127327768 127327768 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004526.2 +1 reviewed p.V444M 0.995 207 0% 218 35.8% 42 52.3% benign(0.109) deleterious(0.01) neutral(0.414) HMMSmart_MCM KBTBD12 166348 genome.wustl.edu 37 3 127642361 127642361 + Nonsense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207335.2 +1 validated p.K153* 0.670 102 0% 95 28.4% 0 - - - - HMMPfam_BACK RAB7A 7879 genome.wustl.edu 37 3 128516801 128516801 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004637.5 +1 reviewed p.S23 0.939 168 0% 131 39.7% 252 50.3% - - - HMMSmart_SM00176,PatternScan_SIGMA54_INTERACT_1,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ISY1 57461 genome.wustl.edu 37 3 128878015 128878015 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020701.2 -1 provisional p.R3Q 1.000 112 0% 113 29.2% 23 21.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Isy1 MBD4 8930 genome.wustl.edu 37 3 129155690 129155690 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003925.1 -1 reviewed p.S266Y 0.001 258 0% 225 29.8% 11 0% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) NULL IFT122 55764 genome.wustl.edu 37 3 129200408 129200408 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000454840 +1 known p.R306C 0.855 109 0% 115 27.8% 6 50% - - - NULL COL6A5 256076 genome.wustl.edu 37 3 130202995 130202995 + RNA SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_022012.1 +1 validated NULL 0.006 21 0% 18 22.2% 0 - - - - - COL6A6 131873 genome.wustl.edu 37 3 130289762 130289762 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102608.1 +1 provisional p.G834 0.000 89 0% 93 43% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A6 131873 genome.wustl.edu 37 3 130300744 130300744 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102608.1 +1 provisional p.G1296E 1.000 382 0% 351 27.9% 0 - probably_damaging(0.961) tolerated(0.12) deleterious(0.665) HMMSmart_SM00327,superfamily_vWA-like COL6A6 131873 genome.wustl.edu 37 3 130313129 130313129 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102608.1 +1 provisional p.S1492N 0.997 65 0% 65 29.2% 0 - benign(0.099) tolerated(0.45) neutral(0.019) HMMPfam_Collagen COL6A6 131873 genome.wustl.edu 37 3 130354551 130354551 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102608.1 +1 provisional p.I1679 0.006 24 0% 20 40% 0 - - - - HMMPfam_Collagen PIK3R4 30849 genome.wustl.edu 37 3 130400358 130400358 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014602.2 -1 validated p.A1229T 1.000 244 0% 161 28% 23 34.7% benign(0.006) tolerated(0.74) neutral(0.002) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 ATP2C1 27032 genome.wustl.edu 37 3 130720167 130720167 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000504612 +1 known p.R865Q 0.000 166 0% 114 25.4% 99 43.4% - - - NULL ASTE1 28990 genome.wustl.edu 37 3 130743722 130743722 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014065.2 -1 validated p.R143 1.000 103 0% 119 27.7% 5 20% - - - superfamily_SSF88723 NEK11 79858 genome.wustl.edu 37 3 130884308 130884308 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024800.4 +1 reviewed p.R374Q 0.538 97 0% 93 25.8% 4 50% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL NEK11 79858 genome.wustl.edu 37 3 130947485 130947485 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024800.4 +1 reviewed p.E505* 0.001 385 0% 312 33% 3 0% - - - NULL DNAJC13 23317 genome.wustl.edu 37 3 132222104 132222104 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015268.3 +1 validated p.R1588H 1.000 121 0% 121 27.3% 6 16.6% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_ARM repeat CCRL1 51554 genome.wustl.edu 37 3 132319323 132319323 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016557.2 +1 reviewed p.E28* 1.000 202 0% 158 27.2% 0 - - - - superfamily_SSF81321 ACAD11 84129 genome.wustl.edu 37 3 132349323 132349323 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032169.4 -1 validated p.F307L 1.000 132 0% 106 25.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) NPHP3 27031 genome.wustl.edu 37 3 132402257 132402257 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153240.3 -1 reviewed p.L1228I 0.992 103 0% 63 28.6% 2 50% benign(0.161) deleterious(0.04) neutral(0.363) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like NPHP3 27031 genome.wustl.edu 37 3 132433960 132433960 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153240.3 -1 reviewed p.E309G 1.000 176 0% 151 31.1% 2 0% probably_damaging(0.994) tolerated(0.21) deleterious(0.496) NULL BFSP2 8419 genome.wustl.edu 37 3 133119095 133119095 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003571.2 +1 reviewed p.V56 0.984 30 0% 49 32.7% 0 - - - - NULL BFSP2 8419 genome.wustl.edu 37 3 133169167 133169167 + Silent SNP A A G rs181275910 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003571.2 +1 reviewed p.K250 0.872 182 0% 158 23.4% 0 - - - - HMMPfam_Filament BFSP2 8419 genome.wustl.edu 37 3 133169266 133169266 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003571.2 +1 reviewed p.V283 0.000 158 0% 139 33.1% 2 0% - - - HMMPfam_Filament BFSP2 8419 genome.wustl.edu 37 3 133169275 133169275 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003571.2 +1 reviewed p.N286 0.999 145 0% 131 21.4% 2 0% - - - HMMPfam_Filament TOPBP1 11073 genome.wustl.edu 37 3 133342920 133342920 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007027.3 -1 reviewed p.I968M 0.998 195 0% 171 31% 8 12.5% possibly_damaging(0.747) deleterious(0.02) deleterious(0.657) HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain TOPBP1 11073 genome.wustl.edu 37 3 133371369 133371369 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007027.3 -1 reviewed p.N343H 0.982 81 0% 69 20.3% 2 50% possibly_damaging(0.848) tolerated(0.12) deleterious(0.586) NULL RAB6B 51560 genome.wustl.edu 37 3 133557034 133557034 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016577.3 -1 validated p.A157 0.016 92 0% 85 27.1% 1 0% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SLCO2A1 6578 genome.wustl.edu 37 3 133673841 133673841 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005630.2 -1 validated p.F198L 0.761 49 0% 48 37.5% 3 33.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter ANAPC13 25847 genome.wustl.edu 37 3 134201661 134201661 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015391.3 -1 reviewed p.V29A 1.000 237 0% 174 20.1% 33 36.3% benign(0.003) deleterious(0) neutral(0.445) HMMPfam_Apc13p EPHB1 2047 genome.wustl.edu 37 3 134885783 134885783 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004441.4 +1 reviewed e9-1 1.000 361 0% 207 25.1% 0 - - - - - EPHB1 2047 genome.wustl.edu 37 3 134977910 134977910 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004441.4 +1 reviewed p.S968I 1.000 72 0% 69 34.8% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain PPP2R3A 5523 genome.wustl.edu 37 3 135745859 135745859 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002718.3 +1 reviewed p.Q727H 0.922 188 0% 218 34.9% 0 - possibly_damaging(0.794) tolerated(0.12) deleterious(0.558) superfamily_EF-hand MSL2 55167 genome.wustl.edu 37 3 135870121 135870121 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018133.3 -1 validated p.I534 0.998 121 0% 98 28.6% 8 50% - - - NULL MSL2 55167 genome.wustl.edu 37 3 135871065 135871065 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018133.3 -1 validated p.V220I 1.000 148 0% 128 31.2% 16 43.7% benign(0.247) tolerated(0.85) neutral(0.026) NULL STAG1 10274 genome.wustl.edu 37 3 136139969 136139969 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005862.2 -1 reviewed p.L692I 1.000 102 0% 118 28.8% 4 25% benign(0.269) tolerated(0.29) neutral(0.058) superfamily_ARM-type_fold SLC35G2 80723 genome.wustl.edu 37 3 136574248 136574248 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001097599.1 +1 validated p.E316* 1.000 645 0% 654 31.5% 26 57.6% - - - HMMPfam_DUF6,superfamily_SSF103481 NCK1 4690 genome.wustl.edu 37 3 136646968 136646968 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006153.3 +1 reviewed p.R42Q 1.000 186 0% 168 28% 19 21% possibly_damaging(0.687) tolerated(0.42) neutral(0.260) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 SOX14 8403 genome.wustl.edu 37 3 137484324 137484324 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004189.2 +1 reviewed p.S233L 1.000 63 0% 32 28.1% 0 - benign(0.429) tolerated(0.22) neutral(0.182) NULL CLDN18 51208 genome.wustl.edu 37 3 137743454 137743454 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002026.2 +1 validated p.C131G 0.990 268 0% 209 26.8% 0 - benign(0.182) deleterious(0.01) neutral(0.422) HMMPfam_PMP22_Claudin DZIP1L 199221 genome.wustl.edu 37 3 137811331 137811331 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173543.2 -1 validated p.W255L 1.000 333 0% 261 24.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARMC8 25852 genome.wustl.edu 37 3 137993338 137993338 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015396.3 +1 validated p.A545 0.785 185 0% 131 26% 11 27.2% - - - HMMSmart_ARM,superfamily_ARM-type_fold NME9 347736 genome.wustl.edu 37 3 138023769 138023769 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178130.2 -1 provisional p.R185Q 0.445 194 0% 155 32.9% 0 - benign(0.25) tolerated(0.13) neutral(0.278) HMMPfam_NDK,HMMSmart_NDK,superfamily_NDK ESYT3 83850 genome.wustl.edu 37 3 138187557 138187557 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031913.3 +1 validated p.P457S 1.000 138 0% 137 35.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CEP70 80321 genome.wustl.edu 37 3 138248056 138248056 + Missense_Mutation SNP T T G rs139123944 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024491.2 -1 validated p.K285T 1.000 195 0.5% 188 35.6% 9 44.4% possibly_damaging(0.763) deleterious(0.05) deleterious(0.628) NULL CEP70 80321 genome.wustl.edu 37 3 138289984 138289984 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024491.2 -1 validated p.D59G 1.000 105 0% 106 23.6% 7 42.8% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) NULL PIK3CB 5291 genome.wustl.edu 37 3 138376574 138376574 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006219.1 -1 provisional p.V967A 1.000 203 0% 141 36.9% 18 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like PRR23A 729627 genome.wustl.edu 37 3 138724664 138724664 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134659.1 -1 validated p.I149 0.000 23 0% 27 37% 0 - - - - HMMPfam_DUF2476 MRPS22 56945 genome.wustl.edu 37 3 139071596 139071596 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020191.2 +1 reviewed p.K280N 0.905 152 0% 131 26% 70 45.7% possibly_damaging(0.563) tolerated(0.16) neutral(0.252) HMMPfam_MRP-S22 CLSTN2 64084 genome.wustl.edu 37 3 140251312 140251312 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022131.2 +1 validated p.V497 0.887 146 0% 150 28.7% 1 0% - - - superfamily_Concanavalin A-like lectins/glucanases CLSTN2 64084 genome.wustl.edu 37 3 140275400 140275400 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022131.2 +1 validated p.D574N 0.999 329 0% 260 28.1% 1 0% possibly_damaging(0.838) tolerated(0.51) neutral(0.329) NULL CLSTN2 64084 genome.wustl.edu 37 3 140281088 140281088 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022131.2 +1 validated p.H717R 1.000 184 0% 151 23.8% 0 - benign(0) tolerated(0.55) neutral(0.007) NULL SPSB4 92369 genome.wustl.edu 37 3 140866029 140866029 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080862.1 +1 provisional p.S247L 0.009 59 0% 50 40% 2 100% benign(0) tolerated(0.7) neutral(0.002) HMMPfam_SOCS_box ZBTB38 253461 genome.wustl.edu 37 3 141162657 141162657 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080412.2 +1 validated p.R476Q 0.999 114 0% 138 13% 3 66.6% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC729687 729687 genome.wustl.edu 37 3 141583990 141583990 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001133695.3 -1 model p.A44 0.991 71 0% 74 21.6% 1 0% - - - HMMPfam_HMG14_17,HMMSmart_SM00527 TFDP2 7029 genome.wustl.edu 37 3 141692961 141692961 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006286.4 -1 reviewed p.S138T 1.000 174 0% 129 24.8% 21 76.1% possibly_damaging(0.481) tolerated(0.12) neutral(0.420) HMMPfam_E2F_TDP,superfamily_SSF46785 XRN1 54464 genome.wustl.edu 37 3 142075801 142075801 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019001.3 -1 validated p.L1209V 0.651 204 0% 164 36.6% 1 0% benign(0) tolerated(0.36) neutral(0.020) NULL ATR 545 genome.wustl.edu 37 3 142269003 142269003 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001184.3 -1 reviewed p.D983N 1.000 196 0% 177 36.2% 1 0% possibly_damaging(0.574) tolerated(0.23) neutral(0.239) superfamily_ARM repeat TRPC1 7220 genome.wustl.edu 37 3 142499822 142499822 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003304.4 +1 validated p.R270I 1.000 121 0% 109 26.6% 2 0% probably_damaging(0.982) tolerated(0.05) deleterious(0.772) NULL TRPC1 7220 genome.wustl.edu 37 3 142503813 142503813 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003304.4 +1 validated p.E376* 1.000 75 0% 83 21.7% 0 - - - - NULL TRPC1 7220 genome.wustl.edu 37 3 142511762 142511762 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003304.4 +1 validated p.R478C 1.000 268 0% 217 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans SLC9A9 285195 genome.wustl.edu 37 3 143100950 143100950 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173653.3 -1 reviewed p.G492 0.944 320 0% 163 33.1% 1 0% - - - NULL PLSCR4 57088 genome.wustl.edu 37 3 145914484 145914484 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020353.2 -1 validated p.E241* 0.989 187 0% 162 29% 4 0% - - - HMMPfam_Scramblase PLSCR4 57088 genome.wustl.edu 37 3 145917752 145917752 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020353.2 -1 validated p.E158K 0.998 66 0% 56 32.1% 2 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Scramblase PLSCR2 57047 genome.wustl.edu 37 3 146173172 146173172 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020359.1 -1 provisional p.E59* 0.997 159 0% 133 32.3% 0 - - - - HMMPfam_Scramblase PLSCR1 5359 genome.wustl.edu 37 3 146239685 146239685 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021105.2 -1 validated p.E171* 1.000 127 0% 103 30.1% 21 0% - - - HMMPfam_Scramblase PLSCR1 5359 genome.wustl.edu 37 3 146246443 146246443 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021105.2 -1 validated p.Q90H 0.084 191 0% 167 32.3% 19 15.7% possibly_damaging(0.904) tolerated(0.16) neutral(0.418) HMMPfam_Scramblase PLSCR5 389158 genome.wustl.edu 37 3 146307490 146307490 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085420.1 -1 validated p.D243Y 1.000 207 0% 180 31.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Scramblase HLTF 6596 genome.wustl.edu 37 3 148756855 148756855 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003071.3 -1 reviewed p.R926Q 1.000 147 0% 123 23.6% 11 36.3% possibly_damaging(0.847) tolerated(0.19) neutral(0.374) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases HLTF 6596 genome.wustl.edu 37 3 148757913 148757913 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003071.3 -1 reviewed p.D803Y 0.994 84 0% 74 29.7% 10 80% possibly_damaging(0.708) deleterious(0.03) deleterious(0.620) superfamily_RING/U-box HLTF 6596 genome.wustl.edu 37 3 148793777 148793777 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003071.3 -1 reviewed p.N96H 1.000 96 0% 104 30.8% 4 75% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_HIRAN HLTF 6596 genome.wustl.edu 37 3 148802507 148802507 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003071.3 -1 reviewed p.R64 1.000 108 0% 101 29.7% 8 37.5% - - - HMMPfam_HIRAN HPS3 84343 genome.wustl.edu 37 3 148857833 148857833 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032383.3 +1 reviewed p.F87C 0.909 240 0% 261 31% 5 60% probably_damaging(0.989) tolerated(0.06) deleterious(0.762) NULL HPS3 84343 genome.wustl.edu 37 3 148858132 148858132 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032383.3 +1 reviewed p.T187A 0.079 283 0% 295 24.1% 6 50% benign(0.009) tolerated(0.29) neutral(0.030) NULL CP 1356 genome.wustl.edu 37 3 148927028 148927028 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000096.3 -1 reviewed p.E251K 0.936 410 0% 328 35.1% 4 100% possibly_damaging(0.525) tolerated(0.26) neutral(0.211) HMMPfam_Cu-oxidase,superfamily_Cupredoxins CP 1356 genome.wustl.edu 37 3 148927151 148927151 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000096.3 -1 reviewed p.E210* 1.000 257 0% 229 29.3% 5 20% - - - superfamily_Cupredoxins TM4SF18 116441 genome.wustl.edu 37 3 149048185 149048185 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138786.3 -1 validated p.L67I 0.943 96 0% 99 25.3% 1 0% probably_damaging(0.979) tolerated(0.07) deleterious(0.741) HMMPfam_L6_membrane WWTR1 25937 genome.wustl.edu 37 3 149260151 149260151 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015472.4 -1 validated p.R248* 0.024 69 0% 69 44.9% 22 0% - - - NULL WWTR1 25937 genome.wustl.edu 37 3 149260222 149260222 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015472.4 -1 validated p.A224V 0.889 55 0% 49 40.8% 16 0% probably_damaging(0.983) tolerated(0.06) deleterious(0.752) NULL EIF2A 83939 genome.wustl.edu 37 3 150285787 150285787 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032025.3 +1 validated p.K216N 1.000 80 0% 56 23.2% 41 39% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like,HMMPfam_eIF2A FAM194A 131831 genome.wustl.edu 37 3 150396316 150396316 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152394.3 -1 validated p.S379 1.000 78 0% 68 29.4% 0 - - - - NULL FAM194A 131831 genome.wustl.edu 37 3 150398265 150398265 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152394.3 -1 validated p.F367L 0.000 203 0% 187 27.3% 0 - benign(0.031) tolerated(0.45) neutral(0.013) NULL MED12L 116931 genome.wustl.edu 37 3 150874066 150874066 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053002.4 +1 reviewed p.Q225 0.992 144 0% 113 36.3% 0 - - - - NULL MED12L 116931 genome.wustl.edu 37 3 150883218 150883218 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053002.4 +1 reviewed p.R423 1.000 144 0% 98 26.5% 0 - - - - NULL GPR171 29909 genome.wustl.edu 37 3 150916346 150916346 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013308.3 -1 validated p.S276 0.000 148 0% 115 32.2% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 GPR171 29909 genome.wustl.edu 37 3 150916564 150916564 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013308.3 -1 validated p.R204* 0.550 151 0% 115 31.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 P2RY13 53829 genome.wustl.edu 37 3 151046282 151046282 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176894.2 -1 reviewed p.P188S 0.305 204 0% 233 28.8% 1 0% benign(0.009) tolerated(0.35) neutral(0.021) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MED12L 116931 genome.wustl.edu 37 3 151105726 151105726 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053002.4 +1 reviewed p.E1704 1.000 164 0% 152 32.9% 0 - - - - NULL IGSF10 285313 genome.wustl.edu 37 3 151155401 151155401 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178822.4 -1 validated p.R2316 0.989 255 0% 199 27.1% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin IGSF10 285313 genome.wustl.edu 37 3 151156293 151156293 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178822.4 -1 validated p.R2019I 1.000 145 0.7% 124 39.5% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SUCNR1 56670 genome.wustl.edu 37 3 151598689 151598689 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033050.4 +1 reviewed p.R120* 1.000 320 0% 292 33.9% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 MBNL1 4154 genome.wustl.edu 37 3 152018102 152018102 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000464596 +1 known p.R39Q 1.000 242 0% 250 32% 7 14.2% - - - HMMPfam_zf-CCCH,HMMSmart_SM00356 TMEM14E 645843 genome.wustl.edu 37 3 152058497 152058497 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001123228.1 -1 provisional p.S66Y 0.004 139 0% 134 32.8% 0 - benign(0.002) tolerated(0.82) neutral(0.001) NULL ARHGEF26 26084 genome.wustl.edu 37 3 153840466 153840466 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015595.3 +1 validated p.E229K 0.163 44 0% 36 36.1% 0 - possibly_damaging(0.887) tolerated(0.2) neutral(0.396) NULL ARHGEF26 26084 genome.wustl.edu 37 3 153840862 153840862 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015595.3 +1 validated p.K361Q 1.000 68 0% 45 26.7% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL ARHGEF26 26084 genome.wustl.edu 37 3 153935742 153935742 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015595.3 +1 validated p.I644F 1.000 20 0% 16 25% 0 - probably_damaging(0.999) tolerated(0.2) deleterious(0.539) superfamily_PH domain-like DHX36 170506 genome.wustl.edu 37 3 154007560 154007560 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020865.2 -1 validated p.D624N 1.000 164 0% 143 32.9% 18 11.1% benign(0.206) tolerated(0.47) neutral(0.031) superfamily_SSF52540 DHX36 170506 genome.wustl.edu 37 3 154033003 154033003 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020865.2 -1 validated p.K145N 0.999 202 0% 166 25.3% 2 0% benign(0.014) deleterious(0.02) neutral(0.384) NULL GPR149 344758 genome.wustl.edu 37 3 154055907 154055907 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001038705.1 -1 provisional p.R593* 1.000 168 0% 189 28% 0 - - - - NULL SLC33A1 9197 genome.wustl.edu 37 3 155551716 155551716 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004733.2 -1 reviewed p.P360S 1.000 79 0% 94 24.5% 5 60% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) superfamily_MFS general substrate transporter SLC33A1 9197 genome.wustl.edu 37 3 155560319 155560319 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004733.2 -1 reviewed p.E289* 1.000 79 0% 63 22.2% 3 0% - - - superfamily_MFS general substrate transporter KCNAB1 7881 genome.wustl.edu 37 3 155861124 155861124 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003471.3 +1 reviewed p.E53K 0.585 164 0% 143 61.5% 0 - benign(0.039) deleterious(0.01) neutral(0.408) NULL SSR3 6747 genome.wustl.edu 37 3 156261032 156261032 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007107.2 -1 reviewed p.S173* 1.000 136 0% 91 30.8% 155 32.2% - - - HMMPfam_TRAP-gamma PTX3 5806 genome.wustl.edu 37 3 157154737 157154737 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002852.3 +1 validated p.A5 0.000 114 0% 102 31.4% 0 - - - - NULL SHOX2 6474 genome.wustl.edu 37 3 157817736 157817736 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006884.3 -1 reviewed p.G205 0.905 63 0% 51 23.5% 0 - - - - superfamily_Homeodomain-like RSRC1 51319 genome.wustl.edu 37 3 157841711 157841711 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016625.2 +1 provisional p.R84Q 1.000 251 0% 142 29.6% 21 61.9% unknown(0) tolerated(0.15) - NULL MLF1 4291 genome.wustl.edu 37 3 158320723 158320723 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022443.3 +1 validated p.K232N 0.740 87 0% 70 30% 0 - benign(0.344) tolerated(0.05) neutral(0.454) NULL GFM1 85476 genome.wustl.edu 37 3 158371188 158371188 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024996.5 +1 reviewed p.L310F 0.847 116 0% 97 32% 17 29.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GTP_EFTU,superfamily_Translat_factor,superfamily_SSF52540 IQCJ 654502 genome.wustl.edu 37 3 158980489 158980489 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042706.1 +1 provisional p.L103P 0.002 161 0% 126 30.2% 0 - benign(0) - - NULL IFT80 57560 genome.wustl.edu 37 3 160099507 160099507 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020800.1 -1 validated p.E15* 1.000 227 0% 207 25.1% 0 - - - - HMMSmart_WD40,superfamily_WD40_like SMC4 10051 genome.wustl.edu 37 3 160143977 160143977 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002800.1 +1 validated p.A865V 0.005 349 0% 292 29.8% 24 45.8% benign(0) tolerated(0.23) neutral(0.042) HMMPfam_SMC_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC4 10051 genome.wustl.edu 37 3 160151484 160151484 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002800.1 +1 validated p.R1252* 1.000 57 0% 55 16.4% 16 18.7% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM59 286827 genome.wustl.edu 37 3 160156467 160156467 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173084.2 -1 validated p.E169* 0.394 235 0.4% 220 33.6% 6 0% - - - NULL TRIM59 286827 genome.wustl.edu 37 3 160156820 160156820 + Missense_Mutation SNP C C T rs139273294 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173084.2 -1 validated p.R51Q 1.000 153 0% 138 29% 0 - possibly_damaging(0.451) tolerated(0.25) neutral(0.184) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box KPNA4 3840 genome.wustl.edu 37 3 160233358 160233358 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002268.3 -1 reviewed p.L305R 0.999 64 0% 52 28.8% 46 39.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat KPNA4 3840 genome.wustl.edu 37 3 160243875 160243875 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002268.3 -1 reviewed p.D193Y 1.000 207 0% 131 24.4% 29 55.1% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat NMD3 51068 genome.wustl.edu 37 3 160955951 160955951 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015938.3 +1 provisional p.E210K 1.000 275 0% 200 18.5% 28 25% benign(0.273) deleterious(0) deleterious(0.474) HMMPfam_NMD3 OTOL1 131149 genome.wustl.edu 37 3 161214761 161214761 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080440.1 +1 provisional p.E56* 0.385 153 0% 130 36.2% 0 - - - - NULL SI 6476 genome.wustl.edu 37 3 164700198 164700198 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001041.3 -1 reviewed p.T1750A 0.321 107 0% 92 26.1% 0 - benign(0.001) tolerated(0.2) neutral(0.049) NULL SI 6476 genome.wustl.edu 37 3 164733851 164733851 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001041.3 -1 reviewed p.D1259 0.999 274 0% 208 34.1% 0 - - - - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164735602 164735602 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001041.3 -1 reviewed p.F1194V 1.000 134 0% 109 27.5% 0 - probably_damaging(0.994) tolerated(0.17) deleterious(0.511) NULL SI 6476 genome.wustl.edu 37 3 164741560 164741560 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001041.3 -1 reviewed p.S966Y 0.000 123 0% 113 21.2% 0 - possibly_damaging(0.639) deleterious(0.02) deleterious(0.607) HMMSmart_SM00018,superfamily_Trefoil SI 6476 genome.wustl.edu 37 3 164764646 164764646 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001041.3 -1 reviewed p.L624V 0.651 231 0% 155 28.4% 0 - possibly_damaging(0.65) deleterious(0.02) deleterious(0.611) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164776788 164776788 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001041.3 -1 reviewed p.I454T 0.998 108 0% 99 36.4% 0 - benign(0.066) deleterious(0) neutral(0.449) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164793793 164793793 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001041.3 -1 reviewed p.R3I 0.054 160 0% 140 31.4% 0 - unknown(0) deleterious(0.01) - NULL SLITRK3 22865 genome.wustl.edu 37 3 164907600 164907600 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014926.2 -1 validated p.R340Q 1.000 347 0% 378 30.7% 0 - probably_damaging(0.987) tolerated(0.41) neutral(0.452) NULL SLITRK3 22865 genome.wustl.edu 37 3 164907910 164907910 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014926.2 -1 validated p.T237A 1.000 246 0% 237 20.7% 0 - benign(0.267) tolerated(0.13) neutral(0.281) HMMSmart_LRRCT,superfamily_SSF52058 BCHE 590 genome.wustl.edu 37 3 165547490 165547490 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000055.2 -1 reviewed p.A444 0.008 240 0% 200 29% 0 - - - - HMMPfam_COesterase,superfamily_SSF53474 BCHE 590 genome.wustl.edu 37 3 165547825 165547825 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000055.2 -1 reviewed p.I333V 0.043 138 0% 127 29.1% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_COesterase,superfamily_SSF53474 ZBBX 79740 genome.wustl.edu 37 3 167039929 167039929 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024687.2 -1 validated p.K320T 1.000 194 0% 141 28.4% 0 - probably_damaging(0.955) tolerated(0.61) neutral(0.403) NULL SERPINI1 5274 genome.wustl.edu 37 3 167510405 167510405 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122752.1 +1 reviewed p.R170M 0.977 133 0% 101 32.7% 9 33.3% benign(0.052) deleterious(0.04) neutral(0.352) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINI1 5274 genome.wustl.edu 37 3 167510533 167510533 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122752.1 +1 reviewed p.Q213K 1.000 215 0% 169 23.7% 7 42.8% possibly_damaging(0.936) tolerated(0.52) neutral(0.390) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins MECOM 2122 genome.wustl.edu 37 3 168840424 168840424 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000494292 -1 known p.R308C 1.000 101 0% 86 25.6% 24 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SAMD7 344658 genome.wustl.edu 37 3 169644589 169644589 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182610.2 +1 provisional p.R180I 1.000 208 0% 180 26.1% 0 - benign(0.303) deleterious(0) deleterious(0.538) NULL SEC62 7095 genome.wustl.edu 37 3 169700621 169700621 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003262.3 +1 reviewed p.K126N 1.000 138 0.7% 144 15.3% 21 42.8% benign(0.099) tolerated(0.22) neutral(0.050) HMMPfam_Sec62 SEC62 7095 genome.wustl.edu 37 3 169710706 169710706 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003262.3 +1 reviewed p.R352Q 0.996 122 0% 100 10% 42 9.5% possibly_damaging(0.897) tolerated(0.38) neutral(0.371) NULL GPR160 26996 genome.wustl.edu 37 3 169801921 169801921 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014373.2 +1 validated p.F54C 0.817 188 0% 147 40.8% 4 25% possibly_damaging(0.811) deleterious(0) deleterious(0.750) NULL PRKCI 5584 genome.wustl.edu 37 3 169998045 169998045 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002740.5 +1 reviewed p.S246A 0.989 174 0% 148 27.7% 16 37.5% benign(0.001) tolerated(0.33) neutral(0.024) superfamily_Kinase_like SKIL 6498 genome.wustl.edu 37 3 170078829 170078829 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005414.3 +1 validated p.R237Q 0.989 126 0% 127 28.3% 5 20% possibly_damaging(0.549) tolerated(0.29) neutral(0.215) NULL SKIL 6498 genome.wustl.edu 37 3 170110205 170110205 + Nonstop_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005414.3 +1 validated p.*685Y 0.992 143 0% 97 37.1% 6 16.6% - - - NULL SLC7A14 57709 genome.wustl.edu 37 3 170201210 170201210 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020949.2 -1 validated p.F336 0.037 104 0% 109 31.2% 0 - - - - HMMPfam_AA_permease RPL22L1 200916 genome.wustl.edu 37 3 170584219 170584219 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099645.1 -1 validated p.R107S 1.000 42 0% 31 22.6% 128 50% benign(0.195) deleterious(0.03) neutral(0.383) HMMPfam_Ribosomal_L22e RPL22L1 200916 genome.wustl.edu 37 3 170584255 170584255 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099645.1 -1 validated p.R95* 1.000 36 0% 25 36% 145 42% - - - HMMPfam_Ribosomal_L22e EIF5A2 56648 genome.wustl.edu 37 3 170625586 170625586 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020390.5 -1 validated p.E4K 1.000 150 0% 136 35.3% 3 33.3% benign(0.245) tolerated(0.12) neutral(0.286) NULL SLC2A2 6514 genome.wustl.edu 37 3 170715824 170715824 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000340.1 -1 reviewed p.F481L 0.996 189 0% 149 33.6% 0 - benign(0.201) deleterious(0.01) neutral(0.425) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter SLC2A2 6514 genome.wustl.edu 37 3 170715862 170715862 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000340.1 -1 reviewed p.F469V 1.000 186 0% 168 27.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter SLC2A2 6514 genome.wustl.edu 37 3 170723223 170723223 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000340.1 -1 reviewed p.D272Y 1.000 94 0% 104 24% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter TNIK 23043 genome.wustl.edu 37 3 170802052 170802052 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015028.2 -1 validated p.S1021T 1.000 179 0% 131 27.5% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) NULL TNIK 23043 genome.wustl.edu 37 3 170857267 170857267 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015028.2 -1 validated p.L471I 0.985 215 0% 184 28.3% 0 - unknown(0) tolerated(0.14) - NULL TNIK 23043 genome.wustl.edu 37 3 170884948 170884948 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015028.2 -1 validated p.E295 0.990 40 0% 49 30.6% 0 - - - - superfamily_Protein kinase-like (PK-like) TNIK 23043 genome.wustl.edu 37 3 170912377 170912377 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015028.2 -1 validated p.K118N 1.000 340 0% 305 31.8% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PLD1 5337 genome.wustl.edu 37 3 171321010 171321010 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002662.3 -1 validated p.E1028G 0.966 143 0% 96 33.3% 1 0% benign(0.051) tolerated(0.29) neutral(0.032) NULL PLD1 5337 genome.wustl.edu 37 3 171395477 171395477 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000342215 -1 known p.G516D 0.999 264 0% 240 30.8% 1 0% benign(0.002) tolerated(0.54) neutral(0.007) NULL NCEH1 57552 genome.wustl.edu 37 3 172365852 172365852 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020792.4 -1 validated p.F96C 0.997 93 0% 82 31.7% 7 57.1% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) NULL ECT2 1894 genome.wustl.edu 37 3 172477994 172477994 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018098.4 +1 reviewed p.D178Y 1.000 151 0% 99 30.3% 9 22.2% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain NLGN1 22871 genome.wustl.edu 37 3 173998365 173998365 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014932.2 +1 reviewed p.D582Y 1.000 229 0% 237 28.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_COesterase,superfamily_SSF53474 TBL1XR1 79718 genome.wustl.edu 37 3 176744219 176744219 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024665.4 -1 reviewed p.F487S 1.000 94 0% 75 28% 26 57.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_WD40,superfamily_WD40_like TBL1XR1 79718 genome.wustl.edu 37 3 176756101 176756101 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024665.4 -1 reviewed p.T349 1.000 34 0% 38 36.8% 18 55.5% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 KCNMB2 10242 genome.wustl.edu 37 3 178543377 178543377 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005832.3 +1 reviewed p.N20H 1.000 169 0% 257 28.4% 0 - possibly_damaging(0.813) deleterious(0.03) deleterious(0.671) HMMPfam_KcnmB2_inactiv PIK3CA 5290 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006218.2 +1 reviewed p.R88Q 1.000 251 0% 202 30.2% 2 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178952007 178952007 + Missense_Mutation SNP A A G rs121913288 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006218.2 +1 reviewed p.Y1021C 1.000 175 0% 170 27.6% 20 35% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PI3Kc,superfamily_Kinase_like ZNF639 51193 genome.wustl.edu 37 3 179051509 179051509 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016331.1 +1 provisional p.K253E 1.000 110 0% 107 36.4% 33 39.3% probably_damaging(0.99) deleterious(0.04) deleterious(0.790) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 ZNF639 51193 genome.wustl.edu 37 3 179051767 179051767 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016331.1 +1 provisional p.E339* 1.000 97 0% 113 31.9% 25 48% - - - HMMSmart_ZnF_C2H2 ZNF639 51193 genome.wustl.edu 37 3 179051896 179051896 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016331.1 +1 provisional p.R382W 1.000 171 0% 158 24.7% 28 28.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MRPL47 57129 genome.wustl.edu 37 3 179306713 179306713 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020409.2 -1 reviewed p.L234I 0.162 189 0% 133 27.1% 70 40% probably_damaging(0.999) tolerated(0.24) deleterious(0.528) NULL USP13 8975 genome.wustl.edu 37 3 179426598 179426598 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003940.2 +1 validated p.L220F 1.000 153 0% 167 28.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-UBP,HMMSmart_ZnF_UBP USP13 8975 genome.wustl.edu 37 3 179426715 179426715 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003940.2 +1 validated p.K259E 1.000 80 0% 79 25.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-UBP,HMMSmart_ZnF_UBP USP13 8975 genome.wustl.edu 37 3 179462841 179462841 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003940.2 +1 validated p.I515 0.738 134 0% 125 30.4% 4 50% - - - HMMPfam_UCH,superfamily_SSF54001 PEX5L 51555 genome.wustl.edu 37 3 179605499 179605499 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016559.1 -1 provisional p.S91L 1.000 393 0% 370 37% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL TTC14 151613 genome.wustl.edu 37 3 180321042 180321042 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133462.3 +1 validated p.F139 1.000 101 0% 92 28.3% 3 100% - - - superfamily_Nucleic acid-binding proteins FXR1 8087 genome.wustl.edu 37 3 180688137 180688137 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005087.2 +1 reviewed p.N532H 1.000 108 0% 89 31.5% 162 48.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SOX2 6657 genome.wustl.edu 37 3 181430259 181430259 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003106.2 +1 reviewed p.S37 1.000 24 0% 20 45% 6 83.3% - - - superfamily_HMG-box SOX2 6657 genome.wustl.edu 37 3 181430600 181430600 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003106.2 +1 reviewed p.A151V 1.000 14 0% 21 23.8% 11 45.4% benign(0) tolerated(0.1) neutral(0.286) NULL ATP11B 23200 genome.wustl.edu 37 3 182553853 182553853 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014616.1 +1 validated p.D116Y 1.000 138 0% 105 23.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase ATP11B 23200 genome.wustl.edu 37 3 182563301 182563301 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014616.1 +1 validated p.E254* 1.000 66 0% 67 28.4% 0 - - - - superfamily_SSF81653 ATP11B 23200 genome.wustl.edu 37 3 182566270 182566270 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014616.1 +1 validated p.A259V 1.000 80 0% 69 20.3% 0 - probably_damaging(0.99) tolerated(0.13) deleterious(0.694) superfamily_SSF81653 ATP11B 23200 genome.wustl.edu 37 3 182575703 182575703 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014616.1 +1 validated p.L297I 1.000 259 0% 169 30.8% 0 - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) NULL LAMP3 27074 genome.wustl.edu 37 3 182841876 182841876 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014398.3 -1 validated p.R415I 1.000 224 0% 234 15.8% 4 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Lamp MCF2L2 23101 genome.wustl.edu 37 3 182925575 182925575 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015078.2 -1 validated p.G845C 0.996 197 0% 221 29.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like B3GNT5 84002 genome.wustl.edu 37 3 182988629 182988629 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032047.4 +1 reviewed p.F348Y 0.453 133 0% 107 15% 1 0% possibly_damaging(0.446) deleterious(0.02) deleterious(0.529) NULL MCF2L2 23101 genome.wustl.edu 37 3 183056658 183056658 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015078.2 -1 validated p.R139H 0.995 188 1.1% 143 37.1% 0 - possibly_damaging(0.932) deleterious(0.01) deleterious(0.784) HMMSmart_SM00516 KLHL6 89857 genome.wustl.edu 37 3 183273245 183273245 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130446.2 -1 validated p.R66Q 0.668 263 0% 269 27.5% 0 - probably_damaging(0.977) deleterious(0.03) deleterious(0.783) superfamily_BTB/POZ_fold,HMMPfam_BTB KLHL24 54800 genome.wustl.edu 37 3 183368322 183368322 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017644.3 +1 validated p.R60C 1.000 268 0% 264 31.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_POZ domain,HMMPfam_BTB KLHL24 54800 genome.wustl.edu 37 3 183368546 183368546 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017644.3 +1 validated p.E134D 1.000 317 0% 296 29.7% 3 33.3% benign(0.001) tolerated(0.46) neutral(0.012) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB KLHL24 54800 genome.wustl.edu 37 3 183396958 183396958 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017644.3 +1 validated p.L563I 1.000 148 0% 170 41.2% 13 30.7% benign(0.052) tolerated(0.38) neutral(0.021) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain YEATS2 55689 genome.wustl.edu 37 3 183491565 183491565 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018023.4 +1 validated p.R784Q 1.000 164 0% 135 23.7% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL YEATS2 55689 genome.wustl.edu 37 3 183521963 183521963 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018023.4 +1 validated p.I1257 0.801 129 0% 177 34.5% 5 40% - - - NULL ABCC5 10057 genome.wustl.edu 37 3 183655744 183655744 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005688.2 -1 reviewed p.R1267* 1.000 141 0% 119 42% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC5 10057 genome.wustl.edu 37 3 183683248 183683248 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005688.2 -1 reviewed p.F625 1.000 193 0% 158 34.2% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases HTR3E 285242 genome.wustl.edu 37 3 183823624 183823624 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182589.2 +1 reviewed p.I279 0.029 230 0% 258 32.2% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM EIF2B5 8893 genome.wustl.edu 37 3 183855448 183855448 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003907.2 +1 reviewed p.R121* 1.000 93 0% 102 26.5% 14 0% - - - superfamily_SSF53448 AP2M1 1173 genome.wustl.edu 37 3 183897958 183897958 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004068.3 +1 reviewed p.E114D 1.000 35 0% 31 32.3% 308 38.9% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SNARE-like ABCF3 55324 genome.wustl.edu 37 3 183906551 183906551 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018358.2 +1 validated p.A280V 0.432 66 0% 69 20.3% 26 42.3% benign(0) tolerated(0.21) neutral(0.044) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ECE2 9718 genome.wustl.edu 37 3 184009972 184009972 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014693.3 +1 validated p.F866 1.000 58 0% 57 21.1% 0 - - - - "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" THPO 7066 genome.wustl.edu 37 3 184090715 184090715 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000452754 -1 known p.W211G 1.000 90 0% 113 31.9% 0 - benign(0.002) deleterious(0) neutral(0.445) NULL EPHB3 2049 genome.wustl.edu 37 3 184295487 184295487 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004443.3 +1 reviewed p.S507 0.003 38 0% 42 26.2% 5 0% - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like VPS8 23355 genome.wustl.edu 37 3 184542523 184542523 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009921.2 +1 validated p.K35Q 1.000 124 0% 103 25.2% 2 50% benign(0.139) deleterious(0) neutral(0.457) NULL C3orf70 285382 genome.wustl.edu 37 3 184801062 184801062 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001025266.1 -1 predicted p.V162 1.000 159 0% 125 35.2% 0 - - - - NULL EHHADH 1962 genome.wustl.edu 37 3 184935947 184935947 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001966.3 -1 reviewed p.I182T 0.994 359 0% 167 25.7% 0 - possibly_damaging(0.854) deleterious(0.05) deleterious(0.674) superfamily_SSF52096 MAP3K13 9175 genome.wustl.edu 37 3 185181353 185181353 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004721.3 +1 reviewed p.E432* 1.000 203 0% 184 23.4% 0 - - - - superfamily_Protein kinase-like (PK-like) LIPH 200879 genome.wustl.edu 37 3 185237031 185237031 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139248.2 -1 reviewed p.S262N 0.031 159 0% 190 22.1% 6 66.6% benign(0.001) tolerated(0.99) - HMMPfam_Lipase,superfamily_SSF53474 LIPH 200879 genome.wustl.edu 37 3 185251431 185251431 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139248.2 -1 reviewed p.G152R 1.000 304 0.3% 284 29.6% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Lipase,superfamily_SSF53474 LIPH 200879 genome.wustl.edu 37 3 185252576 185252576 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139248.2 -1 reviewed p.K132E 1.000 286 0% 294 27.6% 3 33.3% possibly_damaging(0.872) tolerated(0.19) neutral(0.389) HMMPfam_Lipase,superfamily_SSF53474 DGKG 1608 genome.wustl.edu 37 3 185993435 185993435 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001346.2 -1 reviewed p.R271W 1.000 52 0% 71 33.8% 0 - possibly_damaging(0.868) deleterious(0.02) deleterious(0.720) HMMSmart_SM00109,superfamily_Cysteine-rich domain TBCCD1 55171 genome.wustl.edu 37 3 186272842 186272842 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134415.1 -1 validated p.A297 0.829 201 0% 187 12.3% 6 16.6% - - - NULL DNAJB11 51726 genome.wustl.edu 37 3 186289891 186289891 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016306.4 +1 validated p.F26V 1.000 176 0% 180 25% 45 42.2% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain FETUB 26998 genome.wustl.edu 37 3 186370280 186370280 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014375.2 +1 reviewed p.E337* 0.171 452 0% 318 40.6% 0 - - - - NULL HRG 3273 genome.wustl.edu 37 3 186394974 186394974 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000412.2 +1 reviewed p.E294K 0.000 535 0.2% 515 29.3% 0 - benign(0) tolerated(0.53) neutral(0.007) NULL KNG1 3827 genome.wustl.edu 37 3 186450357 186450357 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102416.2 +1 reviewed p.S275N 1.000 154 0% 210 31.4% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Cystatin,HMMSmart_SM00043,superfamily_Cystatin/monellin KNG1 3827 genome.wustl.edu 37 3 186459803 186459803 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102416.2 +1 reviewed p.E540* 0.428 236 0% 294 28.9% 0 - - - - NULL RPL39L 116832 genome.wustl.edu 37 3 186839028 186839028 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052969.1 -1 reviewed p.R21C 0.026 188 0% 190 31.6% 6 0% benign(0.042) tolerated(0.05) neutral(0.348) HMMPfam_Ribosomal_L39,superfamily_Ribosomal_L39 MASP1 5648 genome.wustl.edu 37 3 187003617 187003617 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139125.3 -1 reviewed p.V78A 1.000 199 0% 218 35.3% 0 - possibly_damaging(0.639) tolerated(0.12) deleterious(0.484) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB BCL6 604 genome.wustl.edu 37 3 187447264 187447264 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130845.1 -1 reviewed p.D310G 1.000 137 0% 150 38% 5 0% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL TP63 8626 genome.wustl.edu 37 3 189455532 189455532 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003722.4 +1 reviewed p.F22 0.906 210 0% 193 36.3% 0 - - - - NULL FGF12 2257 genome.wustl.edu 37 3 191888348 191888348 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021032.3 -1 reviewed p.R171Q 1.000 536 0% 514 25.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FGF,HMMSmart_SM00442,superfamily_Cytokine MB21D2 151963 genome.wustl.edu 37 3 192516412 192516412 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178496.3 -1 validated p.T413 0.008 102 0% 106 23.6% 1 0% - - - NULL ATP13A5 344905 genome.wustl.edu 37 3 192992990 192992990 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198505.2 -1 provisional p.E1166D 0.987 245 0% 220 37.7% 0 - benign(0.01) tolerated(0.62) neutral(0.005) NULL ATP13A5 344905 genome.wustl.edu 37 3 193052828 193052828 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198505.2 -1 provisional p.K335T 0.982 255 0% 273 34.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 CPN2 1370 genome.wustl.edu 37 3 194062939 194062939 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080513.2 -1 validated p.F165V 0.996 29 0% 39 35.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_RNI-like GP5 2814 genome.wustl.edu 37 3 194118247 194118247 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004488.2 -1 validated p.A255 0.000 128 0% 88 27.3% 0 - - - - HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 ACAP2 23527 genome.wustl.edu 37 3 195017952 195017952 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012287.5 -1 validated p.K485T 1.000 242 0% 198 32.8% 7 42.8% probably_damaging(0.999) tolerated(0.37) deleterious(0.509) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain LOC651714 651714 genome.wustl.edu 37 3 195345849 195345849 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_078298.1 +1 model NULL 0.717 460 0% 389 8.7% 2 0% benign(0.038) deleterious(0) neutral(0.447) - MUC4 4585 genome.wustl.edu 37 3 195517978 195517978 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018406.5 -1 reviewed p.G158V 0.000 222 0% 278 36% 0 - probably_damaging(0.999) tolerated(0.44) deleterious(0.503) NULL TFRC 7037 genome.wustl.edu 37 3 195778940 195778940 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128148.1 -1 validated p.R719H 0.010 102 0% 98 14.3% 182 13.7% probably_damaging(0.996) tolerated(0.59) neutral(0.466) HMMPfam_TFR_dimer,superfamily_Transferrin receptor ectodomain C-terminal domain PCYT1A 5130 genome.wustl.edu 37 3 195966531 195966531 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005017.2 -1 provisional p.E262* 1.000 200 0% 159 35.2% 15 6.6% - - - NULL C3orf43 255798 genome.wustl.edu 37 3 196235137 196235137 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077657.1 -1 validated p.T89N 0.998 256 0% 222 31.5% 0 - possibly_damaging(0.647) tolerated(0.43) neutral(0.241) NULL C3orf43 255798 genome.wustl.edu 37 3 196235177 196235177 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077657.1 -1 validated p.L76V 0.022 199 0% 194 34.5% 0 - benign(0) tolerated(0.33) neutral(0.024) NULL LRRC33 375387 genome.wustl.edu 37 3 196386659 196386659 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198565.1 +1 provisional p.A49T 0.001 27 0% 24 33.3% 6 50% benign(0) tolerated(0.61) neutral(0.004) superfamily_SSF52058 LRRC33 375387 genome.wustl.edu 37 3 196387045 196387045 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198565.1 +1 provisional p.F177 0.940 27 0% 23 21.7% 0 - - - - superfamily_SSF52058 LRRC33 375387 genome.wustl.edu 37 3 196387780 196387780 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198565.1 +1 provisional p.F422 0.007 88 0% 71 43.7% 4 0% - - - HMMSmart_LRR_TYP,superfamily_SSF52058 PIGX 54965 genome.wustl.edu 37 3 196454800 196454800 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017861.3 +1 reviewed p.M68L 0.981 276 0% 235 26% 11 27.2% benign(0.002) tolerated(1) - HMMPfam_PIG-X,HMMSmart_PIG-X NCBP2 22916 genome.wustl.edu 37 3 196664404 196664404 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007362.3 -1 reviewed p.G126S 1.000 96 0% 80 27.5% 54 42.5% probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_RNA-binding domain RBD IQCG 84223 genome.wustl.edu 37 3 197659062 197659062 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134435.1 -1 validated p.F209 0.999 238 0.4% 233 32.2% 12 41.6% - - - NULL IQCG 84223 genome.wustl.edu 37 3 197665621 197665621 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134435.1 -1 validated p.N105H 0.001 395 0% 269 33.1% 9 55.5% possibly_damaging(0.512) tolerated(0.09) neutral(0.468) NULL ZNF732 654254 genome.wustl.edu 37 4 265248 265248 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001137608.1 -1 provisional p.K466N 0.691 94 0% 87 33.3% 0 - benign(0.325) tolerated(0.11) neutral(0.373) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF732 654254 genome.wustl.edu 37 4 265837 265837 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001137608.1 -1 provisional p.R270I 0.953 81 0% 105 22.9% 0 - benign(0.053) tolerated(0.28) neutral(0.035) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF48695 ZNF732 654254 genome.wustl.edu 37 4 266396 266396 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001137608.1 -1 provisional p.D84Y 0.108 78 0% 94 28.7% 0 - possibly_damaging(0.769) deleterious(0) deleterious(0.730) NULL ZNF141 7700 genome.wustl.edu 37 4 367218 367218 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003441.2 +1 validated p.E331* 0.834 395 0% 408 28.7% 1 0% probably_damaging(1) tolerated(0.22) deleterious(0.542) NULL ZNF721 170960 genome.wustl.edu 37 4 436024 436024 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133474.2 -1 validated p.K744 0.028 103 0% 107 29.9% 3 0% - - - superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 437282 437282 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133474.2 -1 validated p.R325I 0.342 271 0% 267 30.3% 3 0% benign(0.032) tolerated(0.14) neutral(0.251) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 437664 437664 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133474.2 -1 validated p.R198C 0.002 180 0.6% 176 30.7% 1 100% probably_damaging(0.982) tolerated(1) neutral(0.426) NULL PDE6B 5158 genome.wustl.edu 37 4 654306 654306 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000283.3 +1 reviewed p.F506L 1.000 14 0% 16 56.2% 0 - benign(0.157) deleterious(0) neutral(0.459) superfamily_HD-domain/PDEase-like PDE6B 5158 genome.wustl.edu 37 4 663869 663869 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000283.3 +1 reviewed p.P846 0.992 59 0% 45 22.2% 2 0% - - - NULL IDUA 3425 genome.wustl.edu 37 4 995272 995272 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000504568 +1 known p.R157H 0.000 20 0% 15 53.3% 16 25% - - - HMMPfam_Glyco_hydro_39,superfamily_(Trans)glycosidases RNF212 285498 genome.wustl.edu 37 4 1073468 1073468 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001131034.1 -1 validated p.S158L 0.856 50 0% 53 22.6% 0 - possibly_damaging(0.749) deleterious(0.01) deleterious(0.681) NULL RNF212 285498 genome.wustl.edu 37 4 1075399 1075399 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001131034.1 -1 validated p.S124* 0.006 15 0% 32 21.9% 1 0% - - - NULL KIAA1530 57654 genome.wustl.edu 37 4 1348977 1348977 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020894.2 +1 validated p.V374I 0.002 11 0% 16 50% 0 - benign(0.111) tolerated(0.07) neutral(0.328) NULL KIAA1530 57654 genome.wustl.edu 37 4 1360186 1360186 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020894.2 +1 validated p.P419T 1.000 49 0% 32 43.8% 1 0% possibly_damaging(0.918) tolerated(0.15) deleterious(0.609) NULL LETM1 3954 genome.wustl.edu 37 4 1824024 1824024 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012318.2 -1 reviewed p.E498K 0.070 34 0% 22 54.5% 25 36% benign(0) tolerated(0.56) neutral(0.006) NULL WHSC1 7468 genome.wustl.edu 37 4 1952839 1952839 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042424.2 +1 reviewed p.Y641C 0.292 86 0% 49 24.5% 9 77.7% possibly_damaging(0.77) tolerated(0.18) neutral(0.342) NULL WHSC2 7469 genome.wustl.edu 37 4 1985408 1985408 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005663.3 -1 reviewed p.F450 0.906 27 0% 21 28.6% 44 52.2% - - - NULL FAM193A 8603 genome.wustl.edu 37 4 2692508 2692508 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003704.3 +1 validated p.S581P 0.000 100 0% 72 25% 13 69.2% benign(0) tolerated(0.13) neutral(0.253) NULL GRK4 2868 genome.wustl.edu 37 4 2993973 2993973 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182982.2 +1 reviewed p.R98Q 0.001 50 0% 66 28.8% 0 - benign(0.14) tolerated(0.13) neutral(0.265) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS GRK4 2868 genome.wustl.edu 37 4 3021551 3021551 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182982.2 +1 reviewed p.V309I 1.000 98 0% 114 36% 0 - possibly_damaging(0.667) tolerated(0.16) neutral(0.295) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HTT 3064 genome.wustl.edu 37 4 3105587 3105587 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002111.6 +1 reviewed p.E169K 1.000 413 0% 341 29.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat HTT 3064 genome.wustl.edu 37 4 3156069 3156069 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002111.6 +1 reviewed p.R1183Q 0.934 40 0% 29 27.6% 5 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HTT 3064 genome.wustl.edu 37 4 3241786 3241786 + Nonstop_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002111.6 +1 reviewed p.*3143C 0.995 7 0.000 6 0.667 34 38.2% - - - NULL RGS12 6002 genome.wustl.edu 37 4 3418677 3418677 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198229.2 +1 reviewed p.F822C 1.000 31 0% 29 24.1% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS STK32B 55351 genome.wustl.edu 37 4 5399935 5399935 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018401.1 +1 provisional p.D146Y 1.000 173 0% 147 24.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EVC2 132884 genome.wustl.edu 37 4 5564623 5564623 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_147127.4 -1 reviewed p.K1293N 1.000 412 0% 310 30% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EVC2 132884 genome.wustl.edu 37 4 5576460 5576460 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_147127.4 -1 reviewed p.D1104E 0.221 151 0% 123 24.4% 0 - probably_damaging(0.995) tolerated(0.12) deleterious(0.718) NULL EVC2 132884 genome.wustl.edu 37 4 5690918 5690918 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_147127.4 -1 reviewed p.E224D 0.034 141 0% 122 29.5% 0 - benign(0) tolerated(0.62) neutral(0.004) NULL EVC2 132884 genome.wustl.edu 37 4 5696081 5696081 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_147127.4 -1 reviewed p.S144Y 0.969 161 0% 121 14% 0 - probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL CRMP1 1400 genome.wustl.edu 37 4 5830236 5830236 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001014809.1 -1 reviewed p.R595C 1.000 31 0% 33 30.3% 4 0% probably_damaging(0.987) deleterious(0.05) deleterious(0.782) NULL JAKMIP1 152789 genome.wustl.edu 37 4 6031469 6031469 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099433.1 -1 validated p.R807W 0.345 35 0% 22 22.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MRFAP1 93621 genome.wustl.edu 37 4 6642660 6642660 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033296.1 +1 provisional p.F24S 0.994 84 0% 92 32.6% 299 34.4% benign(0.17) deleterious(0) neutral(0.460) NULL KIAA0232 9778 genome.wustl.edu 37 4 6865199 6865199 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100590.1 +1 validated p.V1030 0.788 183 0% 210 28.6% 1 100% - - - NULL PSAPL1 768239 genome.wustl.edu 37 4 7435284 7435284 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085382.1 -1 validated p.F441 0.329 20 0% 22 27.3% 0 - - - - HMMPfam_SapB_2,HMMSmart_SapB,superfamily_Saposin_like SORCS2 57537 genome.wustl.edu 37 4 7714542 7714542 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020777.2 +1 reviewed p.E651K 0.856 47 0% 51 31.4% 0 - benign(0.344) tolerated(0.21) neutral(0.152) HMMSmart_SM00602 SH3TC1 54436 genome.wustl.edu 37 4 8242556 8242556 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018986.3 +1 validated p.E1295D 1.000 59 0% 34 14.7% 11 45.4% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_TPR-like METTL19 152992 genome.wustl.edu 37 4 8467124 8467124 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152544.1 +1 provisional p.F52V 0.998 107 0% 77 27.3% 4 100% benign(0.056) deleterious(0.01) neutral(0.409) HMMPfam_AdoMet_MTase ENSG00000219492 0 genome.wustl.edu 37 4 9387377 9387377 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000402465 -1 known p.F111V 0.847 131 0% 124 25% 0 - - - - NULL LOC100133128 100133128 genome.wustl.edu 37 4 9400966 9400966 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001720802.1 +1 model p.F13V 0.662 139 0% 145 31% 0 - - - - NULL DRD5 1816 genome.wustl.edu 37 4 9783920 9783920 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000798.4 +1 reviewed p.F89 0.992 60 0% 67 29.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DRD5 1816 genome.wustl.edu 37 4 9784342 9784342 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000798.4 +1 reviewed p.S230L 1.000 85 0% 100 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DRD5 1816 genome.wustl.edu 37 4 9784685 9784685 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000798.4 +1 reviewed p.F344 0.998 126 0% 135 32.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF518B 85460 genome.wustl.edu 37 4 10446011 10446011 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053042.2 -1 validated p.E648K 0.464 191 0% 232 33.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF518B 85460 genome.wustl.edu 37 4 10447853 10447853 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053042.2 -1 validated p.R34W 0.027 207 0% 206 26.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL HS3ST1 9957 genome.wustl.edu 37 4 11400898 11400898 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005114.2 -1 reviewed p.S244 0.156 18 0% 24 25% 16 18.7% - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases CC2D2A 57545 genome.wustl.edu 37 4 15511840 15511840 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080522.2 +1 reviewed p.R173* 0.828 220 0% 205 29.3% 1 0% - - - NULL CC2D2A 57545 genome.wustl.edu 37 4 15565027 15565027 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080522.2 +1 reviewed p.R1022W 1.000 38 0% 26 26.9% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CD38 952 genome.wustl.edu 37 4 15818230 15818230 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001775.2 +1 validated p.M110I 0.000 315 0% 264 29.9% 2 0% benign(0.002) tolerated(0.82) neutral(0.001) HMMPfam_Rib_hydrolayse,superfamily_ADP ribosyl cyclase-like CD38 952 genome.wustl.edu 37 4 15826525 15826525 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001775.2 +1 validated p.K129Q 0.000 317 0% 296 27.4% 4 0% benign(0.118) tolerated(0.23) neutral(0.051) HMMPfam_Rib_hydrolayse,superfamily_ADP ribosyl cyclase-like PROM1 8842 genome.wustl.edu 37 4 16010678 16010678 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006017.2 -1 reviewed p.R399C 0.000 94 0% 70 34.3% 2 0% benign(0.026) tolerated(0.06) neutral(0.324) HMMPfam_Prominin LDB2 9079 genome.wustl.edu 37 4 16513690 16513690 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000507464 -1 known p.R140* 1.000 201 0.5% 181 24.3% 8 0% possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_LIM_bind NCAPG 64151 genome.wustl.edu 37 4 17844978 17844978 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022346.3 +1 validated p.R993Q 1.000 302 0% 240 23.3% 20 15% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL SLIT2 9353 genome.wustl.edu 37 4 20570571 20570571 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004787.1 +1 provisional p.S1011Y 1.000 141 0% 106 24.5% 4 75% possibly_damaging(0.823) deleterious(0) deleterious(0.756) HMMSmart_SM00179,HMMSmart_SM00274,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin SLIT2 9353 genome.wustl.edu 37 4 20620432 20620432 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004787.1 +1 provisional p.K1464Q 1.000 85 0% 66 34.8% 8 37.5% benign(0.067) tolerated(0.3) neutral(0.033) HMMSmart_SM00041 KCNIP4 80333 genome.wustl.edu 37 4 20731737 20731737 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_147183.3 -1 reviewed p.R220C 1.000 141 0% 97 26.8% 1 100% benign(0.016) deleterious(0.02) neutral(0.384) superfamily_EF-hand KCNIP4 80333 genome.wustl.edu 37 4 20760497 20760497 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_147183.3 -1 reviewed p.V81A 1.000 164 0.6% 149 30.9% 0 - benign(0) tolerated(0.1) neutral(0.286) superfamily_EF-hand GPR125 166647 genome.wustl.edu 37 4 22389806 22389806 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145290.2 -1 validated p.R1163Q 1.000 213 0% 144 25.7% 10 0% probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL GPR125 166647 genome.wustl.edu 37 4 22390012 22390012 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145290.2 -1 validated p.A1094 0.679 160 0% 168 24.4% 11 18.1% - - - NULL GPR125 166647 genome.wustl.edu 37 4 22390389 22390389 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145290.2 -1 validated p.E969K 0.862 311 0% 305 26.2% 8 0% benign(0.018) tolerated(0.84) neutral(0.001) HMMPfam_7tm_2 GPR125 166647 genome.wustl.edu 37 4 22415374 22415374 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145290.2 -1 validated p.E625* 1.000 89 0% 109 27.5% 2 0% - - - NULL GBA3 57733 genome.wustl.edu 37 4 22749162 22749162 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020973.3 +1 validated p.G177D 1.000 205 0% 187 30.5% 0 - probably_damaging(1) tolerated(0.3) deleterious(0.528) HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases LGI2 55203 genome.wustl.edu 37 4 25005634 25005634 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018176.3 -1 validated p.K359N 0.991 304 0% 312 29.2% 0 - benign(0.01) tolerated(1) neutral(0.001) HMMPfam_EPTP LGI2 55203 genome.wustl.edu 37 4 25028499 25028499 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018176.3 -1 validated p.L111R 0.992 96 0% 84 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like SEL1L3 23231 genome.wustl.edu 37 4 25769163 25769163 + Silent SNP G G A rs182680181 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015187.3 -1 validated p.I943 1.000 44 0% 43 16.3% 66 7.5% - - - superfamily_HCP-like TBC1D19 55296 genome.wustl.edu 37 4 26750037 26750037 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018317.2 +1 validated p.R442C 1.000 239 0.4% 197 28.4% 14 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p ARAP2 116984 genome.wustl.edu 37 4 36069541 36069541 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015230.2 -1 reviewed p.Q1701H 0.002 229 0% 216 29.6% 0 - benign(0) tolerated(0.2) neutral(0.049) NULL ARAP2 116984 genome.wustl.edu 37 4 36150117 36150117 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015230.2 -1 reviewed p.I970 1.000 64 0% 53 30.2% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARAP2 116984 genome.wustl.edu 37 4 36152535 36152535 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015230.2 -1 reviewed p.Y962H 1.000 124 0.8% 113 30.1% 0 - possibly_damaging(0.649) tolerated(0.46) neutral(0.240) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARAP2 116984 genome.wustl.edu 37 4 36166725 36166725 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015230.2 -1 reviewed p.E662K 1.000 169 0% 143 25.9% 0 - possibly_damaging(0.858) deleterious(0.02) deleterious(0.714) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARAP2 116984 genome.wustl.edu 37 4 36212090 36212090 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015230.2 -1 reviewed p.I470T 0.994 171 0% 173 26% 0 - unknown(0) - - superfamily_PH domain-like ARAP2 116984 genome.wustl.edu 37 4 36230358 36230358 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015230.2 -1 reviewed p.E251* 1.000 284 0% 247 32.4% 0 - - - - NULL ARAP2 116984 genome.wustl.edu 37 4 36230456 36230456 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015230.2 -1 reviewed p.S218F 0.042 345 0% 293 29.7% 1 0% benign(0.029) deleterious(0) neutral(0.446) NULL C4orf19 55286 genome.wustl.edu 37 4 37592561 37592561 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001104629.1 +1 validated p.A295V 0.998 92 0% 98 32.7% 0 - unknown(0) deleterious(0) - NULL TLR10 81793 genome.wustl.edu 37 4 38775615 38775615 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017388.1 -1 reviewed p.F533V 0.999 323 0% 262 31.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_LRRCT,superfamily_SSF52058 TLR1 7096 genome.wustl.edu 37 4 38798531 38798531 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003263.3 -1 reviewed p.I641T 1.000 306 0% 293 29.4% 1 0% possibly_damaging(0.438) deleterious(0) deleterious(0.588) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain TLR1 7096 genome.wustl.edu 37 4 38799459 38799459 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003263.3 -1 reviewed p.T332A 0.989 135 0% 129 25.6% 1 0% probably_damaging(0.999) tolerated(0.22) deleterious(0.532) superfamily_L domain-like,superfamily_Outer arm dynein light chain 1 TLR6 10333 genome.wustl.edu 37 4 38828952 38828952 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006068.3 -1 validated p.E715K 1.000 251 0% 234 33.8% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR KLHL5 51088 genome.wustl.edu 37 4 39064252 39064252 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015990.4 +1 validated p.D40N 1.000 236 0% 239 29.7% 0 - possibly_damaging(0.507) deleterious(0) deleterious(0.614) NULL KLHL5 51088 genome.wustl.edu 37 4 39082796 39082796 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015990.4 +1 validated p.E260* 1.000 139 0% 113 36.3% 7 28.5% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB KLHL5 51088 genome.wustl.edu 37 4 39114672 39114672 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015990.4 +1 validated p.S620Y 1.000 77 0% 49 32.7% 8 0% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain WDR19 57728 genome.wustl.edu 37 4 39245931 39245931 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025132.3 +1 reviewed p.R829* 0.993 224 0% 151 27.2% 1 0% - - - superfamily_TPR-like KLB 152831 genome.wustl.edu 37 4 39409220 39409220 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175737.3 +1 validated p.I217 0.989 241 0% 220 26.4% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat RPL9 6133 genome.wustl.edu 37 4 39456527 39456527 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000661.4 -1 reviewed p.E143D 0.998 74 0% 71 26.8% 802 39.4% possibly_damaging(0.925) deleterious(0) deleterious(0.818) HMMPfam_Ribosomal_L6,superfamily_Ribosomal protein L6 RPL9 6133 genome.wustl.edu 37 4 39459252 39459252 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000661.4 -1 reviewed p.R71Q 1.000 70 0% 69 27.5% 711 36.2% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Ribosomal_L6,superfamily_Ribosomal protein L6 N4BP2 55728 genome.wustl.edu 37 4 40103771 40103771 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018177.3 +1 reviewed p.F102 0.000 199 0% 154 29.9% 0 - - - - NULL RBM47 54502 genome.wustl.edu 37 4 40440317 40440317 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098634.1 -1 validated p.F198 0.974 63 0% 46 39.1% 26 30.7% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NSUN7 79730 genome.wustl.edu 37 4 40776320 40776320 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024677.4 +1 validated p.R176Q 1.000 137 0% 119 28.6% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL NSUN7 79730 genome.wustl.edu 37 4 40800884 40800884 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024677.4 +1 validated p.E455K 1.000 92 0% 69 17.4% 0 - benign(0.252) tolerated(0.48) neutral(0.036) superfamily_S-adenosyl-L-methionine-dependent methyltransferases LIMCH1 22998 genome.wustl.edu 37 4 41601005 41601005 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014988.2 +1 validated p.P102 0.227 136 0% 111 30.6% 1 0% - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain LIMCH1 22998 genome.wustl.edu 37 4 41648621 41648621 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014988.2 +1 validated p.R459H 1.000 570 0.2% 531 11.9% 4 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL DCAF4L1 285429 genome.wustl.edu 37 4 41983924 41983924 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029955.3 +1 validated p.V39I 0.483 113 0% 122 13.1% 0 - benign(0.085) tolerated(0.52) neutral(0.015) superfamily_WD40 repeat-like BEND4 389206 genome.wustl.edu 37 4 42122192 42122192 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207406.3 -1 validated p.V422 0.997 67 0% 64 28.1% 0 - - - - HMMPfam_BEN ATP8A1 10396 genome.wustl.edu 37 4 42627685 42627685 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006095.2 -1 reviewed p.Y70 1.000 150 0% 127 28.3% 0 - - - - NULL KCTD8 386617 genome.wustl.edu 37 4 44177208 44177208 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198353.2 -1 validated p.V341F 0.973 222 0% 146 36.3% 0 - probably_damaging(0.975) tolerated(0.05) deleterious(0.762) NULL GABRA2 2555 genome.wustl.edu 37 4 46264055 46264055 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000807.2 -1 reviewed p.F316C 1.000 245 0% 191 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRA2 2555 genome.wustl.edu 37 4 46264143 46264143 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000807.2 -1 reviewed p.V287I 1.000 176 0% 147 29.3% 0 - possibly_damaging(0.935) tolerated(1) neutral(0.381) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRA2 2555 genome.wustl.edu 37 4 46314593 46314593 + Missense_Mutation SNP T T A rs279858 byCluster;byFrequency;bySubmitter;by2Hit2Allele;byHapMap;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000807.2 -1 reviewed p.K132N 0.949 138 0% 128 39.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRA4 2557 genome.wustl.edu 37 4 46930591 46930591 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000809.2 -1 reviewed p.A439V 0.908 153 0% 121 28.9% 0 - benign(0) tolerated(0.23) neutral(0.042) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRB1 2560 genome.wustl.edu 37 4 47034018 47034018 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000812.3 +1 reviewed p.F56 1.000 172 0% 107 37.4% 0 - benign(0.011) deleterious(0.01) neutral(0.406) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRB1 2560 genome.wustl.edu 37 4 47408817 47408817 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000812.3 +1 reviewed p.F318L 1.000 163 0% 132 28% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRB1 2560 genome.wustl.edu 37 4 47408856 47408856 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000812.3 +1 reviewed p.F331L 1.000 151 0% 131 15.3% 0 - possibly_damaging(0.663) deleterious(0.04) deleterious(0.583) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM CNGA1 1259 genome.wustl.edu 37 4 47938893 47938893 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142564.1 -1 reviewed p.D609N 1.000 370 0% 340 12.9% 0 - possibly_damaging(0.906) tolerated(0.32) neutral(0.384) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like TXK 7294 genome.wustl.edu 37 4 48114415 48114415 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003328.2 -1 validated p.E97K 1.000 293 0% 210 30.5% 0 - benign(0.028) tolerated(0.11) neutral(0.273) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 TEC 7006 genome.wustl.edu 37 4 48165743 48165743 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003215.2 -1 reviewed p.K238T 1.000 24 0% 16 25% 0 - benign(0.001) tolerated(0.49) neutral(0.011) HMMSmart_SM00326,superfamily_SH2 domain SLC10A4 201780 genome.wustl.edu 37 4 48490749 48490749 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152679.3 +1 validated p.L369 0.515 67 0% 58 48.3% 0 - - - - NULL FRYL 285527 genome.wustl.edu 37 4 48580997 48580997 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015030.1 -1 validated p.D841N 1.000 212 0% 221 26.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48607814 48607814 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015030.1 -1 validated p.D260Y 1.000 225 0% 196 31.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat OCIAD1 54940 genome.wustl.edu 37 4 48835483 48835483 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079839.2 +1 validated p.S42R 1.000 78 0% 60 36.7% 93 45.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_OCIA OCIAD1 54940 genome.wustl.edu 37 4 48859332 48859332 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079839.2 +1 validated p.K217R 1.000 280 0% 160 25.6% 114 47.3% benign(0.089) tolerated(0.3) neutral(0.035) NULL DCUN1D4 23142 genome.wustl.edu 37 4 52729602 52729602 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040402.1 +1 validated e2-1 1.000 310 0% 246 35% 0 - - - - - DCUN1D4 23142 genome.wustl.edu 37 4 52765488 52765488 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040402.1 +1 validated p.L187V 1.000 182 0% 117 30.8% 5 80% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_DUF298 USP46 64854 genome.wustl.edu 37 4 53463854 53463854 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022832.3 -1 validated p.S351 1.000 40 0% 34 20.6% 4 50% - - - HMMPfam_UCH,superfamily_Cysteine proteinases SCFD2 152579 genome.wustl.edu 37 4 53751933 53751933 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152540.3 -1 validated p.S648L 0.065 212 0% 184 25% 29 27.5% possibly_damaging(0.664) tolerated(0.76) neutral(0.236) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins SCFD2 152579 genome.wustl.edu 37 4 54218806 54218806 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152540.3 -1 validated p.E322D 0.000 108 0% 69 21.7% 7 14.2% benign(0) tolerated(0.77) neutral(0.001) NULL LNX1 84708 genome.wustl.edu 37 4 54424125 54424125 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032622.2 -1 reviewed p.A3V 1.000 103 0% 83 12% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PDGFRA 5156 genome.wustl.edu 37 4 55130056 55130056 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006206.4 +1 reviewed p.K197T 0.601 126 0% 106 33% 5 0% benign(0) tolerated(0.42) neutral(0.014) HMMSmart_SM00409,superfamily_Immunoglobulin PDGFRA 5156 genome.wustl.edu 37 4 55139855 55139855 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006206.4 +1 reviewed p.L506F 0.000 41 0% 52 23.1% 5 0% benign(0.001) deleterious(0.03) neutral(0.364) superfamily_Immunoglobulin PDGFRA 5156 genome.wustl.edu 37 4 55143657 55143657 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006206.4 +1 reviewed p.K630T 1.000 34 0% 49 36.7% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PDGFRA 5156 genome.wustl.edu 37 4 55146592 55146592 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006206.4 +1 reviewed p.D756N 1.000 98 0% 89 33.7% 11 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PDGFRA 5156 genome.wustl.edu 37 4 55161431 55161431 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006206.4 +1 reviewed p.F1088V 1.000 354 0% 293 30.4% 15 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL KIT 3815 genome.wustl.edu 37 4 55564494 55564494 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000222.2 +1 reviewed p.E128K 1.000 52 0% 51 31.4% 0 - possibly_damaging(0.951) tolerated(0.13) deleterious(0.647) superfamily_SSF48726 KDR 3791 genome.wustl.edu 37 4 55953774 55953774 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002253.2 -1 reviewed p.S1221N 1.000 127 0% 106 23.6% 6 0% probably_damaging(0.956) tolerated(0.16) neutral(0.459) NULL KDR 3791 genome.wustl.edu 37 4 55953884 55953884 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002253.2 -1 reviewed p.L1184F 1.000 200 0% 141 28.4% 5 0% probably_damaging(1) tolerated(0.28) deleterious(0.531) NULL KDR 3791 genome.wustl.edu 37 4 55955096 55955096 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002253.2 -1 reviewed p.R1150I 1.000 141 0% 90 28.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like KDR 3791 genome.wustl.edu 37 4 55961109 55961109 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002253.2 -1 reviewed p.R944Q 0.764 187 0% 191 30.4% 3 0% benign(0.027) tolerated(0.27) neutral(0.035) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like PDCL2 132954 genome.wustl.edu 37 4 56428711 56428711 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152401.2 -1 reviewed p.F144C 1.000 135 0% 128 29.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Phosducin,superfamily_Thiordxn-like_fd EXOC1 55763 genome.wustl.edu 37 4 56768639 56768639 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001024924.1 +1 reviewed p.K823Q 1.000 119 0% 132 28.8% 28 32.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Sec3 CEP135 9662 genome.wustl.edu 37 4 56851494 56851494 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025009.3 +1 validated p.T609 0.951 95 0% 81 32.1% 0 - - - - NULL KIAA1211 57482 genome.wustl.edu 37 4 57193821 57193821 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020722.1 +1 validated p.D1185N 0.995 313 0% 287 31.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AASDH 132949 genome.wustl.edu 37 4 57204574 57204574 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181806.2 -1 validated p.Q1097H 0.709 147 0% 76 26.3% 2 100% benign(0) deleterious(0.05) neutral(0.345) superfamily_Quinoprotein alcohol dehydrogenase-like AASDH 132949 genome.wustl.edu 37 4 57237741 57237741 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181806.2 -1 validated p.V246A 1.000 181 0% 138 34.1% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like PPAT 5471 genome.wustl.edu 37 4 57261630 57261630 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002703.3 -1 reviewed p.K481T 0.218 164 0% 120 39.2% 9 77.7% benign(0.002) tolerated(0.29) neutral(0.029) superfamily_PRTase-like PAICS 10606 genome.wustl.edu 37 4 57314967 57314967 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079525.1 +1 reviewed p.R229Q 1.000 38 0% 41 41.5% 136 43.3% possibly_damaging(0.844) deleterious(0.05) deleterious(0.669) HMMPfam_SAICAR_synt,superfamily_SAICAR synthase-like SRP72 6731 genome.wustl.edu 37 4 57355590 57355590 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006947.3 +1 validated p.D421Y 1.000 108 0% 68 14.7% 43 25.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF48452 REST 5978 genome.wustl.edu 37 4 57796165 57796165 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005612.3 +1 reviewed p.E381* 1.000 243 0% 231 27.7% 7 42.8% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 REST 5978 genome.wustl.edu 37 4 57797473 57797473 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005612.3 +1 reviewed p.R817* 0.003 415 0% 426 28.6% 4 25% - - - NULL LPHN3 23284 genome.wustl.edu 37 4 62903477 62903477 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015236.4 +1 reviewed p.R1139Q 1.000 168 0% 144 25.7% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Latrophilin,superfamily_Family A G protein-coupled receptor-like LOC644578 644578 genome.wustl.edu 37 4 64215759 64215759 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_927694.2 +1 model p.F136 0.152 12 0% 16 31.2% 0 - - - - NULL EPHA5 2044 genome.wustl.edu 37 4 66217263 66217263 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004439.5 -1 reviewed p.I784 0.985 193 0% 132 30.3% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) EPHA5 2044 genome.wustl.edu 37 4 66270180 66270180 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004439.5 -1 reviewed p.D568N 1.000 125 0% 116 26.7% 0 - possibly_damaging(0.591) tolerated(0.3) neutral(0.232) NULL EPHA5 2044 genome.wustl.edu 37 4 66280068 66280068 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004439.5 -1 reviewed p.R541* 0.999 192 0% 105 37.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CENPC1 1060 genome.wustl.edu 37 4 68374791 68374791 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001812.2 -1 reviewed p.E549* 0.983 135 0% 123 22.8% 1 0% - - - NULL CENPC1 1060 genome.wustl.edu 37 4 68379879 68379879 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001812.2 -1 reviewed p.E453K 0.068 38 0% 18 33.3% 1 0% benign(0) tolerated(1) - NULL STAP1 26228 genome.wustl.edu 37 4 68449415 68449415 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012108.2 +1 reviewed p.E218D 0.999 64 0% 71 29.6% 0 - benign(0.009) tolerated(0.5) neutral(0.011) HMMSmart_SM00252,superfamily_SH2 domain GNRHR 2798 genome.wustl.edu 37 4 68619942 68619942 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000406.2 -1 reviewed p.R38* 1.000 190 0% 242 24.4% 0 - - - - superfamily_Family A G protein-coupled receptor-like TMPRSS11A 339967 genome.wustl.edu 37 4 68784809 68784809 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182606.3 -1 validated p.V281 0.000 166 0% 133 30.1% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TMPRSS11F 389208 genome.wustl.edu 37 4 68939704 68939704 + Silent SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207407.2 -1 validated p.S102 1.000 73 0% 46 45.7% 0 - - - - HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 TMPRSS11B 132724 genome.wustl.edu 37 4 69095124 69095124 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182502.3 -1 validated p.G266E 0.000 236 0% 166 35.5% 0 - probably_damaging(0.981) tolerated(1) neutral(0.425) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases YTHDC1 91746 genome.wustl.edu 37 4 69202841 69202841 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031732.2 -1 validated p.D263Y 1.000 298 0% 217 35.9% 7 57.1% unknown(0) deleterious(0) - NULL TMPRSS11E 28983 genome.wustl.edu 37 4 69334603 69334603 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014058.3 +1 validated p.N89H 0.997 287 0% 254 36.6% 0 - benign(0.006) tolerated(0.14) neutral(0.249) HMMPfam_SEA,superfamily_SSF82671 TMPRSS11E 28983 genome.wustl.edu 37 4 69334637 69334637 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014058.3 +1 validated p.F100S 0.614 313 0% 269 24.2% 0 - possibly_damaging(0.846) deleterious(0) deleterious(0.770) HMMPfam_SEA,superfamily_SSF82671 TMPRSS11E 28983 genome.wustl.edu 37 4 69343140 69343140 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014058.3 +1 validated p.S254L 0.000 1027 0% 997 13.7% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys UGT2B17 7367 genome.wustl.edu 37 4 69417604 69417604 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077.3 -1 reviewed p.K344T 1.000 354 0.3% 338 30.5% 2 0% benign(0.009) tolerated(0.4) neutral(0.017) HMMPfam_UDPGT,superfamily_SSF53756 UGT2B10 7365 genome.wustl.edu 37 4 69681885 69681885 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001075.4 +1 validated p.H50N 1.000 294 0% 325 27.4% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B10 7365 genome.wustl.edu 37 4 69682273 69682273 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001075.4 +1 validated p.F179C 0.001 302 0% 254 31.5% 0 - benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B7 7364 genome.wustl.edu 37 4 69978239 69978239 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001074.2 +1 validated p.R459* 0.513 190 0.5% 269 23.8% 25 28% - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B4 7363 genome.wustl.edu 37 4 70346495 70346495 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021139.2 -1 validated p.D482Y 0.792 313 0% 288 33.3% 0 - possibly_damaging(0.63) deleterious(0) deleterious(0.664) HMMPfam_UDPGT UGT2B4 7363 genome.wustl.edu 37 4 70352411 70352411 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021139.2 -1 validated p.L336M 0.033 378 0% 327 26.9% 0 - possibly_damaging(0.865) deleterious(0) deleterious(0.780) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A1 10941 genome.wustl.edu 37 4 70512755 70512755 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006798.2 -1 validated p.Q203L 0.994 191 0% 133 27.8% 0 - possibly_damaging(0.499) tolerated(0.05) deleterious(0.512) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase SULT1B1 27284 genome.wustl.edu 37 4 70596288 70596288 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014465.3 -1 reviewed p.P237S 0.374 135 0% 106 33% 0 - benign(0.021) deleterious(0.05) neutral(0.346) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 ODAM 54959 genome.wustl.edu 37 4 71068570 71068570 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017855.3 +1 validated p.S249N 0.659 167 0% 137 34.3% 0 - benign(0.119) tolerated(0.11) neutral(0.281) NULL CABS1 85438 genome.wustl.edu 37 4 71201148 71201148 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033122.3 +1 validated p.S131Y 0.991 231 0% 213 34.7% 0 - possibly_damaging(0.449) deleterious(0) deleterious(0.592) NULL SMR3A 26952 genome.wustl.edu 37 4 71232584 71232584 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012390.3 +1 validated p.S93Y 0.000 479 0% 481 29.3% 0 - unknown(0) deleterious(0.03) - NULL PROL1 58503 genome.wustl.edu 37 4 71265020 71265020 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021225.4 +1 reviewed p.F6L 0.029 110 0% 74 33.8% 0 - benign(0.001) - - NULL MUC7 4589 genome.wustl.edu 37 4 71346888 71346888 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145006.1 +1 reviewed p.E143* 0.000 704 0% 506 29.6% 0 - - - - NULL AMTN 401138 genome.wustl.edu 37 4 71396973 71396973 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_212557.2 +1 validated p.R192M 0.003 108 0% 81 29.6% 3 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL AMBN 258 genome.wustl.edu 37 4 71469002 71469002 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016519.4 +1 reviewed p.S225Y 0.980 104 0% 109 28.4% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_Amelin,HMMSmart_SM00817 AMBN 258 genome.wustl.edu 37 4 71472054 71472054 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016519.4 +1 reviewed p.E317D 0.989 66 0% 72 26.4% 0 - possibly_damaging(0.62) tolerated(0.12) deleterious(0.477) HMMPfam_Amelin,HMMSmart_SM00817 ENAM 10117 genome.wustl.edu 37 4 71509326 71509326 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031889.2 +1 reviewed p.F728C 0.909 474 0% 438 27.9% 0 - possibly_damaging(0.911) deleterious(0.01) deleterious(0.768) NULL ENAM 10117 genome.wustl.edu 37 4 71509662 71509662 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031889.2 +1 reviewed p.S840Y 0.625 306 0% 326 27.9% 0 - probably_damaging(0.986) deleterious(0.05) deleterious(0.780) NULL RUFY3 22902 genome.wustl.edu 37 4 71656992 71656992 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014961.3 +1 validated p.K463T 1.000 142 0% 124 23.4% 1 100% possibly_damaging(0.462) deleterious(0.01) deleterious(0.557) NULL SLC4A4 8671 genome.wustl.edu 37 4 72316136 72316136 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134742.1 +1 reviewed p.D362Y 1.000 41 0% 41 34.1% 0 - possibly_damaging(0.691) deleterious(0) deleterious(0.692) HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr SLC4A4 8671 genome.wustl.edu 37 4 72332207 72332207 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134742.1 +1 reviewed p.F515C 1.000 390 0% 313 31.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCO3_cotransp SLC4A4 8671 genome.wustl.edu 37 4 72423599 72423599 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134742.1 +1 reviewed p.V978 1.000 75 0% 66 36.4% 0 - - - - NULL GC 2638 genome.wustl.edu 37 4 72623809 72623809 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000583.2 -1 reviewed p.I261L 0.040 193 0% 171 31.6% 0 - benign(0) tolerated(0.33) neutral(0.024) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 NPFFR2 10886 genome.wustl.edu 37 4 72994605 72994605 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004885.2 +1 reviewed p.M201I 1.000 223 0% 147 34% 0 - benign(0.312) tolerated(0.35) neutral(0.118) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NPFFR2 10886 genome.wustl.edu 37 4 73012758 73012758 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004885.2 +1 reviewed p.I266M 0.406 495 0.2% 360 34.7% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NPFFR2 10886 genome.wustl.edu 37 4 73012871 73012871 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004885.2 +1 reviewed p.P304L 1.000 240 0% 225 31.6% 0 - benign(0.039) tolerated(0.26) neutral(0.036) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ADAMTS3 9508 genome.wustl.edu 37 4 73161404 73161404 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014243.1 -1 reviewed p.R897Q 1.000 306 0% 229 31% 1 0% possibly_damaging(0.892) deleterious(0.01) deleterious(0.757) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ANKRD17 26057 genome.wustl.edu 37 4 74007970 74007970 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032217.3 -1 reviewed p.D740N 1.000 172 0.6% 143 31.5% 10 70% benign(0.349) deleterious(0) deleterious(0.555) superfamily_Ankyrin repeat ANKRD17 26057 genome.wustl.edu 37 4 74012582 74012582 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032217.3 -1 reviewed p.V590I 1.000 169 0% 119 28.6% 3 33.3% benign(0.215) tolerated(0.2) neutral(0.070) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD17 26057 genome.wustl.edu 37 4 74027009 74027009 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032217.3 -1 reviewed p.R202W 1.000 100 0% 80 36.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ALB 213 genome.wustl.edu 37 4 74275179 74275179 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000477.5 +1 reviewed p.D197G 0.775 240 0% 208 30.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) PatternScan_ALBUMIN,superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ALB 213 genome.wustl.edu 37 4 74286034 74286034 + Missense_Mutation SNP C C A rs61332165 byCluster;byFrequency;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000380904 +1 known p.S617Y 0.927 84 0% 96 25% 0 - - - - NULL AFP 174 genome.wustl.edu 37 4 74318282 74318282 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134.1 +1 reviewed p.F531L 1.000 111 0% 121 38% 4 75% probably_damaging(0.961) deleterious(0) deleterious(0.849) superfamily_Serum_albumin,HMMPfam_Serum_albumin,HMMSmart_ALBUMIN AFM 173 genome.wustl.edu 37 4 74357795 74357795 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001133.2 +1 reviewed p.F350L 0.781 128 0% 139 28.8% 0 - possibly_damaging(0.929) tolerated(0.05) deleterious(0.722) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 RCHY1 25898 genome.wustl.edu 37 4 76415903 76415903 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015436.2 -1 reviewed p.R182K 1.000 179 0% 147 34% 19 36.8% benign(0.018) tolerated(0.27) neutral(0.034) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box G3BP2 9908 genome.wustl.edu 37 4 76572294 76572294 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012297.4 -1 validated p.R326C 1.000 155 0% 107 32.7% 41 31.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNA-binding domain RBD SDAD1 55153 genome.wustl.edu 37 4 76903159 76903159 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018115.2 -1 validated p.N41S 1.000 259 0% 203 33.5% 7 28.5% benign(0.042) tolerated(0.92) neutral(0.003) superfamily_ARM repeat ART3 419 genome.wustl.edu 37 4 77022158 77022158 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130016.1 +1 validated p.K308T 0.492 291 0% 221 27.1% 0 - benign(0.338) tolerated(0.58) neutral(0.112) NULL NUP54 53371 genome.wustl.edu 37 4 77055443 77055443 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017426.2 -1 reviewed p.E199* 1.000 80 0% 67 32.8% 6 0% - - - NULL SCARB2 950 genome.wustl.edu 37 4 77084466 77084466 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005506.2 -1 reviewed p.N437S 1.000 183 0% 138 26.1% 131 38.9% possibly_damaging(0.731) tolerated(0.17) neutral(0.326) HMMPfam_CD36 CCDC158 339965 genome.wustl.edu 37 4 77288816 77288816 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042784.1 -1 validated p.K487N 1.000 87 0% 74 31.1% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL FRAS1 80144 genome.wustl.edu 37 4 79308664 79308664 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025074.6 +1 reviewed p.H1261N 0.865 146 0% 135 29.6% 0 - benign(0.351) tolerated(0.08) neutral(0.411) NULL FRAS1 80144 genome.wustl.edu 37 4 79308783 79308783 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025074.6 +1 reviewed p.D1300 0.592 101 0% 79 35.4% 0 - - - - NULL FRAS1 80144 genome.wustl.edu 37 4 79362356 79362356 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025074.6 +1 reviewed p.F1856C 1.000 48 0% 34 17.6% 1 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL GK2 2712 genome.wustl.edu 37 4 80328763 80328763 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033214.2 -1 validated p.D198Y 1.000 354 0% 304 29.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FGGY_N,superfamily_SSF53067 ANTXR2 118429 genome.wustl.edu 37 4 80899325 80899325 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145794.1 -1 reviewed p.R395C 1.000 98 0% 60 30% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ant_C ANTXR2 118429 genome.wustl.edu 37 4 80976587 80976587 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145794.1 -1 reviewed p.K138T 1.000 44 0% 32 28.1% 4 0% benign(0.01) tolerated(0.1) neutral(0.287) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PRKG2 5593 genome.wustl.edu 37 4 82026990 82026990 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006259.1 -1 provisional p.E680D 0.927 259 0% 186 32.8% 0 - benign(0.066) tolerated(0.59) neutral(0.009) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SCD5 79966 genome.wustl.edu 37 4 83601922 83601922 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037582.2 -1 validated p.E169 1.000 170 0% 138 32.6% 32 25% - - - HMMPfam_FA_desaturase SEC31A 22872 genome.wustl.edu 37 4 83793119 83793119 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077207.1 -1 reviewed p.R254C 1.000 114 0% 108 27.8% 41 29.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 NKX6-1 4825 genome.wustl.edu 37 4 85414576 85414576 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006168.2 -1 validated p.D324N 1.000 94 0% 97 11.3% 1 0% unknown(0) deleterious(0.04) - NULL WDFY3 23001 genome.wustl.edu 37 4 85654715 85654715 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014991.4 -1 reviewed p.I2347 0.843 133 0% 143 35.7% 3 66.6% - - - superfamily_Cyclin-like ARHGAP24 83478 genome.wustl.edu 37 4 86915791 86915791 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001025616.2 +1 validated p.L328 0.496 349 0% 259 30.1% 1 0% - - - superfamily_GTPase activation domain GAP MAPK10 5602 genome.wustl.edu 37 4 87024347 87024347 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000515400 -1 known p.P52S 1.000 146 0.7% 115 20% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PTPN13 5783 genome.wustl.edu 37 4 87622552 87622552 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080685.2 +1 reviewed p.R265C 0.791 144 0% 94 34% 0 - possibly_damaging(0.598) deleterious(0.01) deleterious(0.613) NULL PTPN13 5783 genome.wustl.edu 37 4 87622898 87622898 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080685.2 +1 reviewed p.R380Q 1.000 279 0% 206 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTPN13 5783 genome.wustl.edu 37 4 87653854 87653854 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080685.2 +1 reviewed p.F598S 0.997 175 0% 146 27.4% 1 0% possibly_damaging(0.906) deleterious(0) deleterious(0.804) HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 PTPN13 5783 genome.wustl.edu 37 4 87666165 87666165 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080685.2 +1 reviewed p.G845D 0.977 46 0% 44 45.5% 0 - benign(0.001) tolerated(0.17) neutral(0.059) HMMPfam_FERM_C,superfamily_SSF50729 PTPN13 5783 genome.wustl.edu 37 4 87690981 87690981 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080685.2 +1 reviewed p.R1522* 1.000 171 0% 101 16.8% 2 0% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ AFF1 4299 genome.wustl.edu 37 4 88053513 88053513 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005935.2 +1 validated p.F1081 0.753 126 0% 133 27.1% 3 0% - - - HMMPfam_AF-4 IBSP 3381 genome.wustl.edu 37 4 88731793 88731793 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004967.3 +1 reviewed p.S94 0.233 272 0% 220 29.5% 5 0% - - - HMMPfam_BSP_II MEPE 56955 genome.wustl.edu 37 4 88766992 88766992 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020203.3 +1 validated p.A324 0.000 156 0% 154 29.2% 0 - - - - NULL PKD2 5311 genome.wustl.edu 37 4 88977296 88977296 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000297.2 +1 reviewed p.R592Q 1.000 276 0% 162 29% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PKD_channel,superfamily_SSF81324 PKD2 5311 genome.wustl.edu 37 4 88977307 88977307 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000297.2 +1 reviewed p.D596Y 1.000 263 0% 151 35.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PKD_channel,superfamily_SSF81324 PKD2 5311 genome.wustl.edu 37 4 88983132 88983132 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000297.2 +1 reviewed p.M698I 1.000 163 0% 96 35.4% 5 40% possibly_damaging(0.95) tolerated(0.2) neutral(0.443) superfamily_SSF47473 PKD2 5311 genome.wustl.edu 37 4 88986625 88986625 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000297.2 +1 reviewed p.E740K 1.000 243 0% 190 31.1% 10 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_SSF47473 PPM1K 152926 genome.wustl.edu 37 4 89199722 89199722 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152542.3 -1 validated p.A5V 1.000 59 0% 54 37% 0 - benign(0.022) tolerated(0.3) neutral(0.030) NULL HERC6 55008 genome.wustl.edu 37 4 89317276 89317276 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017912.3 +1 validated p.S290L 0.999 39 0% 46 23.9% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_RCC1,superfamily_RCC1/BLIP-II HERC6 55008 genome.wustl.edu 37 4 89358081 89358081 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017912.3 +1 validated p.D814 0.039 96 0% 85 24.7% 8 37.5% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC5 51191 genome.wustl.edu 37 4 89383346 89383346 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016323.2 +1 reviewed p.F176C 0.000 51 0% 43 41.9% 0 - benign(0.005) tolerated(0.24) neutral(0.037) superfamily_RCC1/BLIP-II FAM13A 10144 genome.wustl.edu 37 4 89652515 89652515 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014883.2 -1 validated p.R970W 1.000 41 0% 30 30% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM13A 10144 genome.wustl.edu 37 4 89679915 89679915 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014883.2 -1 validated p.K572N 0.994 107 0% 112 31.2% 0 - benign(0) tolerated(0.55) neutral(0.007) NULL FAM13A 10144 genome.wustl.edu 37 4 89859273 89859273 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014883.2 -1 validated p.R242K 0.001 134 0% 120 26.7% 0 - unknown(0) deleterious(0) - NULL TIGD2 166815 genome.wustl.edu 37 4 90034395 90034395 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145715.2 +1 reviewed p.Q90H 1.000 158 0% 110 32.7% 2 100% probably_damaging(0.992) tolerated(0.05) deleterious(0.793) HMMSmart_CENPB,superfamily_Homeodomain_like,HMMPfam_CenpB-DNA-bind MMRN1 22915 genome.wustl.edu 37 4 90856316 90856316 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007351.2 +1 reviewed p.E495D 0.135 134 0% 117 29.9% 0 - probably_damaging(0.996) tolerated(0.21) deleterious(0.506) NULL MMRN1 22915 genome.wustl.edu 37 4 90856949 90856949 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007351.2 +1 reviewed p.V706 0.031 74 1.4% 83 21.7% 0 - - - - NULL MMRN1 22915 genome.wustl.edu 37 4 90857582 90857582 + Missense_Mutation SNP C C A rs185952075 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007351.2 +1 reviewed p.F917L 0.974 77 0% 79 30.4% 0 - benign(0.001) tolerated(0.64) neutral(0.003) NULL MMRN1 22915 genome.wustl.edu 37 4 90872801 90872801 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007351.2 +1 reviewed p.T1055M 0.995 117 0% 112 37.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin FAM190A 401145 genome.wustl.edu 37 4 91230248 91230248 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145065.1 +1 validated p.M271I 0.009 415 0% 376 27.4% 0 - benign(0) tolerated(0.44) neutral(0.013) NULL GRID2 2895 genome.wustl.edu 37 4 94032024 94032024 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001510.2 +1 validated p.E219* 1.000 133 0% 140 38.6% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 SMARCAD1 56916 genome.wustl.edu 37 4 95201893 95201893 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128429.1 +1 validated p.R859* 0.651 192 0% 157 25.5% 9 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases UNC5C 8633 genome.wustl.edu 37 4 96163618 96163618 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003728.2 -1 reviewed p.L357W 1.000 65 0% 54 25.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat UNC5C 8633 genome.wustl.edu 37 4 96163728 96163728 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003728.2 -1 reviewed p.T320 0.165 39 0% 27 25.9% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat PDHA2 5161 genome.wustl.edu 37 4 96762404 96762404 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005390.4 +1 validated p.S368I 0.006 216 0% 212 28.8% 0 - benign(0.059) tolerated(0.36) neutral(0.024) superfamily_SSF52518 C4orf37 285555 genome.wustl.edu 37 4 99027127 99027127 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174952.2 -1 validated p.I197L 0.837 64 0% 41 34.1% 0 - possibly_damaging(0.619) tolerated(0.28) neutral(0.247) NULL C4orf37 285555 genome.wustl.edu 37 4 99030407 99030407 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174952.2 -1 validated p.S146Y 0.196 221 0% 206 15% 0 - benign(0.002) deleterious(0.04) neutral(0.349) NULL RAP1GDS1 5910 genome.wustl.edu 37 4 99325714 99325714 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100426.1 +1 validated p.E243* 1.000 263 0% 188 29.8% 15 0% - - - superfamily_ARM repeat LOC100287782 100287782 genome.wustl.edu 37 4 99877910 99877910 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342458.1 +1 model p.L127 0.792 62 0% 37 24.3% 0 - - - - NULL METAP1 23173 genome.wustl.edu 37 4 99960603 99960603 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015143.2 +1 validated p.R140Q 1.000 155 0% 107 27.1% 24 45.8% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase METAP1 23173 genome.wustl.edu 37 4 99969962 99969962 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015143.2 +1 validated p.R289Q 1.000 287 0% 244 34.8% 17 35.2% possibly_damaging(0.684) deleterious(0.02) deleterious(0.627) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase ADH1B 125 genome.wustl.edu 37 4 100231963 100231963 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000668.4 -1 reviewed p.E354D 0.910 158 0% 132 11.4% 0 - benign(0) tolerated(0.97) - superfamily_GroES-like MTTP 4547 genome.wustl.edu 37 4 100532354 100532354 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000253.2 +1 reviewed p.F608L 0.997 142 0% 163 28.8% 0 - probably_damaging(0.999) tolerated(0.44) deleterious(0.503) superfamily_LV_superhelical DDIT4L 115265 genome.wustl.edu 37 4 101109007 101109007 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145244.2 -1 provisional p.T137A 0.997 85 0% 87 29.9% 15 46.6% probably_damaging(0.971) tolerated(0.36) neutral(0.433) HMMPfam_RTP801_C BANK1 55024 genome.wustl.edu 37 4 102946540 102946540 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017935.4 +1 reviewed p.F490L 0.132 127 0% 157 41.4% 3 0% possibly_damaging(0.791) tolerated(0.21) neutral(0.340) superfamily_Ankyrin repeat SLC39A8 64116 genome.wustl.edu 37 4 103189057 103189057 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135146.1 -1 reviewed p.I340 1.000 70 0% 97 33% 10 0% - - - HMMPfam_Zip UBE2D3 7323 genome.wustl.edu 37 4 103718615 103718615 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181893.1 -1 reviewed p.Y136C 1.000 407 0% 259 27.4% 216 31.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UQ_con,HMMSmart_UBCc,superfamily_UBQ-conjugat/RWD-like SLC9B1 150159 genome.wustl.edu 37 4 103822451 103822451 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139173.2 -1 reviewed p.V457 0.000 387 0% 346 15% 0 - - - - HMMPfam_Na_H_Exchanger CENPE 1062 genome.wustl.edu 37 4 104029996 104029996 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001813.2 -1 validated p.R2659C 0.386 206 0% 178 29.8% 11 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CENPE 1062 genome.wustl.edu 37 4 104061028 104061028 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001813.2 -1 validated p.R2041I 0.565 285 0% 187 33.2% 0 - possibly_damaging(0.8) deleterious(0.03) deleterious(0.665) NULL CENPE 1062 genome.wustl.edu 37 4 104068792 104068792 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001813.2 -1 validated p.L1285 0.228 185 0% 214 25.2% 2 0% - - - NULL TACR3 6870 genome.wustl.edu 37 4 104640686 104640686 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001059.1 -1 reviewed p.G49 0.074 68 0% 69 31.9% 0 - - - - NULL PPA2 27068 genome.wustl.edu 37 4 106367639 106367639 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000515567 -1 known p.E15* 1.000 289 0% 203 29.6% 52 50% benign(0.004) deleterious(0.02) neutral(0.383) HMMPfam_Pyrophosphatase,superfamily_Inorganic pyrophosphatase TBCK 93627 genome.wustl.edu 37 4 107016791 107016791 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033115.3 -1 validated p.R744C 0.999 301 0% 232 25.9% 10 40% possibly_damaging(0.866) tolerated(0.06) deleterious(0.658) HMMPfam_Rhodanese,HMMSmart_RHOD,superfamily_Rhodanese-like AIMP1 9255 genome.wustl.edu 37 4 107248644 107248644 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142416.1 +1 reviewed p.R73Q 1.000 131 0% 83 33.7% 54 51.8% benign(0.046) tolerated(0.36) neutral(0.022) NULL DKK2 27123 genome.wustl.edu 37 4 107956665 107956665 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014421.2 -1 reviewed p.I28 0.983 105 0% 77 31.2% 1 0% - - - NULL PAPSS1 9061 genome.wustl.edu 37 4 108574727 108574727 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005443.4 -1 validated p.R386Q 1.000 172 0% 160 27.5% 44 34% benign(0.195) deleterious(0.03) neutral(0.383) HMMPfam_ATP-sulfurylase,superfamily_PUA domain-like LEF1 51176 genome.wustl.edu 37 4 108999451 108999451 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016269.4 -1 reviewed p.K311N 1.000 408 0% 410 42.9% 19 31.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box AGXT2L1 64850 genome.wustl.edu 37 4 109680996 109680996 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031279.3 -1 validated p.R82* 0.990 72 0% 64 29.7% 6 0% - - - HMMPfam_Aminotran_3,superfamily_PLP-dependent transferases CASP6 839 genome.wustl.edu 37 4 110612145 110612145 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001226.3 -1 reviewed p.H168 0.119 105 0% 91 29.7% 92 43.4% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like LRIT3 345193 genome.wustl.edu 37 4 110791094 110791094 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198506.2 +1 validated p.F352V 0.021 478 0% 390 29.2% 0 - benign(0) tolerated(0.57) neutral(0.006) NULL EGF 1950 genome.wustl.edu 37 4 110834531 110834531 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001963.4 +1 reviewed p.K14Q 0.000 99 0% 73 34.2% 1 100% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL ENPEP 2028 genome.wustl.edu 37 4 111427802 111427802 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001977.3 +1 validated p.Y310D 1.000 147 0% 131 28.2% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" AP1AR 55435 genome.wustl.edu 37 4 113186955 113186955 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018569.4 +1 validated p.R169Q 1.000 64 0% 48 37.5% 10 40% possibly_damaging(0.928) deleterious(0) deleterious(0.820) NULL LARP7 51574 genome.wustl.edu 37 4 113565907 113565907 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015454.1 +1 validated p.R28W 0.998 247 0% 239 29.7% 7 71.4% probably_damaging(0.991) deleterious(0) deleterious(0.889) "superfamily_""Winged helix"" DNA-binding domain" LARP7 51574 genome.wustl.edu 37 4 113570694 113570694 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000511529 +1 known p.A176V 0.003 61 0% 49 34.7% 20 20% - - - NULL ANK2 287 genome.wustl.edu 37 4 114095619 114095619 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001148.4 +1 reviewed p.L44 1.000 69 0% 59 22% 0 - - - - HMMSmart_ANK,superfamily_ANK ANK2 287 genome.wustl.edu 37 4 114186129 114186129 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001148.4 +1 reviewed p.A488V 1.000 4 0.000 6 0.833 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANK2 287 genome.wustl.edu 37 4 114274668 114274668 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001148.4 +1 reviewed p.D1632Y 0.997 303 0% 334 29.3% 0 - probably_damaging(0.996) - - NULL ANK2 287 genome.wustl.edu 37 4 114276026 114276026 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001148.4 +1 reviewed p.K2084N 1.000 286 0% 263 31.6% 0 - benign(0.167) - - NULL ANK2 287 genome.wustl.edu 37 4 114277820 114277820 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001148.4 +1 reviewed p.L2682 0.000 304 0% 247 32% 0 - - - - NULL ANK2 287 genome.wustl.edu 37 4 114278727 114278727 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001148.4 +1 reviewed p.E2985* 0.000 527 0% 448 13.4% 0 - - - - NULL ARSJ 79642 genome.wustl.edu 37 4 114823685 114823685 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024590.3 -1 validated p.I515 0.001 69 0% 77 32.5% 8 50% - - - superfamily_Alkaline phosphatase-like ARSJ 79642 genome.wustl.edu 37 4 114823779 114823779 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024590.3 -1 validated p.R484Q 0.752 114 0% 113 31.9% 6 33.3% probably_damaging(0.989) tolerated(0.2) deleterious(0.488) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like ARSJ 79642 genome.wustl.edu 37 4 114824392 114824392 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024590.3 -1 validated p.E280K 0.823 166 0% 147 24.5% 7 14.2% benign(0.003) tolerated(0.62) neutral(0.004) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like ARSJ 79642 genome.wustl.edu 37 4 114899657 114899657 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024590.3 -1 validated p.K112E 1.000 239 0% 232 28% 4 25% possibly_damaging(0.848) tolerated(0.07) deleterious(0.645) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like UGT8 7368 genome.wustl.edu 37 4 115544340 115544340 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128174.1 +1 validated p.E102K 1.000 164 0% 141 31.9% 0 - possibly_damaging(0.791) tolerated(0.26) neutral(0.331) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT8 7368 genome.wustl.edu 37 4 115589341 115589341 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128174.1 +1 validated p.G381 0.997 216 0% 149 22.8% 0 - - - - HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase NDST4 64579 genome.wustl.edu 37 4 115769486 115769486 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022569.1 -1 provisional p.A609T 1.000 121 0% 100 23% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 NDST4 64579 genome.wustl.edu 37 4 115858545 115858545 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022569.1 -1 provisional p.T446A 1.000 134 0% 91 29.7% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SEC24D 9871 genome.wustl.edu 37 4 119659450 119659450 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014822.2 -1 reviewed p.R821Q 0.997 161 0% 107 26.2% 25 24% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sec23_helical,superfamily_Helical domain of Sec23/24 USP53 54532 genome.wustl.edu 37 4 120192867 120192867 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019050.2 +1 validated p.K618E 0.051 162 0% 147 27.9% 0 - possibly_damaging(0.521) deleterious(0.03) deleterious(0.540) NULL USP53 54532 genome.wustl.edu 37 4 120193173 120193173 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019050.2 +1 validated p.E720* 0.986 224 0% 210 36.7% 1 0% - - - NULL PDE5A 8654 genome.wustl.edu 37 4 120528301 120528301 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083.3 -1 reviewed p.S102P 1.000 202 0% 155 34.2% 0 - possibly_damaging(0.861) deleterious(0.01) deleterious(0.739) NULL PRDM5 11107 genome.wustl.edu 37 4 121702379 121702379 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018699.2 -1 reviewed p.V454 0.905 87 0% 84 32.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TNIP3 79931 genome.wustl.edu 37 4 122075732 122075732 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128843.1 -1 validated p.E156K 0.973 137 0% 97 25.8% 2 0% possibly_damaging(0.858) tolerated(0.2) neutral(0.380) NULL EXOSC9 5393 genome.wustl.edu 37 4 122735078 122735078 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001034194.1 +1 validated p.E344D 1.000 214 0% 193 31.6% 32 31.2% benign(0.389) tolerated(0.45) neutral(0.137) NULL TRPC3 7222 genome.wustl.edu 37 4 122820844 122820844 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130698.1 -1 validated p.L824I 1.000 144 0% 120 24.2% 0 - benign(0) tolerated(0.42) neutral(0.014) NULL TRPC3 7222 genome.wustl.edu 37 4 122846208 122846208 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130698.1 -1 validated p.R381C 1.000 272 0% 245 31% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TRPC3 7222 genome.wustl.edu 37 4 122853627 122853627 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130698.1 -1 validated p.P262 0.978 56 0% 57 50.9% 0 - - - - HMMPfam_Ank KIAA1109 84162 genome.wustl.edu 37 4 123165058 123165058 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015312.3 +1 reviewed p.E1598* 1.000 120 0% 125 33.6% 0 - - - - NULL KIAA1109 84162 genome.wustl.edu 37 4 123175362 123175362 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015312.3 +1 reviewed p.E1979K 1.000 164 0% 149 32.2% 1 0% possibly_damaging(0.945) tolerated(0.8) neutral(0.390) NULL KIAA1109 84162 genome.wustl.edu 37 4 123239306 123239306 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015312.3 +1 reviewed p.L3559V 1.000 241 0.4% 195 27.2% 2 50% possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL KIAA1109 84162 genome.wustl.edu 37 4 123265699 123265699 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015312.3 +1 reviewed p.T4239M 1.000 187 0% 143 29.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1109 84162 genome.wustl.edu 37 4 123276965 123276965 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015312.3 +1 reviewed p.R4774C 0.999 91 0% 56 32.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FSA_C ADAD1 132612 genome.wustl.edu 37 4 123301256 123301256 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139243.3 +1 validated p.S11L 0.998 100 0% 75 24% 0 - benign(0.167) deleterious(0) neutral(0.460) NULL ADAD1 132612 genome.wustl.edu 37 4 123332493 123332493 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139243.3 +1 validated p.I322T 1.000 205 0% 156 25.6% 0 - possibly_damaging(0.487) deleterious(0.02) deleterious(0.545) HMMPfam_A_deamin,HMMSmart_SM00552 IL2 3558 genome.wustl.edu 37 4 123372934 123372934 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000586.3 -1 reviewed p.C145 1.000 94 0% 55 30.9% 0 - - - - HMMPfam_IL2,HMMSmart_SM00189,superfamily_4-helical cytokines BBS12 166379 genome.wustl.edu 37 4 123663646 123663646 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152618.2 +1 reviewed p.F200C 0.000 182 0% 136 32.4% 6 33.3% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like BBS12 166379 genome.wustl.edu 37 4 123664849 123664849 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152618.2 +1 reviewed p.T601N 0.245 105 0% 97 29.9% 4 0% possibly_damaging(0.481) deleterious(0.02) deleterious(0.542) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like NUDT6 11162 genome.wustl.edu 37 4 123838790 123838790 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007083.3 -1 validated p.R103Q 0.856 105 0% 96 31.2% 11 27.2% benign(0.222) tolerated(0.35) neutral(0.042) NULL NUDT6 11162 genome.wustl.edu 37 4 123838799 123838799 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007083.3 -1 validated p.L100P 0.996 111 0% 100 27% 12 66.6% possibly_damaging(0.477) tolerated(0.27) neutral(0.191) NULL SPATA5 166378 genome.wustl.edu 37 4 123949434 123949434 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145207.2 +1 validated p.R655* 0.990 335 0% 369 28.2% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD50 57182 genome.wustl.edu 37 4 125592223 125592223 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020337.2 -1 validated p.R737* 0.979 150 0% 168 31% 5 20% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FAT4 79633 genome.wustl.edu 37 4 126241383 126241383 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024582.4 +1 validated p.L1273 0.274 185 0% 137 29.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126242019 126242019 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024582.4 +1 validated p.D1485N 1.000 214 0% 142 28.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126373668 126373668 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024582.4 +1 validated p.L3833I 0.757 83 0% 75 36% 2 50% benign(0) tolerated(0.09) neutral(0.296) HMMSmart_SM00181,superfamily_EGF/Laminin HSPA4L 22824 genome.wustl.edu 37 4 128703724 128703724 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014278.2 +1 provisional p.D7Y 1.000 39 0% 36 30.6% 15 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,superfamily_SSF53067 HSPA4L 22824 genome.wustl.edu 37 4 128726313 128726313 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014278.2 +1 provisional p.F357L 1.000 69 0% 58 19% 16 50% possibly_damaging(0.929) tolerated(0.25) neutral(0.413) HMMPfam_HSP70,superfamily_SSF53067 HSPA4L 22824 genome.wustl.edu 37 4 128732660 128732660 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014278.2 +1 provisional p.R483C 1.000 111 0% 98 31.6% 17 64.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,superfamily_SSF100920 PHF17 79960 genome.wustl.edu 37 4 129773322 129773322 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199320.2 +1 validated p.E199K 1.000 139 0% 129 27.9% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FYVE/PHD zinc finger SCLT1 132320 genome.wustl.edu 37 4 130014225 130014225 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144643.2 -1 validated p.N12H 1.000 121 0% 65 26.2% 7 28.5% benign(0.005) tolerated(0.2) neutral(0.049) NULL PCDH10 57575 genome.wustl.edu 37 4 134073168 134073168 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032961.1 +1 reviewed p.E625K 1.000 25 0% 31 32.3% 0 - possibly_damaging(0.614) deleterious(0.01) deleterious(0.619) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH10 57575 genome.wustl.edu 37 4 134111306 134111306 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032961.1 +1 reviewed p.R1038 1.000 70 0% 59 28.8% 0 - - - - NULL PCDH18 54510 genome.wustl.edu 37 4 138442664 138442664 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019035.3 -1 reviewed p.S976Y 0.004 137 0% 114 24.6% 7 0% benign(0.066) deleterious(0.01) neutral(0.410) NULL PCDH18 54510 genome.wustl.edu 37 4 138451388 138451388 + Missense_Mutation SNP C C T rs181780749 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019035.3 -1 reviewed p.A619T 0.980 409 0% 353 14.7% 6 0% benign(0.005) tolerated(0.07) neutral(0.319) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH18 54510 genome.wustl.edu 37 4 138452718 138452718 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019035.3 -1 reviewed p.S175 0.005 131 0% 132 31.8% 2 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like NAA15 80155 genome.wustl.edu 37 4 140306112 140306112 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_057175.3 +1 validated p.S761* 1.000 141 0% 123 30.9% 15 13.3% - - - NULL MAML3 55534 genome.wustl.edu 37 4 140811599 140811599 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018717.4 -1 validated p.E331K 1.000 366 0% 319 31% 4 0% probably_damaging(0.998) tolerated(0.14) deleterious(0.724) NULL CLGN 1047 genome.wustl.edu 37 4 141313762 141313762 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130675.1 -1 reviewed p.F490C 1.000 126 0% 113 15% 7 14.2% possibly_damaging(0.694) tolerated(0.05) deleterious(0.595) NULL CLGN 1047 genome.wustl.edu 37 4 141315053 141315053 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130675.1 -1 reviewed p.S431L 1.000 104 0% 87 24.1% 14 42.8% probably_damaging(0.979) deleterious(0) deleterious(0.867) superfamily_Concanavalin A-like lectins/glucanases UCP1 7350 genome.wustl.edu 37 4 141484541 141484541 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021833.4 -1 reviewed p.R153C 0.998 200 0% 162 32.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitoch_carrier,HMMPfam_Mito_carr TBC1D9 23158 genome.wustl.edu 37 4 141560497 141560497 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015130.2 -1 validated p.T808M 0.999 31 0% 25 44% 5 0% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) superfamily_EF-hand TBC1D9 23158 genome.wustl.edu 37 4 141590794 141590794 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015130.2 -1 validated p.P477 0.174 51 0% 38 34.2% 2 0% - - - NULL TBC1D9 23158 genome.wustl.edu 37 4 141600118 141600118 + Nonsense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015130.2 -1 validated p.K277* 1.000 347 0% 317 33.8% 4 0% - - - NULL TBC1D9 23158 genome.wustl.edu 37 4 141600291 141600291 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015130.2 -1 validated p.D219G 0.998 290 0% 248 29.8% 2 0% possibly_damaging(0.856) deleterious(0.01) deleterious(0.736) NULL TBC1D9 23158 genome.wustl.edu 37 4 141622708 141622708 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015130.2 -1 validated p.R64Q 1.000 92 0% 106 32.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF330 27309 genome.wustl.edu 37 4 142145764 142145764 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014487.4 +1 validated p.R48 0.522 263 0% 302 26.8% 20 70% - - - HMMPfam_NOA36 INPP4B 8821 genome.wustl.edu 37 4 143007359 143007359 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001101669.1 -1 reviewed p.L809I 1.000 103 0% 79 32.9% 9 55.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL INPP4B 8821 genome.wustl.edu 37 4 143326370 143326370 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001101669.1 -1 reviewed p.E82K 0.999 50 0% 64 42.2% 4 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) GAB1 2549 genome.wustl.edu 37 4 144378863 144378863 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207123.2 +1 reviewed p.P539H 1.000 75 0% 49 42.9% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL GYPE 2996 genome.wustl.edu 37 4 144826643 144826643 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002102.3 -1 reviewed p.I6 0.000 130 0% 73 17.8% 0 - - - - NULL HHIP 64399 genome.wustl.edu 37 4 145640093 145640093 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022475.1 +1 reviewed p.I582S 0.998 197 0% 171 33.3% 2 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_Soluble quinoprotein glucose dehydrogenase OTUD4 54726 genome.wustl.edu 37 4 146073706 146073706 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102653.1 -1 reviewed p.E254* 1.000 119 0% 74 24.3% 2 0% - - - NULL OTUD4 54726 genome.wustl.edu 37 4 146092862 146092862 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102653.1 -1 reviewed p.G20E 0.998 162 0% 108 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OTU,superfamily_SSF54001 ZNF827 152485 genome.wustl.edu 37 4 146823704 146823704 + Missense_Mutation SNP C C T rs183753225 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178835.3 -1 validated p.R236Q 1.000 140 0% 119 33.6% 0 - possibly_damaging(0.79) deleterious(0.01) deleterious(0.702) NULL POU4F2 5458 genome.wustl.edu 37 4 147561700 147561700 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004575.2 +1 validated p.E324K 1.000 190 0% 149 29.5% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains TTC29 83894 genome.wustl.edu 37 4 147724748 147724748 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031956.2 -1 validated p.K397N 0.830 37 0% 33 24.2% 1 100% possibly_damaging(0.937) tolerated(0.06) deleterious(0.706) NULL EDNRA 1909 genome.wustl.edu 37 4 148441127 148441127 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001957.3 +1 reviewed p.D182G 1.000 163 0% 171 31.6% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like PRMT10 90826 genome.wustl.edu 37 4 148594133 148594133 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138364.2 -1 provisional p.E240D 0.972 194 0% 181 33.7% 4 25% benign(0.004) tolerated(0.55) neutral(0.007) superfamily_S-adenosyl-L-methionine-dependent methyltransferases ARHGAP10 79658 genome.wustl.edu 37 4 148796182 148796182 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024605.3 +1 validated p.R238Q 1.000 342 0% 307 35.8% 3 33.3% probably_damaging(0.997) tolerated(0.1) deleterious(0.752) NULL NR3C2 4306 genome.wustl.edu 37 4 149075942 149075942 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000901.4 -1 reviewed p.T709A 0.131 55 0% 67 29.9% 0 - possibly_damaging(0.94) tolerated(0.5) neutral(0.395) NULL NR3C2 4306 genome.wustl.edu 37 4 149115952 149115952 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000901.4 -1 reviewed p.K653N 1.000 331 0.3% 260 28.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C4,HMMSmart_ZnF_C4,superfamily_SSF57716 NR3C2 4306 genome.wustl.edu 37 4 149115956 149115956 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000901.4 -1 reviewed p.R652Q 1.000 325 0% 253 35.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C4,HMMSmart_ZnF_C4,superfamily_SSF57716 NR3C2 4306 genome.wustl.edu 37 4 149356668 149356668 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000901.4 -1 reviewed p.P449S 1.000 120 0% 153 26.1% 0 - benign(0.248) tolerated(0.11) neutral(0.297) NULL DCLK2 166614 genome.wustl.edu 37 4 151124990 151124990 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040260.2 +1 validated p.T335 0.988 212 0% 186 33.3% 1 100% - - - NULL DCLK2 166614 genome.wustl.edu 37 4 151153862 151153862 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040260.2 +1 validated p.S483L 1.000 327 0% 342 33.3% 0 - probably_damaging(0.957) tolerated(0.05) deleterious(0.746) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DCLK2 166614 genome.wustl.edu 37 4 151153895 151153895 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040260.2 +1 validated p.A494V 1.000 345 0% 358 30.4% 2 0% benign(0.001) tolerated(0.52) neutral(0.009) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DCLK2 166614 genome.wustl.edu 37 4 151153957 151153957 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040260.2 +1 validated p.D515N 1.000 324 0% 365 30.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LRBA 987 genome.wustl.edu 37 4 151223907 151223907 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000509835 -1 known p.S1282L 0.058 152 0% 158 25.9% 34 44.1% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 LRBA 987 genome.wustl.edu 37 4 151509256 151509256 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006726.2 -1 validated p.E2103K 1.000 401 0% 365 39.5% 22 18.1% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_PH domain-like LRBA 987 genome.wustl.edu 37 4 151518245 151518245 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006726.2 -1 validated p.E2023D 0.000 147 0% 87 23% 0 - benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_DUF1088 LRBA 987 genome.wustl.edu 37 4 151682992 151682992 + Nonsense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000509835 -1 known p.K516* 1.000 210 0% 256 32% 7 85.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LRBA 987 genome.wustl.edu 37 4 151773336 151773336 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006726.2 -1 validated p.D1176Y 0.996 319 0% 334 29.6% 2 0% possibly_damaging(0.862) deleterious(0) deleterious(0.778) superfamily_ARM repeat LRBA 987 genome.wustl.edu 37 4 151818961 151818961 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006726.2 -1 validated p.R645Q 1.000 76 0% 58 27.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat SH3D19 152503 genome.wustl.edu 37 4 152054264 152054264 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009555.3 -1 validated p.R614* 0.966 177 0% 173 22% 4 0% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain FBXW7 55294 genome.wustl.edu 37 4 153251901 153251901 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033632.2 -1 reviewed p.E369* 1.000 320 0% 347 29.7% 2 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,superfamily_F-box domain FBXW7 55294 genome.wustl.edu 37 4 153268137 153268137 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033632.2 -1 reviewed p.R224Q 1.000 185 0% 150 30% 1 0% benign(0.377) tolerated(0.36) neutral(0.140) superfamily_WD40 repeat-like TMEM154 201799 genome.wustl.edu 37 4 153564291 153564291 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152680.1 -1 provisional p.E143K 1.000 162 0% 170 27.6% 2 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TIGD4 201798 genome.wustl.edu 37 4 153691144 153691144 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145720.2 -1 reviewed p.F338C 1.000 204 0% 207 39.1% 0 - probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_DDE KIAA0922 23240 genome.wustl.edu 37 4 154555414 154555414 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015196.3 +1 validated p.Y1466H 1.000 147 0% 120 35.8% 10 90% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL TLR2 7097 genome.wustl.edu 37 4 154624564 154624564 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003264.3 +1 reviewed p.D169Y 0.990 205 0% 198 28.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52058 TLR2 7097 genome.wustl.edu 37 4 154625500 154625500 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003264.3 +1 reviewed p.E481* 1.000 231 0% 201 26.9% 4 0% - - - HMMSmart_LRR_TYP,superfamily_SSF52058 TLR2 7097 genome.wustl.edu 37 4 154626024 154626024 + Silent SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003264.3 +1 reviewed p.V655 1.000 144 0.7% 128 33.6% 7 0% - - - HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR DCHS2 54798 genome.wustl.edu 37 4 155155848 155155848 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017639.3 -1 validated p.S2864Y 0.017 151 0% 185 27.6% 0 - possibly_damaging(0.664) tolerated(0.65) neutral(0.238) NULL DCHS2 54798 genome.wustl.edu 37 4 155160343 155160343 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017639.3 -1 validated p.F2036V 0.877 164 0% 138 30.4% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155160361 155160361 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017639.3 -1 validated p.L2030I 0.018 162 0% 146 29.5% 0 - benign(0.001) tolerated(0.26) neutral(0.034) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155225830 155225830 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017639.3 -1 validated p.H1411N 0.161 231 0% 172 23.3% 0 - benign(0.291) tolerated(0.18) neutral(0.145) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155242138 155242138 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017639.3 -1 validated p.T1016 0.000 371 0.5% 344 28.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155253787 155253787 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017639.3 -1 validated p.F692L 0.994 158 0% 106 33% 0 - probably_damaging(0.996) tolerated(0.34) deleterious(0.485) superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155254132 155254132 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017639.3 -1 validated p.R577 0.001 77 0% 62 33.9% 0 - - - - HMMSmart_SM00112 DCHS2 54798 genome.wustl.edu 37 4 155254405 155254405 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017639.3 -1 validated p.E486D 0.003 63 0% 56 35.7% 0 - possibly_damaging(0.812) tolerated(0.55) neutral(0.312) HMMPfam_Cadherin,superfamily_Cadherin-like PLRG1 5356 genome.wustl.edu 37 4 155459153 155459153 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002669.2 -1 provisional p.T420M 1.000 210 0% 140 28.6% 91 45% possibly_damaging(0.7) deleterious(0) deleterious(0.696) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FGA 2243 genome.wustl.edu 37 4 155505789 155505789 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000508.3 -1 reviewed p.F696 1.000 245 0% 216 38% 0 - - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGA 2243 genome.wustl.edu 37 4 155509955 155509955 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000508.3 -1 reviewed p.S118 0.000 225 0% 204 28.4% 0 - - - - HMMPfam_Fib_alpha NPY2R 4887 genome.wustl.edu 37 4 156135571 156135571 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000910.2 +1 provisional p.I160 1.000 127 0% 134 29.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GUCY1A3 2982 genome.wustl.edu 37 4 156625096 156625096 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000856.4 +1 validated p.N90H 0.998 203 0% 151 31.8% 5 0% benign(0.003) tolerated(0.38) neutral(0.018) NULL ASIC5 51802 genome.wustl.edu 37 4 156764950 156764950 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017419.2 -1 reviewed p.F248 1.000 116 0% 107 27.1% 0 - - - - HMMPfam_ASC GLRB 2743 genome.wustl.edu 37 4 158091671 158091671 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000824.4 +1 reviewed p.D429Y 1.000 216 0% 147 32.7% 20 55% possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GRIA2 2891 genome.wustl.edu 37 4 158233874 158233874 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000826.3 +1 reviewed p.K171N 1.000 111 0% 97 26.8% 1 0% benign(0.003) tolerated(0.66) neutral(0.003) HMMPfam_ANF_receptor,superfamily_SSF53822 GRIA2 2891 genome.wustl.edu 37 4 158284049 158284049 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000826.3 +1 reviewed p.F835L 1.000 175 0% 150 24% 1 0% possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL RXFP1 59350 genome.wustl.edu 37 4 159520504 159520504 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021634.2 +1 provisional p.L105I 0.017 91 0% 82 19.5% 2 100% benign(0) tolerated(0.45) neutral(0.012) superfamily_L domain-like RXFP1 59350 genome.wustl.edu 37 4 159520571 159520571 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021634.2 +1 provisional p.N127S 1.000 79 0% 61 21.3% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMSmart_SM00369,superfamily_L domain-like RXFP1 59350 genome.wustl.edu 37 4 159566149 159566149 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021634.2 +1 provisional p.L402I 1.000 98 0% 80 28.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like RXFP1 59350 genome.wustl.edu 37 4 159566282 159566282 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021634.2 +1 provisional p.S446F 1.000 112 0% 79 27.8% 0 - probably_damaging(0.953) tolerated(0.07) deleterious(0.716) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RXFP1 59350 genome.wustl.edu 37 4 159567980 159567980 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021634.2 +1 provisional p.I461 0.922 242 0.4% 189 25.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RAPGEF2 9693 genome.wustl.edu 37 4 160251140 160251140 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014247.2 +1 validated p.R266I 1.000 208 0% 203 31.5% 6 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Ras_GEF NPY5R 4889 genome.wustl.edu 37 4 164272178 164272178 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006174.2 +1 provisional p.E251D 0.999 225 0% 160 31.9% 0 - possibly_damaging(0.858) deleterious(0) deleterious(0.776) HMMPfam_7tm_1,superfamily_SSF81321 TKTL2 84076 genome.wustl.edu 37 4 164393512 164393512 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032136.4 -1 validated p.E459* 1.000 131 0% 104 29.8% 0 - - - - HMMPfam_Transket_pyr,superfamily_SSF52518 TKTL2 84076 genome.wustl.edu 37 4 164393963 164393963 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032136.4 -1 validated p.T308 0.718 232 0% 189 27.5% 0 - - - - superfamily_SSF52518 TKTL2 84076 genome.wustl.edu 37 4 164394651 164394651 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032136.4 -1 validated p.A79V 1.000 49 0% 35 20% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Transketolase_N,superfamily_SSF52518 MARCH1 55016 genome.wustl.edu 37 4 164506976 164506976 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017923.3 -1 validated p.K99N 1.000 160 0% 133 30.8% 1 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_RINGv,HMMPfam_zf-C3HC4 TRIM75 391714 genome.wustl.edu 37 4 165981169 165981169 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000322402 +1 known p.K290N 0.000 154 0% 181 27.1% 0 - - - - NULL TLL1 7092 genome.wustl.edu 37 4 166910536 166910536 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012464.3 +1 reviewed p.V58A 1.000 144 0% 109 29.4% 0 - benign(0.001) tolerated(1) - NULL TLL1 7092 genome.wustl.edu 37 4 166964494 166964494 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012464.3 +1 reviewed p.R483C 1.000 505 0.2% 377 30% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TLL1 7092 genome.wustl.edu 37 4 166987008 166987008 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012464.3 +1 reviewed p.F727L 0.996 193 0% 165 30.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TLL1 7092 genome.wustl.edu 37 4 167020465 167020465 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012464.3 +1 reviewed p.R898I 1.000 281 0.4% 232 37.5% 0 - benign(0.408) deleterious(0.02) deleterious(0.515) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DDX60 55601 genome.wustl.edu 37 4 169172230 169172230 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017631.5 -1 validated p.K1245Q 0.004 213 0% 134 27.6% 2 0% benign(0.115) tolerated(0.23) neutral(0.051) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60 55601 genome.wustl.edu 37 4 169197292 169197292 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017631.5 -1 validated p.M673I 1.000 147 0% 147 31.3% 2 0% benign(0.345) tolerated(0.35) neutral(0.130) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60 55601 genome.wustl.edu 37 4 169213011 169213011 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017631.5 -1 validated p.K310T 0.123 131 0% 113 31.9% 0 - benign(0.389) deleterious(0.01) deleterious(0.530) NULL DDX60L 91351 genome.wustl.edu 37 4 169315763 169315763 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000514580 -1 known p.G109* 0.022 180 0.6% 111 42.3% 1 0% probably_damaging(1) tolerated(0.64) deleterious(0.503) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60L 91351 genome.wustl.edu 37 4 169343007 169343007 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012967.1 -1 validated p.P766 0.026 299 0% 277 27.1% 1 0% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60L 91351 genome.wustl.edu 37 4 169343724 169343724 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012967.1 -1 validated p.R732I 0.982 94 0% 79 36.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL NEK1 4750 genome.wustl.edu 37 4 170345801 170345801 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012224.1 -1 validated p.A1014E 0.989 175 0% 181 37% 2 50% benign(0.08) deleterious(0) neutral(0.450) NULL C4orf27 54969 genome.wustl.edu 37 4 170652935 170652935 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017867.2 -1 validated p.F277V 0.904 249 0% 167 13.8% 30 13.3% possibly_damaging(0.649) tolerated(0.23) neutral(0.270) HMMPfam_DUF2228 GALNTL6 442117 genome.wustl.edu 37 4 173804049 173804049 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001034845.2 +1 validated p.I344 1.000 319 0.3% 215 26.5% 0 - - - - superfamily_Nucleotide-diphospho-sugar transferases FBXO8 26269 genome.wustl.edu 37 4 175158655 175158655 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012180.2 -1 reviewed p.R290* 1.000 107 0% 139 32.4% 29 44.8% - - - HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain ADAM29 11086 genome.wustl.edu 37 4 175897114 175897114 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130703.1 +1 reviewed p.E146 0.998 222 0% 200 31.5% 0 - - - - HMMPfam_Pep_M12B_propep ADAM29 11086 genome.wustl.edu 37 4 175897858 175897858 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130703.1 +1 reviewed p.I394 0.000 258 0% 241 30.7% 0 - - - - NULL ADAM29 11086 genome.wustl.edu 37 4 175898287 175898287 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130703.1 +1 reviewed p.K537N 0.000 279 0% 299 30.1% 0 - benign(0.009) tolerated(0.52) neutral(0.009) HMMPfam_ADAM_CR,HMMSmart_SM00608 ADAM29 11086 genome.wustl.edu 37 4 175898314 175898314 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130703.1 +1 reviewed p.I546 0.000 363 0% 382 33.5% 0 - - - - HMMPfam_ADAM_CR,HMMSmart_SM00608 ADAM29 11086 genome.wustl.edu 37 4 175898495 175898495 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130703.1 +1 reviewed p.D607Y 0.005 406 0% 442 29.2% 0 - benign(0.054) tolerated(0.07) neutral(0.323) HMMSmart_SM00608 GPM6A 2823 genome.wustl.edu 37 4 176594958 176594958 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005277.3 -1 validated p.G87D 1.000 87 0% 71 22.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Myelin_PLP WDR17 116966 genome.wustl.edu 37 4 177083278 177083278 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170710.4 +1 reviewed p.R959* 0.457 99 0% 85 23.5% 0 - - - - NULL ASB5 140458 genome.wustl.edu 37 4 177136848 177136848 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080874.2 -1 reviewed p.R298Q 1.000 79 0% 60 31.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SOCS_box ASB5 140458 genome.wustl.edu 37 4 177146445 177146445 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080874.2 -1 reviewed p.R82C 1.000 264 0.4% 221 27.1% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat NEIL3 55247 genome.wustl.edu 37 4 178274465 178274465 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018248.2 +1 validated p.S348L 0.970 186 0% 145 10.3% 0 - benign(0.01) tolerated(0.06) neutral(0.323) NULL ODZ3 55714 genome.wustl.edu 37 4 183245337 183245337 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080477.1 +1 provisional p.S55L 1.000 115 0% 94 22.3% 0 - probably_damaging(0.978) tolerated(0.12) deleterious(0.681) HMMPfam_Ten_N ODZ3 55714 genome.wustl.edu 37 4 183594308 183594308 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080477.1 +1 provisional p.S421Y 1.000 40 0% 31 29% 0 - possibly_damaging(0.902) deleterious(0) deleterious(0.801) NULL ODZ3 55714 genome.wustl.edu 37 4 183652104 183652104 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080477.1 +1 provisional p.H927N 1.000 73 0% 70 37.1% 0 - benign(0.149) deleterious(0.01) neutral(0.419) superfamily_CarboxypepD_reg,superfamily_ConA_like_lec_gl ODZ3 55714 genome.wustl.edu 37 4 183659619 183659619 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080477.1 +1 provisional p.L1101M 0.756 260 0% 254 11.8% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) superfamily_ConA_like_lec_gl ODZ3 55714 genome.wustl.edu 37 4 183713469 183713469 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080477.1 +1 provisional p.E1882K 1.000 149 0.7% 104 31.7% 2 0% possibly_damaging(0.62) deleterious(0.01) deleterious(0.622) NULL DCTD 1635 genome.wustl.edu 37 4 183836130 183836130 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012732.1 -1 reviewed p.V75M 0.154 64 1.6% 57 22.8% 57 42.1% benign(0.011) deleterious(0.04) neutral(0.349) HMMPfam_dCMP_cyt_deam_1,superfamily_Cytidine_deaminase-like WWC2 80014 genome.wustl.edu 37 4 184201998 184201998 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024949.5 +1 validated p.E878* 1.000 19 0% 19 36.8% 2 0% - - - NULL CDKN2AIP 55602 genome.wustl.edu 37 4 184367666 184367666 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017632.2 +1 provisional p.S277P 0.167 63 0% 55 38.2% 8 37.5% unknown(0) deleterious(0) - NULL CCDC111 201973 genome.wustl.edu 37 4 185593505 185593505 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152683.2 +1 validated p.S245 0.000 91 0% 75 29.3% 1 100% - - - NULL MLF1IP 79682 genome.wustl.edu 37 4 185618876 185618876 + Nonsense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024629.3 -1 validated p.Y356* 0.022 57 0% 51 27.5% 24 8.3% - - - NULL ACSL1 2180 genome.wustl.edu 37 4 185687835 185687835 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001995.2 -1 reviewed p.R402C 0.996 76 0% 78 41% 6 66.6% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) superfamily_Acetyl-CoA synthetase-like ACSL1 2180 genome.wustl.edu 37 4 185724531 185724531 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001995.2 -1 reviewed p.T46 0.994 32 0% 31 19.4% 3 0% - - - NULL HELT 391723 genome.wustl.edu 37 4 185941432 185941432 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029887.1 +1 provisional p.L164I 1.000 96 0% 77 32.5% 0 - probably_damaging(0.991) tolerated(0.35) neutral(0.465) superfamily_HLH helix-loop-helix DNA-binding domain SNX25 83891 genome.wustl.edu 37 4 186253873 186253873 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031953.2 +1 validated p.A461V 1.000 197 0% 149 38.3% 5 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SNX25 83891 genome.wustl.edu 37 4 186267715 186267715 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031953.2 +1 validated p.Q574K 1.000 190 0% 164 25.6% 1 0% benign(0.053) deleterious(0.04) neutral(0.352) HMMPfam_PX,HMMSmart_PX,superfamily_PX LRP2BP 55805 genome.wustl.edu 37 4 186295589 186295589 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018409.3 -1 validated p.K119N 0.998 194 0% 172 34.3% 0 - probably_damaging(0.954) deleterious(0.04) deleterious(0.746) HMMSmart_SM00671,superfamily_HCP-like UFSP2 55325 genome.wustl.edu 37 4 186337022 186337022 + Splice_Site SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018359.3 -1 validated e5-1 1.000 122 0% 163 26.4% 0 - - - - - CCDC110 256309 genome.wustl.edu 37 4 186379328 186379328 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152775.3 -1 validated p.E805K 0.170 118 0% 97 38.1% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL CCDC110 256309 genome.wustl.edu 37 4 186380127 186380127 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152775.3 -1 validated p.Q538H 0.953 144 0% 147 29.3% 0 - benign(0.107) deleterious(0.02) neutral(0.392) NULL SORBS2 8470 genome.wustl.edu 37 4 186545037 186545037 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021069.4 -1 reviewed p.E512K 0.998 106 0% 101 35.6% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL TLR3 7098 genome.wustl.edu 37 4 187004932 187004932 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003265.2 +1 reviewed p.D698N 1.000 427 0% 456 28.9% 2 0% benign(0) deleterious(0.04) neutral(0.349) NULL TLR3 7098 genome.wustl.edu 37 4 187005266 187005266 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003265.2 +1 reviewed p.R809I 0.091 155 0% 136 25% 2 0% possibly_damaging(0.649) tolerated(0.07) deleterious(0.547) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR CYP4V2 285440 genome.wustl.edu 37 4 187130246 187130246 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207352.3 +1 reviewed e10-1 1.000 291 0% 328 28% 0 - - - - - KLKB1 3818 genome.wustl.edu 37 4 187175830 187175830 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000892.3 +1 reviewed p.E468* 0.859 139 0% 86 33.7% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys F11 2160 genome.wustl.edu 37 4 187201533 187201533 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000128.3 +1 reviewed p.E341G 0.001 264 0% 252 13.5% 0 - benign(0) tolerated(0.37) neutral(0.019) HMMSmart_SM00223,PatternScan_APPLE,HMMPfam_PAN_1 FAT1 2195 genome.wustl.edu 37 4 187524656 187524656 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005245.3 -1 reviewed p.R3675M 0.938 61 0% 28 17.9% 3 0% probably_damaging(0.967) deleterious(0.01) deleterious(0.815) superfamily_Concanavalin A-like lectins/glucanases FAT1 2195 genome.wustl.edu 37 4 187524992 187524992 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005245.3 -1 reviewed p.V3563A 1.000 71 0% 54 35.2% 10 0% probably_damaging(0.979) tolerated(0.14) deleterious(0.671) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187525724 187525724 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005245.3 -1 reviewed p.N3452I 1.000 36 0% 35 37.1% 9 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187532760 187532760 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005245.3 -1 reviewed p.T3211 0.900 135 0% 81 27.2% 4 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187539937 187539937 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005245.3 -1 reviewed p.Y2601 1.000 85 0% 59 20.3% 2 0% - - - HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187542848 187542848 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005245.3 -1 reviewed p.A1631V 0.180 92 0% 86 26.7% 1 0% benign(0) tolerated(0.33) neutral(0.024) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187549725 187549725 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005245.3 -1 reviewed p.R1506C 1.000 121 0% 106 25.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187628499 187628499 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005245.3 -1 reviewed p.F828C 1.000 233 0% 205 28.8% 0 - possibly_damaging(0.778) tolerated(0.12) deleterious(0.551) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187630552 187630552 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005245.3 -1 reviewed p.D144Y 1.000 262 0% 221 24.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,superfamily_Cadherin-like ZFP42 132625 genome.wustl.edu 37 4 188924653 188924653 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174900.3 +1 validated p.K231T 0.990 174 0% 159 32.1% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PLEKHG4B 153478 genome.wustl.edu 37 5 155059 155059 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052909.3 +1 validated p.D332N 0.026 62 0% 64 31.2% 16 50% probably_damaging(0.995) tolerated(0.48) neutral(0.468) NULL ZDHHC11B 653082 genome.wustl.edu 37 5 733876 733876 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_926053.4 -1 model p.S338 0.000 128 0% 114 16.7% 0 - - - - NULL ZDHHC11B 653082 genome.wustl.edu 37 5 766978 766978 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_926053.4 -1 model p.N19 0.000 47 0% 31 12.9% 0 - - - - NULL ZDHHC11 79844 genome.wustl.edu 37 5 819650 819650 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024786.2 -1 validated p.S379L 0.001 136 0% 69 29% 0 - benign(0.119) - - NULL ZDHHC11 79844 genome.wustl.edu 37 5 825328 825328 + Nonsense_Mutation SNP A A C rs66846455 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024786.2 -1 validated p.L325* 0.000 99 0% 99 26.3% 0 - - - - NULL ADAMTS16 170690 genome.wustl.edu 37 5 5235148 5235148 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139056.2 +1 reviewed p.F624L 1.000 115 0.9% 83 24.1% 0 - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,PatternScan_CARBAMOYLTRANSFERASE KIAA0947 23379 genome.wustl.edu 37 5 5464162 5464162 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015325.1 +1 validated p.A1572V 0.000 115 0.9% 129 34.9% 10 30% benign(0.002) tolerated(0.21) neutral(0.044) NULL KIAA0947 23379 genome.wustl.edu 37 5 5464789 5464789 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015325.1 +1 validated p.A1781D 0.002 52 1.9% 57 38.6% 10 20% possibly_damaging(0.849) tolerated(0.1) deleterious(0.613) NULL NSUN2 54888 genome.wustl.edu 37 5 6620243 6620243 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017755.4 -1 validated p.R264Q 1.000 118 0% 168 21.4% 20 80% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SSF53335 NSUN2 54888 genome.wustl.edu 37 5 6625745 6625745 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017755.4 -1 validated p.R133* 1.000 88 0% 74 24.3% 21 4.7% - - - superfamily_SSF53335 ADCY2 108 genome.wustl.edu 37 5 7520874 7520874 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020546.2 +1 reviewed p.I144 1.000 182 0% 133 27.8% 0 - - - - NULL ADCY2 108 genome.wustl.edu 37 5 7724687 7724687 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020546.2 +1 reviewed p.R578I 1.000 178 0% 126 33.3% 0 - possibly_damaging(0.463) tolerated(0.08) neutral(0.452) HMMPfam_DUF1053 ADCY2 108 genome.wustl.edu 37 5 7727351 7727351 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020546.2 +1 reviewed p.I616M 0.148 134 0% 114 25.4% 0 - benign(0.012) deleterious(0.02) neutral(0.384) NULL FASTKD3 79072 genome.wustl.edu 37 5 7867578 7867578 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024091.2 -1 validated p.R207C 0.631 138 0% 121 32.2% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTRR 4552 genome.wustl.edu 37 5 7895872 7895872 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024010.2 +1 reviewed p.N555T 0.000 363 0% 249 23.3% 9 11.1% benign(0.058) tolerated(0.26) neutral(0.038) NULL SEMA5A 9037 genome.wustl.edu 37 5 9108298 9108298 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003966.2 -1 reviewed p.R676H 1.000 57 0% 27 22.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 SEMA5A 9037 genome.wustl.edu 37 5 9190430 9190430 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003966.2 -1 reviewed p.D408N 1.000 41 0% 47 14.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema TAS2R1 50834 genome.wustl.edu 37 5 9629621 9629621 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019599.2 -1 reviewed p.Q175P 0.000 214 0% 188 31.4% 0 - benign(0.027) tolerated(0.12) neutral(0.262) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R1 50834 genome.wustl.edu 37 5 9629945 9629945 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019599.2 -1 reviewed p.V67A 0.001 143 0% 142 19% 0 - benign(0.055) deleterious(0.03) neutral(0.368) HMMPfam_TAS2R,superfamily_SSF81321 CCT5 22948 genome.wustl.edu 37 5 10250474 10250474 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012073.3 +1 reviewed p.A8T 1.000 15 0% 13 46.2% 123 34.9% benign(0.002) deleterious(0.05) neutral(0.345) NULL CCT5 22948 genome.wustl.edu 37 5 10256222 10256222 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012073.3 +1 reviewed p.E163K 1.000 63 0% 52 34.6% 344 40.9% benign(0.011) deleterious(0.02) neutral(0.384) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL-intermediate domain like DNAH5 1767 genome.wustl.edu 37 5 13717498 13717498 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001369.2 -1 reviewed p.E4211K 1.000 88 0% 71 38% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13727761 13727761 + Missense_Mutation SNP G G A rs191057833 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001369.2 -1 reviewed p.S3963L 1.000 184 0% 122 23% 1 100% benign(0.01) tolerated(0.26) neutral(0.035) HMMPfam_Dynein_heavy DNAH5 1767 genome.wustl.edu 37 5 13752336 13752336 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001369.2 -1 reviewed p.R3645 0.991 271 0% 263 29.3% 0 - - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13776654 13776654 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001369.2 -1 reviewed p.S3089 0.036 304 0% 315 34.3% 0 - - - - superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13793818 13793818 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001369.2 -1 reviewed p.R2677Q 1.000 179 0% 180 33.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13841916 13841916 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001369.2 -1 reviewed p.N1790T 1.000 240 0% 184 14.1% 2 0% benign(0.002) tolerated(0.64) neutral(0.003) HMMPfam_DHC_N2 TRIO 7204 genome.wustl.edu 37 5 14359632 14359632 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007118.2 +1 validated p.A795T 1.000 65 0% 53 26.4% 1 0% unknown(0) tolerated(0.35) - NULL TRIO 7204 genome.wustl.edu 37 5 14389400 14389400 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007118.2 +1 validated p.T1317 0.999 57 0% 79 29.1% 7 42.8% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TRIO 7204 genome.wustl.edu 37 5 14399069 14399069 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007118.2 +1 validated p.R1502* 1.000 238 0% 243 34.6% 9 11.1% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like LOC100287064 100287064 genome.wustl.edu 37 5 14653312 14653312 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342492.1 +1 model p.K79N 1.000 152 0% 131 32.1% 0 - - - - NULL FAM134B 54463 genome.wustl.edu 37 5 16474907 16474907 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000510362 -1 known p.K199R 0.396 324 0% 293 28.3% 1 0% - - - NULL MYO10 4651 genome.wustl.edu 37 5 16668425 16668425 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012334.2 -1 validated p.I2012 0.993 270 0% 184 29.9% 67 53.7% - - - NULL MYO10 4651 genome.wustl.edu 37 5 16673971 16673971 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012334.2 -1 validated p.E1664 1.000 67 0% 100 39% 46 41.3% - - - HMMPfam_MyTH4,HMMSmart_MyTH4 MYO10 4651 genome.wustl.edu 37 5 16818257 16818257 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012334.2 -1 validated p.S47I 1.000 34 0% 33 24.2% 16 50% benign(0.285) tolerated(0.21) neutral(0.132) superfamily_SSF52540 BASP1 10409 genome.wustl.edu 37 5 17275336 17275336 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006317.3 +1 reviewed p.K4T 1.000 128 0% 101 24.8% 34 47% unknown(0) deleterious(0) - HMMPfam_BASP1 BASP1 10409 genome.wustl.edu 37 5 17275538 17275538 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006317.3 +1 reviewed p.G71 0.971 17 0% 33 33.3% 25 32% - - - HMMPfam_BASP1 CDH18 1016 genome.wustl.edu 37 5 19571845 19571845 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004934.3 -1 reviewed p.D366Y 1.000 209 0% 149 26.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CA,superfamily_Cadherin CDH12 1010 genome.wustl.edu 37 5 21751878 21751878 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004061.3 -1 reviewed p.E785* 1.000 299 0% 248 29.8% 0 - - - - HMMPfam_Cadherin_C PRDM9 56979 genome.wustl.edu 37 5 23510115 23510115 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020227.2 +1 provisional p.E94* 1.000 125 0% 91 28.6% 0 - - - - NULL PRDM9 56979 genome.wustl.edu 37 5 23526541 23526541 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020227.2 +1 provisional p.N448 0.001 201 0% 155 24.5% 0 - - - - NULL PRDM9 56979 genome.wustl.edu 37 5 23526610 23526610 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020227.2 +1 provisional p.E471D 0.000 190 0% 148 32.4% 0 - benign(0.105) tolerated(0.34) neutral(0.031) NULL CDH10 1008 genome.wustl.edu 37 5 24537528 24537528 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006727.2 -1 reviewed p.E163* 1.000 194 0% 125 32.8% 0 - - - - superfamily_Cadherin CDH10 1008 genome.wustl.edu 37 5 24537668 24537668 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006727.2 -1 reviewed p.R116Q 1.000 145 0% 89 36% 0 - probably_damaging(0.984) deleterious(0.02) deleterious(0.814) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin LOC729862 729862 genome.wustl.edu 37 5 28927641 28927641 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_040872.2 +1 model NULL 0.103 7 0.000 6 0.667 0 - - - - - CDH6 1004 genome.wustl.edu 37 5 31323104 31323104 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004932.2 +1 reviewed p.L688V 0.368 154 0% 144 27.1% 3 0% possibly_damaging(0.532) tolerated(0.52) neutral(0.189) HMMPfam_Cadherin_C DROSHA 29102 genome.wustl.edu 37 5 31493374 31493374 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013235.4 -1 validated p.Y594 1.000 31 0% 28 17.9% 11 45.4% - - - NULL PDZD2 23037 genome.wustl.edu 37 5 31799548 31799548 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178140.2 +1 reviewed p.E65K 0.856 116 0% 141 27.7% 0 - benign(0.026) deleterious(0) neutral(0.446) superfamily_PDZ domain-like PDZD2 23037 genome.wustl.edu 37 5 32108234 32108234 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178140.2 +1 reviewed p.S2838Y 0.000 150 0% 118 26.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GOLPH3 64083 genome.wustl.edu 37 5 32126465 32126465 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022130.3 -1 reviewed p.E250D 1.000 197 0% 204 27.5% 76 39.4% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) HMMPfam_GPP34 MTMR12 54545 genome.wustl.edu 37 5 32230300 32230300 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040446.1 -1 reviewed p.R610* 0.344 183 0% 176 25.6% 24 62.5% - - - superfamily_(Phosphotyrosine protein) phosphatases II ZFR 51663 genome.wustl.edu 37 5 32397417 32397417 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016107.3 -1 validated p.R581W 1.000 160 0% 125 28.8% 19 52.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ADAMTS12 81792 genome.wustl.edu 37 5 33577232 33577232 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030955.2 -1 reviewed p.R967C 1.000 442 0% 337 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS12 81792 genome.wustl.edu 37 5 33658334 33658334 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030955.2 -1 reviewed p.S382L 0.971 232 0% 196 31.6% 2 0% probably_damaging(0.979) deleterious(0.03) deleterious(0.786) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS12 81792 genome.wustl.edu 37 5 33662055 33662055 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030955.2 -1 reviewed p.P336S 1.000 218 0% 158 29.7% 0 - probably_damaging(1) tolerated(0.43) deleterious(0.513) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" SLC45A2 51151 genome.wustl.edu 37 5 33963819 33963819 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016180.3 -1 reviewed p.K289Q 0.005 206 0% 171 28.7% 0 - probably_damaging(0.983) tolerated(0.32) neutral(0.453) superfamily_MFS general substrate transporter RAI14 26064 genome.wustl.edu 37 5 34796116 34796116 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145525.1 +1 validated p.T83 1.000 246 0% 276 29.3% 14 64.2% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK DNAJC21 134218 genome.wustl.edu 37 5 34937595 34937595 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194283.3 +1 validated p.E201 0.995 83 0% 77 33.8% 23 47.8% - - - NULL AGXT2 64902 genome.wustl.edu 37 5 35014122 35014122 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031900.3 -1 reviewed p.F356V 1.000 369 0% 425 31.8% 0 - probably_damaging(0.994) tolerated(0.11) deleterious(0.724) HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major SPEF2 79925 genome.wustl.edu 37 5 35763653 35763653 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024867.3 +1 validated p.S1217Y 1.000 176 0% 164 36% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL SPEF2 79925 genome.wustl.edu 37 5 35814649 35814649 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024867.3 +1 validated p.K1821N 1.000 302 0% 222 30.6% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL CAPSL 133690 genome.wustl.edu 37 5 35909957 35909957 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000514524 -1 known p.R179I 0.000 306 0% 269 36.4% 0 - benign(0.138) deleterious(0.02) neutral(0.395) NULL UGT3A1 133688 genome.wustl.edu 37 5 35966015 35966015 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152404.3 -1 validated p.E106* 0.000 245 0% 251 34.7% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT3A1 133688 genome.wustl.edu 37 5 35991271 35991271 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152404.3 -1 validated p.K24N 0.998 373 0% 343 14% 0 - probably_damaging(0.998) tolerated(0.33) deleterious(0.498) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT3A2 167127 genome.wustl.edu 37 5 36049146 36049146 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174914.3 -1 validated p.T230A 0.635 437 0% 370 33% 0 - benign(0) tolerated(0.63) neutral(0.004) HMMPfam_UDPGT,superfamily_SSF53756 NADKD1 133686 genome.wustl.edu 37 5 36195297 36195297 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000502355 -1 known p.R121Q 0.617 152 0% 104 32.7% 12 50% - - - NULL NIPBL 25836 genome.wustl.edu 37 5 36975990 36975990 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133433.3 +1 reviewed p.K327N 1.000 215 0% 227 36.1% 5 80% probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37014831 37014831 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133433.3 +1 reviewed p.R1536Q 1.000 176 0% 138 24.6% 16 62.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_ARM repeat C5orf42 65250 genome.wustl.edu 37 5 37121861 37121861 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023073.3 -1 predicted p.R1859C 0.184 190 0% 217 32.7% 4 25% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL C5orf42 65250 genome.wustl.edu 37 5 37164388 37164388 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023073.3 -1 predicted p.F1405 0.018 120 0% 123 30.1% 3 0% - - - NULL EGFLAM 133584 genome.wustl.edu 37 5 38350642 38350642 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152403.2 +1 validated p.R111C 0.637 212 0% 213 30% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like EGFLAM 133584 genome.wustl.edu 37 5 38352399 38352399 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152403.2 +1 validated p.A171T 0.987 353 0.6% 276 30.4% 1 0% benign(0.15) deleterious(0.01) neutral(0.419) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like EGFLAM 133584 genome.wustl.edu 37 5 38370532 38370532 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152403.2 +1 validated p.R227H 0.996 76 0% 69 20.3% 2 0% probably_damaging(0.989) deleterious(0.05) deleterious(0.785) HMMPfam_fn3,superfamily_FN_III-like LIFR 3977 genome.wustl.edu 37 5 38485952 38485952 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127671.1 -1 reviewed p.E822 1.000 141 0% 110 36.4% 0 - - - - HMMPfam_fn3,superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38493808 38493808 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127671.1 -1 reviewed p.C655 0.277 229 0% 203 28.6% 0 - - - - PatternScan_HEMATOPO_REC_L_F2,superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38502811 38502811 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127671.1 -1 reviewed p.R510C 1.000 85 0% 76 18.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38506605 38506605 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127671.1 -1 reviewed p.S374I 1.000 161 0% 153 15% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00060,superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38510602 38510602 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127671.1 -1 reviewed p.E319K 0.001 160 0% 174 29.3% 0 - possibly_damaging(0.597) tolerated(0.57) neutral(0.212) NULL RICTOR 253260 genome.wustl.edu 37 5 38949526 38949526 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000296782 -1 known p.I1380 1.000 56 0% 37 43.2% 0 - - - - superfamily_ARM-type_fold FYB 2533 genome.wustl.edu 37 5 39202524 39202524 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001465.3 -1 validated p.F180C 0.973 225 0% 215 29.8% 4 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL FYB 2533 genome.wustl.edu 37 5 39203033 39203033 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001465.3 -1 validated p.P10 0.016 213 0% 157 32.5% 3 0% - - - NULL C9 735 genome.wustl.edu 37 5 39306721 39306721 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001737.3 -1 reviewed p.K472Q 0.597 286 0% 199 29.6% 0 - possibly_damaging(0.837) tolerated(0.07) deleterious(0.639) HMMPfam_MACPF,HMMSmart_MACPF C9 735 genome.wustl.edu 37 5 39306823 39306823 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001737.3 -1 reviewed p.F438V 0.000 321 0% 224 31.2% 0 - benign(0) tolerated(0.94) - HMMPfam_MACPF,HMMSmart_MACPF DAB2 1601 genome.wustl.edu 37 5 39383033 39383033 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001343.2 -1 validated p.F343S 1.000 178 0% 174 28.2% 12 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL DAB2 1601 genome.wustl.edu 37 5 39383265 39383265 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001343.2 -1 validated p.P266S 1.000 286 0% 240 11.3% 17 0% probably_damaging(1) tolerated(0.94) deleterious(0.500) NULL DAB2 1601 genome.wustl.edu 37 5 39383332 39383332 + Silent SNP G G A rs145830813 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001343.2 -1 validated p.I243 1.000 254 0.4% 221 30.3% 19 0% - - - NULL DAB2 1601 genome.wustl.edu 37 5 39390600 39390600 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001343.2 -1 validated p.Y136 0.318 114 0% 123 29.3% 6 0% - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like PTGER4 5734 genome.wustl.edu 37 5 40681577 40681577 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000958.2 +1 reviewed p.S161L 0.881 56 0% 55 20% 4 50% benign(0.02) tolerated(0.63) neutral(0.005) HMMPfam_7tm_1,superfamily_SSF81321 CARD6 84674 genome.wustl.edu 37 5 40853287 40853287 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032587.3 +1 reviewed p.R618I 0.000 370 0% 367 33.5% 0 - probably_damaging(0.962) tolerated(0.1) deleterious(0.692) NULL C7 730 genome.wustl.edu 37 5 40945315 40945315 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000587.2 +1 reviewed p.D195Y 1.000 49 0% 36 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HEATR7B2 133558 genome.wustl.edu 37 5 41015482 41015482 + Splice_Site SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173489.4 -1 validated e29+1 1.000 123 0% 90 26.7% 0 - - - - - HEATR7B2 133558 genome.wustl.edu 37 5 41019001 41019001 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173489.4 -1 validated p.D854A 1.000 174 0% 121 28.1% 0 - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41049454 41049454 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173489.4 -1 validated p.L477M 0.292 94 0% 78 33.3% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41057277 41057277 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173489.4 -1 validated p.C285G 1.000 92 0% 62 29% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) superfamily_ARM repeat C6 729 genome.wustl.edu 37 5 41159289 41159289 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000065.2 -1 reviewed p.S584L 0.731 159 0% 147 34.7% 0 - benign(0.389) tolerated(0.69) neutral(0.127) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 OXCT1 5019 genome.wustl.edu 37 5 41870407 41870407 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000436.3 -1 reviewed p.R18 0.001 30 0% 17 35.3% 4 0% - - - NULL NIM1 167359 genome.wustl.edu 37 5 43246014 43246014 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153361.2 +1 provisional p.T46M 1.000 142 0% 151 13.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NIM1 167359 genome.wustl.edu 37 5 43246106 43246106 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153361.2 +1 provisional p.R77* 1.000 120 0% 137 35.8% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C5orf34 375444 genome.wustl.edu 37 5 43509282 43509282 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000306862 -1 known p.R54C 1.000 166 0% 121 34.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FGF10 2255 genome.wustl.edu 37 5 44388712 44388712 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004465.1 -1 reviewed p.L25 0.987 87 0% 90 27.8% 2 0% - - - NULL MRPS30 10884 genome.wustl.edu 37 5 44811233 44811233 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016640.3 +1 reviewed p.R242* 1.000 70 0% 101 19.8% 26 0% - - - HMMPfam_PDCD9 HCN1 348980 genome.wustl.edu 37 5 45396615 45396615 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021072.2 -1 validated p.S403 0.726 69 0% 80 32.5% 0 - - - - superfamily_cNMP_binding,superfamily_SSF81324 EMB 133418 genome.wustl.edu 37 5 49698142 49698142 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198449.2 -1 reviewed p.E297* 1.000 120 0% 99 11.1% 3 0% - - - NULL ITGA1 3672 genome.wustl.edu 37 5 52206002 52206002 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181501.1 +1 reviewed p.E537V 1.000 112 0% 98 21.4% 11 9% probably_damaging(0.998) tolerated(0.33) deleterious(0.498) HMMSmart_Int_alpha,superfamily_SSF69318 ITGA1 3672 genome.wustl.edu 37 5 52206140 52206140 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181501.1 +1 reviewed p.L583R 1.000 81 0% 69 34.8% 7 0% probably_damaging(0.996) tolerated(0.21) deleterious(0.506) HMMPfam_FG-GAP,HMMSmart_Int_alpha,superfamily_SSF69318 MOCS2 4338 genome.wustl.edu 37 5 52398001 52398001 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004531.3 -1 reviewed p.A51V 0.001 65 0% 65 27.7% 37 32.4% benign(0.003) tolerated(0.32) neutral(0.024) HMMPfam_MoaE,superfamily_Mb_biosynth_MoaE ESM1 11082 genome.wustl.edu 37 5 54277939 54277939 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007036.4 -1 reviewed p.E113* 0.589 113 0% 104 29.8% 9 0% - - - NULL GZMK 3003 genome.wustl.edu 37 5 54327308 54327308 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002104.2 +1 reviewed p.D160E 0.000 147 0% 132 31.8% 16 0% benign(0) tolerated(0.95) - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases GZMA 3001 genome.wustl.edu 37 5 54401343 54401343 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006144.3 +1 reviewed p.H38N 1.000 168 0% 118 30.5% 20 0% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CDC20B 166979 genome.wustl.edu 37 5 54424271 54424271 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152623.2 -1 validated p.G291D 1.000 144 0% 120 28.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like MIR449B 693123 genome.wustl.edu 37 5 54466484 54466484 + RNA SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000384995 -1 known NULL 0.000 107 0% 90 31.1% 0 - - - - - SKIV2L2 23517 genome.wustl.edu 37 5 54640940 54640940 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015360.4 +1 validated p.N342H 1.000 95 0% 112 29.5% 8 25% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_SSF52540 DDX4 54514 genome.wustl.edu 37 5 55110988 55110988 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024415.2 +1 validated p.V659L 1.000 289 0% 209 40.7% 0 - possibly_damaging(0.929) deleterious(0.01) deleterious(0.782) superfamily_P-loop containing nucleoside triphosphate hydrolases IL6ST 3572 genome.wustl.edu 37 5 55237430 55237430 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002184.2 -1 reviewed p.E746A 1.000 307 0% 275 32% 9 55.5% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL ANKRD55 79722 genome.wustl.edu 37 5 55455722 55455722 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024669.2 -1 validated e5-2 0.999 120 0% 106 29.2% 0 - - - - - LOC345645 345645 genome.wustl.edu 37 5 55571155 55571155 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342506.1 -1 model p.E407K 1.000 23 0% 27 44.4% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases LOC345645 345645 genome.wustl.edu 37 5 55572055 55572055 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342506.1 -1 model p.S121N 1.000 74 0% 78 28.2% 0 - - - - NULL MAP3K1 4214 genome.wustl.edu 37 5 56160643 56160643 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005921.1 +1 validated p.R306H 1.000 156 0% 118 30.5% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MAP3K1 4214 genome.wustl.edu 37 5 56177887 56177887 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005921.1 +1 validated p.P954T 1.000 189 1.1% 160 28.7% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL GPBP1 65056 genome.wustl.edu 37 5 56527024 56527024 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127235.2 +1 validated p.R96H 1.000 121 0% 163 34.4% 40 40% benign(0.078) tolerated(0.08) neutral(0.305) NULL ACTBL2 345651 genome.wustl.edu 37 5 56777664 56777664 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017992.2 -1 validated p.R291C 1.000 109 0% 116 30.2% 1 100% probably_damaging(0.997) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ACTBL2 345651 genome.wustl.edu 37 5 56778003 56778003 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017992.2 -1 validated p.R178C 1.000 165 0% 112 34.8% 0 - probably_damaging(0.964) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain PLK2 10769 genome.wustl.edu 37 5 57752910 57752910 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006622.2 -1 validated p.P340T 1.000 84 0% 73 38.4% 36 47.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like GAPT 202309 genome.wustl.edu 37 5 57790470 57790470 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152687.2 +1 provisional p.R36H 0.000 172 0% 177 25.4% 0 - benign(0) tolerated(0.16) neutral(0.059) NULL GAPT 202309 genome.wustl.edu 37 5 57790676 57790676 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152687.2 +1 provisional p.G105* 0.000 210 0% 209 31.6% 0 - - - - NULL PDE4D 5144 genome.wustl.edu 37 5 59064263 59064263 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000507116 -1 known p.L25 1.000 164 0% 124 30.6% 1 0% - - - NULL DEPDC1B 55789 genome.wustl.edu 37 5 59934600 59934600 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018369.2 -1 validated p.F292C 1.000 143 0% 93 39.8% 7 57.1% benign(0.311) tolerated(0.08) neutral(0.397) HMMPfam_RhoGAP,superfamily_GTPase activation domain GAP IPO11 51194 genome.wustl.edu 37 5 61738898 61738898 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134779.1 +1 validated p.R116H 1.000 81 0% 75 26.7% 9 22.2% benign(0.053) deleterious(0.01) neutral(0.409) HMMPfam_IBN_N,superfamily_ARM repeat ENSG00000199279 0 genome.wustl.edu 37 5 61739051 61739051 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000362409 +1 novel NULL 0.000 16 0% 23 26.1% 0 - - - - - HTR1A 3350 genome.wustl.edu 37 5 63257363 63257363 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000524.2 -1 validated p.A62T 1.000 46 0% 42 26.2% 0 - benign(0.386) tolerated(0.06) neutral(0.446) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ADAMTS6 11174 genome.wustl.edu 37 5 64520157 64520157 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_197941.2 -1 reviewed p.K754N 0.999 233 0% 153 30.7% 0 - possibly_damaging(0.437) tolerated(0.54) neutral(0.150) HMMPfam_ADAM_spacer1 ADAMTS6 11174 genome.wustl.edu 37 5 64569234 64569234 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_197941.2 -1 reviewed p.R518H 1.000 184 0% 164 27.4% 1 100% probably_damaging(0.984) deleterious(0.05) deleterious(0.776) NULL TRIM23 373 genome.wustl.edu 37 5 64913979 64913979 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001656.3 -1 reviewed p.R62H 1.000 76 0% 86 31.4% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box SGTB 54557 genome.wustl.edu 37 5 64968091 64968091 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019072.2 -1 validated p.Q233 1.000 209 0% 197 30.5% 5 0% - - - NULL ERBB2IP 55914 genome.wustl.edu 37 5 65288560 65288560 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018695.2 +1 reviewed p.R5Q 1.000 251 0% 243 29.2% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ERBB2IP 55914 genome.wustl.edu 37 5 65350256 65350256 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018695.2 +1 reviewed p.R1037Q 0.998 294 0% 233 27% 25 24% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL MAST4 375449 genome.wustl.edu 37 5 66440541 66440541 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000443808 +1 known p.E49* 0.997 89 0% 51 27.5% 1 0% benign(0.004) tolerated(0.59) neutral(0.004) NULL MAST4 375449 genome.wustl.edu 37 5 66462704 66462704 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015183.2 +1 validated p.A2377V 0.000 20 0% 16 62.5% 3 0% benign(0) deleterious(0) neutral(0.445) NULL PIK3R1 5295 genome.wustl.edu 37 5 67588951 67588951 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181523.1 +1 reviewed p.R348* 1.000 76 0% 73 31.5% 3 0% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain PIK3R1 5295 genome.wustl.edu 37 5 67592129 67592129 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181523.1 +1 reviewed p.R649W 1.000 207 0% 164 29.3% 19 21% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain CCNB1 891 genome.wustl.edu 37 5 68470860 68470860 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031966.2 +1 reviewed p.K288Q 1.000 267 0.4% 235 30.6% 215 53% benign(0.003) tolerated(0.4) neutral(0.016) HMMSmart_CYCLIN,HMMPfam_Cyclin_N,superfamily_Cyclin_like CDK7 1022 genome.wustl.edu 37 5 68555718 68555718 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001799.3 +1 validated p.S161Y 1.000 132 0% 131 35.9% 33 27.2% benign(0) tolerated(0.11) neutral(0.272) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CCDC125 202243 genome.wustl.edu 37 5 68578590 68578590 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176816.3 -1 validated p.R501I 0.040 291 0% 221 26.7% 3 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL BDP1 55814 genome.wustl.edu 37 5 70759924 70759924 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018429.2 +1 reviewed p.S213 0.001 179 0.6% 113 29.2% 0 - - - - NULL BDP1 55814 genome.wustl.edu 37 5 70785285 70785285 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018429.2 +1 reviewed p.S423Y 0.000 169 0% 129 20.2% 1 0% benign(0.273) deleterious(0) deleterious(0.474) NULL BDP1 55814 genome.wustl.edu 37 5 70800527 70800527 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018429.2 +1 reviewed p.S774Y 0.001 132 0% 101 25.7% 1 0% benign(0.318) deleterious(0.04) neutral(0.449) NULL MCCC2 64087 genome.wustl.edu 37 5 70942069 70942069 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022132.4 +1 reviewed p.R394I 1.000 116 0% 109 21.1% 45 62.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase MAP1B 4131 genome.wustl.edu 37 5 71490351 71490351 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005909.3 +1 validated p.K390T 1.000 270 0% 302 26.2% 2 100% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL MAP1B 4131 genome.wustl.edu 37 5 71491087 71491087 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005909.3 +1 validated p.E635 1.000 322 0% 348 30.2% 4 0% - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71491727 71491727 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005909.3 +1 validated p.D849N 0.847 639 0% 685 30.9% 0 - unknown(0) deleterious(0.04) - NULL MAP1B 4131 genome.wustl.edu 37 5 71495733 71495733 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005909.3 +1 validated p.S2184L 1.000 334 0% 296 25% 18 33.3% unknown(0) deleterious(0.02) - NULL MRPS27 23107 genome.wustl.edu 37 5 71593475 71593475 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015084.2 -1 reviewed p.S69Y 1.000 56 0% 48 14.6% 36 22.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_MRP-S27 TNPO1 3842 genome.wustl.edu 37 5 72185728 72185728 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002270.3 +1 reviewed p.L549I 1.000 152 0% 126 27% 56 39.2% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) superfamily_ARM repeat RGNEF 64283 genome.wustl.edu 37 5 72980695 72980695 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080479.2 +1 reviewed p.E7K 0.989 99 1% 72 34.7% 2 0% benign(0) deleterious(0) neutral(0.445) NULL RGNEF 64283 genome.wustl.edu 37 5 73128202 73128202 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080479.2 +1 reviewed p.S355L 0.012 73 0% 69 31.9% 0 - possibly_damaging(0.485) deleterious(0.03) deleterious(0.525) NULL RGNEF 64283 genome.wustl.edu 37 5 73142255 73142255 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080479.2 +1 reviewed p.I530 1.000 134 0% 94 28.7% 0 - - - - NULL HEXB 3074 genome.wustl.edu 37 5 74016271 74016271 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000521.3 +1 reviewed p.Q479R 0.792 303 0% 260 26.2% 153 1.3% benign(0) tolerated(0.3) neutral(0.029) HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases GCNT4 51301 genome.wustl.edu 37 5 74325002 74325002 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016591.2 -1 validated p.I287 0.964 279 0% 227 26.4% 1 0% - - - HMMPfam_Branch HMGCR 3156 genome.wustl.edu 37 5 74651313 74651313 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000859.2 +1 reviewed p.A616T 0.510 255 0% 240 30% 36 44.4% benign(0) tolerated(0.61) neutral(0.004) HMMPfam_HMG-CoA_red,superfamily_NAD-binding domain of HMG-CoA reductase,superfamily_Substrate-binding domain of HMG-CoA reductase COL4A3BP 10087 genome.wustl.edu 37 5 74685485 74685485 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130105.1 -1 reviewed p.T534A 1.000 75 0% 70 35.7% 10 60% benign(0.004) tolerated(0.76) neutral(0.001) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 POLK 51426 genome.wustl.edu 37 5 74872726 74872726 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016218.2 +1 validated p.Y221C 0.244 73 0% 62 27.4% 7 57.1% possibly_damaging(0.568) deleterious(0.03) deleterious(0.559) HMMPfam_IMS,superfamily_DNA/RNA polymerases SV2C 22987 genome.wustl.edu 37 5 75505594 75505594 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014979.1 +1 provisional p.Y265* 1.000 175 0% 136 27.2% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SV2C 22987 genome.wustl.edu 37 5 75596631 75596631 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014979.1 +1 provisional p.T572A 1.000 226 0% 188 36.7% 0 - benign(0.009) deleterious(0.05) neutral(0.346) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter IQGAP2 10788 genome.wustl.edu 37 5 75964620 75964620 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006633.2 +1 validated p.E932* 1.000 128 0% 103 31.1% 2 0% - - - HMMSmart_SM00323,superfamily_GTPase activation domain GAP F2R 2149 genome.wustl.edu 37 5 76028233 76028233 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001992.3 +1 reviewed p.K61N 0.000 186 0% 128 21.9% 15 0% benign(0.011) tolerated(0.21) neutral(0.044) superfamily_SSF81321 F2RL1 2150 genome.wustl.edu 37 5 76128733 76128733 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005242.4 +1 validated p.L101I 0.231 239 0% 264 28.4% 27 40.7% benign(0.022) tolerated(0.29) neutral(0.030) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like S100Z 170591 genome.wustl.edu 37 5 76173619 76173619 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130772.3 +1 validated p.D88Y 1.000 47 0% 70 40% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) superfamily_EF-hand CRHBP 1393 genome.wustl.edu 37 5 76259270 76259270 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001882.3 +1 reviewed p.P266S 1.000 277 0% 307 28.7% 0 - benign(0) tolerated(0.96) - HMMPfam_CRF-BP AGGF1 55109 genome.wustl.edu 37 5 76326683 76326683 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018046.3 +1 validated p.K31T 1.000 11 0% 15 26.7% 2 50% probably_damaging(0.958) tolerated(0.36) neutral(0.422) NULL AGGF1 55109 genome.wustl.edu 37 5 76348566 76348566 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018046.3 +1 validated p.Q467H 1.000 40 0% 28 50% 21 57.1% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_FHA,HMMSmart_SM00240,superfamily_SMAD/FHA domain PDE8B 8622 genome.wustl.edu 37 5 76715606 76715606 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003719.2 +1 validated p.T715M 1.000 107 0% 78 34.6% 1 0% possibly_damaging(0.939) deleterious(0.03) deleterious(0.749) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like OTP 23440 genome.wustl.edu 37 5 76932670 76932670 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032109.2 -1 reviewed p.I141 1.000 105 0% 72 40.3% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 AP3B1 8546 genome.wustl.edu 37 5 77423876 77423876 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003664.3 -1 reviewed p.R649Q 1.000 278 0% 208 31.7% 27 29.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AP3B1 8546 genome.wustl.edu 37 5 77436967 77436967 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003664.3 -1 reviewed p.Q550 1.000 144 0% 144 29.2% 7 0% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat DMGDH 29958 genome.wustl.edu 37 5 78340364 78340364 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013391.2 -1 reviewed p.R253C 1.000 122 0% 86 10.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain BHMT 635 genome.wustl.edu 37 5 78415084 78415084 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001713.2 +1 reviewed p.R57C 1.000 135 0% 105 20% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_S-methyl_trans,superfamily_S_methyl_trans CMYA5 202333 genome.wustl.edu 37 5 79027856 79027856 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153610.3 +1 validated p.A1090S 0.000 252 0% 171 31% 0 - probably_damaging(0.953) tolerated(0.07) deleterious(0.716) NULL CMYA5 202333 genome.wustl.edu 37 5 79028182 79028182 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153610.3 +1 validated p.Q1198H 1.000 182 0% 168 25.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CMYA5 202333 genome.wustl.edu 37 5 79028612 79028612 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153610.3 +1 validated p.E1342K 1.000 130 0% 136 28.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CMYA5 202333 genome.wustl.edu 37 5 79028956 79028956 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153610.3 +1 validated p.E1456 0.177 188 0% 160 33.1% 0 - - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79031476 79031476 + Silent SNP C C T rs183961270 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153610.3 +1 validated p.G2296 0.000 459 0% 284 29.9% 0 - - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79033296 79033296 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153610.3 +1 validated p.N2903T 0.000 318 0% 219 32.4% 0 - possibly_damaging(0.602) deleterious(0.01) deleterious(0.614) NULL CMYA5 202333 genome.wustl.edu 37 5 79034528 79034528 + Missense_Mutation SNP G G A rs185593612 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153610.3 +1 validated p.V3314I 0.000 486 0% 444 31.1% 1 0% benign(0.001) deleterious(0.01) neutral(0.406) NULL MTX3 345778 genome.wustl.edu 37 5 79284998 79284998 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010891.4 -1 validated p.E100K 1.000 45 0% 40 30% 0 - benign(0.164) tolerated(0.31) neutral(0.042) HMMPfam_Tom37 MSH3 4437 genome.wustl.edu 37 5 80024750 80024750 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002439.3 +1 reviewed p.E512* 1.000 317 0% 248 34.3% 4 0% - - - HMMPfam_MutS_II,superfamily_DNA repair protein MutS domain II RASGRF2 5924 genome.wustl.edu 37 5 80390127 80390127 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006909.1 +1 validated p.L522M 1.000 28 0% 39 25.6% 0 - benign(0.352) deleterious(0) deleterious(0.556) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CKMT2 1160 genome.wustl.edu 37 5 80559419 80559419 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099735.1 +1 reviewed p.R375I 1.000 189 0% 149 25.5% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ATP-gua_Ptrans,superfamily_SSF55931 ATP6AP1L 92270 genome.wustl.edu 37 5 81608496 81608496 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017971.1 +1 provisional p.I66 0.190 178 0% 129 31% 3 66.6% - - - HMMPfam_ATP-synt_S1 VCAN 1462 genome.wustl.edu 37 5 82789695 82789695 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004385.4 +1 reviewed p.G231 0.008 151 0% 116 30.2% 8 0% - - - HMMPfam_Xlink,HMMSmart_SM00445,superfamily_C-type lectin-like VCAN 1462 genome.wustl.edu 37 5 82815203 82815203 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004385.4 +1 reviewed p.A360T 0.996 196 0% 174 34.5% 0 - benign(0.015) tolerated(0.5) neutral(0.011) NULL VCAN 1462 genome.wustl.edu 37 5 82816178 82816178 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004385.4 +1 reviewed p.E685* 0.042 201 0% 162 22.8% 0 - - - - NULL VCAN 1462 genome.wustl.edu 37 5 82835388 82835388 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004385.4 +1 reviewed p.G2189D 0.000 264 0% 232 33.6% 21 0% probably_damaging(1) - - NULL VCAN 1462 genome.wustl.edu 37 5 82836701 82836701 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004385.4 +1 reviewed p.V2627I 0.000 191 0% 190 30% 32 0% benign(0.055) - - NULL HAPLN1 1404 genome.wustl.edu 37 5 82940268 82940268 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001884.3 -1 validated p.N230S 1.000 68 0% 81 39.5% 2 0% benign(0.02) tolerated(0.21) neutral(0.045) HMMPfam_Xlink,HMMSmart_SM00445,superfamily_C-type lectin-like HAPLN1 1404 genome.wustl.edu 37 5 82948556 82948556 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001884.3 -1 validated p.F63C 1.000 219 0% 147 27.2% 2 0% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin EDIL3 10085 genome.wustl.edu 37 5 83525687 83525687 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005711.3 -1 reviewed p.E71G 1.000 130 0% 85 22.4% 4 0% benign(0.079) tolerated(0.28) neutral(0.037) superfamily_EGF/Laminin EDIL3 10085 genome.wustl.edu 37 5 83549932 83549932 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005711.3 -1 reviewed p.D56Y 1.000 90 0% 81 9.9% 7 0% possibly_damaging(0.903) deleterious(0) deleterious(0.802) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin RASA1 5921 genome.wustl.edu 37 5 86659272 86659272 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002890.1 +1 reviewed p.D521Y 1.000 120 0% 78 34.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CETN3 1070 genome.wustl.edu 37 5 89701605 89701605 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004365.2 -1 reviewed p.R55 1.000 163 0% 131 29.8% 26 7.6% - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 CETN3 1070 genome.wustl.edu 37 5 89703584 89703584 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004365.2 -1 reviewed p.E29* 1.000 154 0% 141 26.2% 18 5.5% - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 GPR98 84059 genome.wustl.edu 37 5 89979966 89979966 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032119.3 +1 reviewed p.I2076 1.000 97 0% 62 32.3% 0 - - - - HMMPfam_Calx-beta,HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 89990192 89990192 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032119.3 +1 reviewed p.I2540S 0.995 223 0% 216 32.9% 0 - possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) NULL GPR98 84059 genome.wustl.edu 37 5 90050961 90050961 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032119.3 +1 reviewed p.E3847* 1.000 182 0% 105 22.9% 2 100% - - - NULL GPR98 84059 genome.wustl.edu 37 5 90085619 90085619 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032119.3 +1 reviewed p.L4665R 0.005 19 0% 24 25% 0 - benign(0.012) tolerated(0.3) neutral(0.029) NULL GPR98 84059 genome.wustl.edu 37 5 90106137 90106137 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032119.3 +1 reviewed p.T5020 0.000 54 0% 42 33.3% 0 - - - - HMMSmart_SM00237 KIAA0825 285600 genome.wustl.edu 37 5 93856130 93856130 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145678.1 -1 validated p.I265L 1.000 79 0% 49 24.5% 0 - possibly_damaging(0.889) tolerated(0.12) deleterious(0.610) NULL ANKRD32 84250 genome.wustl.edu 37 5 94030655 94030655 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032290.3 +1 validated p.F939V 1.000 175 0% 147 27.9% 5 60% benign(0.425) deleterious(0) deleterious(0.583) superfamily_ANK FAM81B 153643 genome.wustl.edu 37 5 94749818 94749818 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152548.2 +1 validated p.S154L 0.001 223 0% 208 11.5% 1 100% unknown(0) - - NULL FAM81B 153643 genome.wustl.edu 37 5 94772515 94772515 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152548.2 +1 validated p.L266 1.000 124 0% 107 26.2% 1 0% - - - NULL FAM81B 153643 genome.wustl.edu 37 5 94782326 94782326 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152548.2 +1 validated p.E318D 0.988 72 0% 56 46.4% 0 - possibly_damaging(0.549) tolerated(0.06) deleterious(0.509) NULL SPATA9 83890 genome.wustl.edu 37 5 95018514 95018514 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031952.3 -1 validated p.K15N 1.000 149 0% 145 29.7% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL RHOBTB3 22836 genome.wustl.edu 37 5 95091126 95091126 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014899.3 +1 validated p.A237S 1.000 238 0% 262 29% 0 - possibly_damaging(0.596) tolerated(0.69) neutral(0.208) NULL RHOBTB3 22836 genome.wustl.edu 37 5 95091302 95091302 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014899.3 +1 validated p.D295E 0.338 215 0% 239 38.5% 4 0% possibly_damaging(0.945) tolerated(1) neutral(0.390) HMMSmart_BTB ELL2 22936 genome.wustl.edu 37 5 95226756 95226756 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000508757 -1 known p.S122Y 0.001 180 0% 138 29% 0 - unknown(0) deleterious(0) - NULL ELL2 22936 genome.wustl.edu 37 5 95234143 95234143 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012081.5 -1 validated p.S442 0.202 296 0% 234 29.1% 6 16.6% - - - NULL ELL2 22936 genome.wustl.edu 37 5 95234393 95234393 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012081.5 -1 validated p.S359Y 0.866 245 0% 239 28% 4 0% possibly_damaging(0.513) deleterious(0.02) deleterious(0.555) NULL ELL2 22936 genome.wustl.edu 37 5 95236413 95236413 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012081.5 -1 validated p.A313D 0.993 142 0% 128 26.6% 6 0% benign(0.003) deleterious(0.03) neutral(0.364) NULL PCSK1 5122 genome.wustl.edu 37 5 95746599 95746599 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000439.4 -1 reviewed p.S325I 1.000 285 0% 242 13.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_S8,superfamily_Pept_S8_S53 PCSK1 5122 genome.wustl.edu 37 5 95761553 95761553 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000439.4 -1 reviewed p.D123N 1.000 155 0% 118 34.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Pept_S8_S53 ERAP2 64167 genome.wustl.edu 37 5 96215729 96215729 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130140.1 +1 validated p.D114Y 0.981 159 0% 162 29% 7 28.5% benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain ERAP2 64167 genome.wustl.edu 37 5 96215743 96215743 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130140.1 +1 validated p.T118 0.000 155 0% 155 30.3% 11 0% - - - HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain ERAP2 64167 genome.wustl.edu 37 5 96253260 96253260 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130140.1 +1 validated p.L945R 0.997 66 0% 56 23.2% 35 0% possibly_damaging(0.9) deleterious(0) deleterious(0.801) NULL SLCO4C1 353189 genome.wustl.edu 37 5 101593780 101593780 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_180991.4 -1 validated p.K380N 1.000 148 0% 131 34.4% 0 - possibly_damaging(0.768) tolerated(0.22) neutral(0.327) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO4C1 353189 genome.wustl.edu 37 5 101627074 101627074 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_180991.4 -1 validated p.E198* 0.000 106 0% 120 30.8% 0 - - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO4C1 353189 genome.wustl.edu 37 5 101627154 101627154 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_180991.4 -1 validated p.K171T 1.000 85 0% 66 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO6A1 133482 genome.wustl.edu 37 5 101834423 101834423 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173488.3 -1 validated p.S42 0.001 194 0% 150 28.7% 0 - - - - NULL PPIP5K2 23262 genome.wustl.edu 37 5 102484981 102484981 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015216.2 +1 provisional p.E290D 1.000 143 0% 102 26.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF56059 NUDT12 83594 genome.wustl.edu 37 5 102890543 102890543 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031438.2 -1 validated p.I326F 1.000 142 0% 96 33.3% 5 40% possibly_damaging(0.8) deleterious(0) deleterious(0.746) HMMPfam_NUDIX,superfamily_Nudix FBXL17 64839 genome.wustl.edu 37 5 107684213 107684213 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000496714 -1 known p.E67* 1.000 115 0% 92 31.5% 5 20% - - - superfamily_SSF52047 FER 2241 genome.wustl.edu 37 5 108373124 108373124 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005246.2 +1 reviewed p.D553G 1.000 56 0% 64 23.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like),superfamily_SH2 domain PJA2 9867 genome.wustl.edu 37 5 108679927 108679927 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014819.4 -1 validated p.F655L 1.000 51 0% 28 39.3% 19 36.8% possibly_damaging(0.94) tolerated(0.58) neutral(0.390) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 MAN2A1 4124 genome.wustl.edu 37 5 109110612 109110612 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002372.2 +1 reviewed p.K440N 1.000 90 0% 67 25.4% 3 0% benign(0.001) tolerated(0.5) neutral(0.010) HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl SLC25A46 91137 genome.wustl.edu 37 5 110096916 110096916 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138773.1 +1 provisional p.R231* 1.000 318 0.3% 293 29.7% 15 53.3% - - - superfamily_Mitochondrial carrier TSLP 85480 genome.wustl.edu 37 5 110409333 110409333 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033035.4 +1 reviewed p.S114L 0.000 196 0% 171 24% 0 - possibly_damaging(0.494) - - NULL WDR36 134430 genome.wustl.edu 37 5 110439612 110439612 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139281.2 +1 reviewed p.R298H 1.000 108 0% 122 29.5% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_Amine_DH_B_like,superfamily_WD40_like WDR36 134430 genome.wustl.edu 37 5 110441003 110441003 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139281.2 +1 reviewed p.G402E 1.000 128 0% 109 26.6% 1 0% probably_damaging(0.956) tolerated(0.09) deleterious(0.696) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 CAMK4 814 genome.wustl.edu 37 5 110819758 110819758 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001744.3 +1 reviewed p.L339P 0.989 64 0% 75 25.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL APC 324 genome.wustl.edu 37 5 112111406 112111406 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000038.4 +1 reviewed p.R168I 1.000 138 0% 119 32.8% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat APC 324 genome.wustl.edu 37 5 112177901 112177901 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000038.4 +1 reviewed p.R2204* 0.999 275 0% 277 31% 8 62.5% - - - NULL APC 324 genome.wustl.edu 37 5 112178365 112178365 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000038.4 +1 reviewed p.S2358 0.999 244 0% 272 30.5% 5 0% - - - HMMPfam_APC_basic ZRSR1 7310 genome.wustl.edu 37 5 112228098 112228098 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000391338 +1 known p.N254 0.986 219 0% 245 32.2% 3 0% - - - HMMSmart_RRM,superfamily_SSF54928 DCP2 167227 genome.wustl.edu 37 5 112343727 112343727 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000513585 +1 known p.E327K 1.000 136 0% 136 25% 4 50% - - - NULL MCC 4163 genome.wustl.edu 37 5 112458462 112458462 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085377.1 -1 reviewed p.E316K 1.000 79 0% 88 38.6% 1 0% benign(0.001) deleterious(0.04) neutral(0.349) NULL MCC 4163 genome.wustl.edu 37 5 112479008 112479008 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085377.1 -1 reviewed p.T264M 1.000 103 0% 92 31.5% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL YTHDC2 64848 genome.wustl.edu 37 5 112862429 112862429 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022828.3 +1 validated p.E208* 1.000 151 0% 130 29.2% 0 - - - - HMMSmart_DEXDc,superfamily_SSF52540 YTHDC2 64848 genome.wustl.edu 37 5 112874797 112874797 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022828.3 +1 validated p.E377* 1.000 56 0% 44 18.2% 0 - - - - HMMSmart_DEXDc YTHDC2 64848 genome.wustl.edu 37 5 112891750 112891750 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022828.3 +1 validated p.K712T 1.000 55 0% 38 34.2% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 YTHDC2 64848 genome.wustl.edu 37 5 112896818 112896818 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022828.3 +1 validated p.S753I 1.000 256 0% 137 23.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 YTHDC2 64848 genome.wustl.edu 37 5 112920051 112920051 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022828.3 +1 validated p.D1234Y 1.000 258 0% 161 31.1% 2 0% benign(0.005) deleterious(0.03) neutral(0.364) NULL PGGT1B 5229 genome.wustl.edu 37 5 114598436 114598436 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005023.3 -1 validated p.E38V 1.000 19 0% 17 35.3% 5 40% benign(0.11) tolerated(0.2) neutral(0.058) superfamily_Terpenoid cyclases/Protein prenyltransferases CCDC112 153733 genome.wustl.edu 37 5 114607050 114607050 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040440.2 -1 validated p.K398Q 0.918 378 0% 330 30.3% 9 88.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TICAM2 353376 genome.wustl.edu 37 5 114916256 114916256 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021649.5 -1 validated p.F233C 0.000 60 0% 57 33.3% 5 20% benign(0.394) deleterious(0) deleterious(0.571) NULL TMED7 51014 genome.wustl.edu 37 5 114956272 114956272 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181836.5 -1 validated p.A100T 1.000 185 0% 150 38% 51 33.3% probably_damaging(0.996) tolerated(0.12) deleterious(0.722) HMMPfam_EMP24_GP25L,superfamily_SSF101576 CDO1 1036 genome.wustl.edu 37 5 115146946 115146946 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001801.2 -1 validated p.T105 0.019 545 0% 411 29% 2 0% - - - HMMPfam_CDO_I,superfamily_RmlC-like cupins AQPEP 206338 genome.wustl.edu 37 5 115346437 115346437 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173800.4 +1 validated e14-1 1.000 84 0% 67 25.4% 0 - - - - - AQPEP 206338 genome.wustl.edu 37 5 115348087 115348087 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173800.4 +1 validated p.R755I 1.000 160 0% 148 29.7% 0 - benign(0.195) tolerated(0.14) neutral(0.268) NULL DMXL1 1657 genome.wustl.edu 37 5 118485422 118485422 + Silent SNP C C T rs142149872 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005509.4 +1 validated p.F1300 0.083 160 0% 150 28.7% 0 - - - - NULL DMXL1 1657 genome.wustl.edu 37 5 118487671 118487671 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005509.4 +1 validated p.R1548* 1.000 298 0% 239 30.5% 2 0% - - - NULL DMXL1 1657 genome.wustl.edu 37 5 118500367 118500367 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005509.4 +1 validated p.E1623A 1.000 136 0% 109 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DMXL1 1657 genome.wustl.edu 37 5 118529625 118529625 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005509.4 +1 validated p.D2473N 0.963 159 0% 172 30.2% 3 100% benign(0.004) tolerated(0.34) neutral(0.023) superfamily_WD40 repeat-like FAM170A 340069 genome.wustl.edu 37 5 118965471 118965471 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182761.3 +1 validated p.R3Q 0.094 320 0% 259 14.3% 0 - benign(0.025) tolerated(0.23) neutral(0.043) NULL PRR16 51334 genome.wustl.edu 37 5 120022105 120022105 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016644.1 +1 provisional p.R183W 0.963 185 0% 224 28.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FTMT 94033 genome.wustl.edu 37 5 121188134 121188134 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177478.1 +1 validated p.A159V 1.000 122 0% 101 26.7% 0 - possibly_damaging(0.433) deleterious(0.01) deleterious(0.546) HMMPfam_Ferritin,superfamily_Ferritin/RR_like SRFBP1 153443 genome.wustl.edu 37 5 121356184 121356184 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152546.2 +1 validated p.E252K 0.766 312 0% 295 33.6% 9 100% benign(0.235) tolerated(0.25) neutral(0.060) NULL CEP120 153241 genome.wustl.edu 37 5 122708447 122708447 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153223.3 -1 reviewed p.K793T 1.000 90 0% 105 33.3% 7 14.2% possibly_damaging(0.901) tolerated(0.18) neutral(0.413) NULL ZNF608 57507 genome.wustl.edu 37 5 123979265 123979265 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020747.2 -1 validated p.E1412G 1.000 79 0% 79 31.6% 22 40.9% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL ZNF608 57507 genome.wustl.edu 37 5 123980160 123980160 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020747.2 -1 validated p.H1300 0.957 265 0% 263 28.9% 15 46.6% - - - NULL GRAMD3 65983 genome.wustl.edu 37 5 125819157 125819157 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023927.2 +1 validated p.D246E 1.000 143 0% 111 25.2% 10 40% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) NULL LMNB1 4001 genome.wustl.edu 37 5 126171927 126171927 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005573.2 +1 reviewed p.A578T 0.975 163 0% 217 35% 70 64.2% benign(0.005) tolerated(0.7) neutral(0.002) NULL MEGF10 84466 genome.wustl.edu 37 5 126676233 126676233 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032446.2 +1 validated p.R77Q 1.000 281 0% 242 24% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_EMI MEGF10 84466 genome.wustl.edu 37 5 126781360 126781360 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032446.2 +1 validated p.V901 1.000 144 0% 107 22.4% 0 - - - - NULL PRRC1 133619 genome.wustl.edu 37 5 126874763 126874763 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130809.3 +1 validated p.R318Q 0.045 171 0% 137 31.4% 31 45.1% possibly_damaging(0.845) tolerated(0.2) neutral(0.373) superfamily_Maf/Ham1 FBN2 2201 genome.wustl.edu 37 5 127641206 127641206 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001999.3 -1 reviewed p.V1891I 0.988 141 0% 107 25.2% 4 50% benign(0.008) tolerated(0.71) neutral(0.002) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin FBN2 2201 genome.wustl.edu 37 5 127642872 127642872 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001999.3 -1 reviewed p.N1793D 1.000 251 0% 128 33.6% 9 77.7% benign(0.046) tolerated(0.39) neutral(0.018) superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases FBN2 2201 genome.wustl.edu 37 5 127681270 127681270 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001999.3 -1 reviewed p.R999H 1.000 203 0% 204 28.4% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases SLC27A6 28965 genome.wustl.edu 37 5 128359345 128359345 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017372.1 +1 reviewed p.D399 0.999 105 0% 92 22.8% 0 - - - - HMMPfam_AMP-binding,superfamily_SSF56801 CHSY3 337876 genome.wustl.edu 37 5 129520330 129520330 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175856.4 +1 validated p.V499I 0.963 110 0.9% 100 31% 4 0% benign(0.228) tolerated(0.88) neutral(0.022) HMMPfam_CHGN HINT1 3094 genome.wustl.edu 37 5 130495001 130495001 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_024610.1 -1 validated NULL 1.000 31 0% 32 31.2% 220 45% - - - - FNIP1 96459 genome.wustl.edu 37 5 131007751 131007751 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133372.2 -1 validated p.E796* 1.000 455 0% 381 28.9% 1 0% - - - NULL CCNI2 645121 genome.wustl.edu 37 5 132085048 132085048 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039780.2 +1 provisional p.E189 0.000 71 0% 46 39.1% 1 0% - - - HMMSmart_CYCLIN,HMMPfam_Cyclin_N,superfamily_Cyclin_like HSPA4 3308 genome.wustl.edu 37 5 132424239 132424239 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002154.3 +1 validated p.A377T 1.000 164 0% 150 24.7% 126 41.2% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_HSP70,superfamily_SSF53067 FSTL4 23105 genome.wustl.edu 37 5 132569152 132569152 + Silent SNP G G A rs190908572 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015082.1 -1 validated p.S324 0.595 68 0% 69 30.4% 8 25% - - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin VDAC1 7416 genome.wustl.edu 37 5 133316577 133316577 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003374.1 -1 provisional p.D132N 1.000 136 0% 118 62.7% 319 88.4% probably_damaging(0.985) tolerated(0.11) deleterious(0.704) HMMPfam_Porin_3 VDAC1 7416 genome.wustl.edu 37 5 133326731 133326731 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003374.1 -1 provisional p.D78N 1.000 404 0% 377 30.8% 282 41.1% probably_damaging(0.976) tolerated(0.09) deleterious(0.714) HMMPfam_Porin_3 CDKL3 51265 genome.wustl.edu 37 5 133640227 133640227 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113575.1 -1 reviewed p.R497Q 0.975 62 0% 47 40.4% 0 - benign(0.038) deleterious(0.01) neutral(0.408) NULL PHF15 23338 genome.wustl.edu 37 5 133909367 133909367 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015288.4 +1 provisional p.R489 0.962 62 0% 64 21.9% 9 33.3% - - - NULL SEC24A 10802 genome.wustl.edu 37 5 134028296 134028296 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000513123 +1 known p.F122C 0.991 110 0% 75 34.7% 9 66.6% - - - HMMPfam_Sec23_trunk,superfamily_vWA-like DDX46 9879 genome.wustl.edu 37 5 134106675 134106675 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014829.2 +1 reviewed p.E145* 1.000 120 0% 115 37.4% 11 0% - - - NULL TGFBI 7045 genome.wustl.edu 37 5 135385184 135385184 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000504205 +1 known p.R47H 0.000 55 0% 52 36.5% 63 0% unknown(0) - - NULL SMAD5 4090 genome.wustl.edu 37 5 135489807 135489807 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398807 +1 known p.E120* 1.000 68 0% 80 28.7% 3 0% - - - HMMPfam_MH1,HMMSmart_SM00523,superfamily_SMAD MH1 domain SMAD5 4090 genome.wustl.edu 37 5 135513092 135513092 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398807 +1 known p.H440R 1.000 49 2% 48 27.1% 4 25% benign(0.222) deleterious(0) neutral(0.467) HMMPfam_MH2,HMMSmart_SM00524,superfamily_SMAD/FHA domain TRPC7 57113 genome.wustl.edu 37 5 135610523 135610523 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000378459 -1 known p.R261C 1.000 41 0% 40 17.5% 0 - - - - NULL KLHL3 26249 genome.wustl.edu 37 5 137045539 137045539 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017415.2 -1 validated p.Q47 1.000 110 0% 94 22.3% 0 - - - - superfamily_POZ domain,HMMPfam_BTB PKD2L2 27039 genome.wustl.edu 37 5 137226177 137226177 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014386.2 +1 validated p.S13 0.000 151 0% 140 32.1% 0 - - - - NULL BRD8 10902 genome.wustl.edu 37 5 137502262 137502262 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139199.1 -1 reviewed p.A314 1.000 31 0% 29 44.8% 20 40% - - - NULL KIF20A 10112 genome.wustl.edu 37 5 137520075 137520075 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005733.2 +1 validated p.F500L 1.000 327 0% 302 29.1% 33 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 CDC23 8697 genome.wustl.edu 37 5 137542299 137542299 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000505120 -1 known p.H102R 0.714 124 0% 104 31.7% 13 61.5% possibly_damaging(0.602) deleterious(0) deleterious(0.653) HMMPfam_APC8 KDM3B 51780 genome.wustl.edu 37 5 137727661 137727661 + Silent SNP G G A rs187275789 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016604.3 +1 validated p.P780 0.997 334 0% 384 21.9% 7 71.4% - - - NULL KDM3B 51780 genome.wustl.edu 37 5 137735651 137735651 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016604.3 +1 validated p.F1050S 1.000 184 0% 190 26.8% 23 86.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDM3B 51780 genome.wustl.edu 37 5 137761113 137761113 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016604.3 +1 validated p.S1418L 1.000 75 0% 91 36.3% 33 30.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Clavaminate synthase-like KDM3B 51780 genome.wustl.edu 37 5 137763753 137763753 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016604.3 +1 validated p.I1577 0.397 378 0% 478 28.9% 32 18.7% - - - HMMSmart_SM00558,superfamily_Clavaminate synthase-like ETF1 2107 genome.wustl.edu 37 5 137853315 137853315 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004730.2 -1 validated p.D113Y 1.000 163 0% 151 37.7% 74 44.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_eRF1_1,superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1 HSPA9 3313 genome.wustl.edu 37 5 137902767 137902767 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004134.6 -1 reviewed p.N268H 1.000 95 0% 93 21.5% 143 41.9% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_HSP70,superfamily_SSF53067 CTNNA1 1495 genome.wustl.edu 37 5 138145786 138145786 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001903.2 +1 validated p.R121* 1.000 146 0% 94 35.1% 24 0% - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin CTNNA1 1495 genome.wustl.edu 37 5 138223278 138223278 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001903.2 +1 validated p.E415* 1.000 273 0% 204 27.5% 31 6.4% - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin SIL1 64374 genome.wustl.edu 37 5 138456818 138456818 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037633.1 -1 reviewed p.E50D 0.250 137 0% 116 32.8% 48 41.6% possibly_damaging(0.892) tolerated(0.4) neutral(0.367) superfamily_ARM-type_fold PSD2 84249 genome.wustl.edu 37 5 139201585 139201585 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032289.2 +1 provisional p.S402L 0.980 113 0% 116 14.7% 0 - benign(0.109) deleterious(0) neutral(0.453) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain PSD2 84249 genome.wustl.edu 37 5 139215321 139215321 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032289.2 +1 provisional p.S458F 1.000 385 0% 271 28.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain NRG2 9542 genome.wustl.edu 37 5 139231369 139231369 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013982.2 -1 reviewed p.S539Y 0.999 56 0% 40 45% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Neuregulin NRG2 9542 genome.wustl.edu 37 5 139232023 139232023 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013982.2 -1 reviewed p.S521T 1.000 76 0% 89 36% 0 - probably_damaging(0.973) tolerated(0.23) neutral(0.456) HMMPfam_Neuregulin ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139903697 139903697 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020690.4 +1 reviewed p.K1455T 1.000 94 0% 84 28.6% 9 0% benign(0.224) deleterious(0) neutral(0.467) NULL DND1 373863 genome.wustl.edu 37 5 140051176 140051176 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194249.1 -1 provisional p.A255V 0.992 17 0% 18 44.4% 21 66.6% benign(0.188) deleterious(0.01) neutral(0.423) NULL ENSG00000249821 0 genome.wustl.edu 37 5 140165631 140165631 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000508944 -1 known NULL 0.001 14 0% 18 50% 1 100% - - - - PCDHA1 56147 genome.wustl.edu 37 5 140166575 140166575 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018900.2 +1 reviewed p.D234N 0.985 103 0% 88 31.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHA2 56146 genome.wustl.edu 37 5 140175140 140175140 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018905.2 +1 reviewed p.G197 0.000 124 0% 93 24.7% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA4 56144 genome.wustl.edu 37 5 140187605 140187605 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018907.2 +1 reviewed p.V278A 0.000 140 0% 140 32.9% 9 55.5% benign(0) tolerated(0.46) neutral(0.012) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140201924 140201924 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018908.2 +1 reviewed p.T188 0.000 91 0% 63 23.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140202603 140202603 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018908.2 +1 reviewed p.E415K 1.000 89 0% 93 30.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140207946 140207946 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018909.2 +1 reviewed p.I90 0.992 131 0% 142 26.8% 6 0% - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140207947 140207947 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018909.2 +1 reviewed p.D91N 1.000 130 0% 139 31.7% 6 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA7 56141 genome.wustl.edu 37 5 140215065 140215065 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018910.2 +1 reviewed p.G366D 0.975 113 0% 107 14% 2 50% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA7 56141 genome.wustl.edu 37 5 140215216 140215216 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018910.2 +1 reviewed p.E416 0.798 118 0% 84 29.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA7 56141 genome.wustl.edu 37 5 140215580 140215580 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018910.2 +1 reviewed p.R538C 0.995 51 0% 45 28.9% 0 - possibly_damaging(0.485) deleterious(0) deleterious(0.606) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140221381 140221381 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018911.2 +1 reviewed p.D159N 1.000 103 0% 102 30.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140222038 140222038 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018911.2 +1 reviewed p.D378N 0.999 192 0% 178 32% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140223159 140223159 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018911.2 +1 reviewed p.S751 0.001 33 0% 37 21.6% 0 - - - - NULL PCDHA9 9752 genome.wustl.edu 37 5 140228494 140228494 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031857.1 +1 reviewed p.K138N 0.008 83 1.2% 98 38.8% 0 - benign(0.055) tolerated(0.3) neutral(0.032) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA10 56139 genome.wustl.edu 37 5 140237695 140237695 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018901.2 +1 reviewed p.E688K 0.003 25 0% 19 36.8% 0 - benign(0.005) tolerated(0.07) neutral(0.319) NULL PCDHA12 56137 genome.wustl.edu 37 5 140255677 140255677 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018903.2 +1 reviewed p.K207T 0.000 87 0% 59 39% 0 - benign(0) tolerated(0.53) neutral(0.007) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140256291 140256291 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018903.2 +1 reviewed p.A412T 0.000 114 0% 107 18.7% 1 0% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC1 56135 genome.wustl.edu 37 5 140306804 140306804 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018898.3 +1 reviewed p.K109 0.008 59 0% 44 34.1% 0 - - - - HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC1 56135 genome.wustl.edu 37 5 140308058 140308058 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018898.3 +1 reviewed p.G527 1.000 208 0% 171 35.7% 2 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140346885 140346885 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018899.5 +1 reviewed p.G178 0.013 23 0% 21 38.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140347060 140347060 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018899.5 +1 reviewed p.R237C 0.731 54 0% 30 13.3% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB2 56133 genome.wustl.edu 37 5 140475208 140475208 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018936.2 +1 reviewed p.E278 0.993 184 0% 153 28.1% 11 81.8% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB3 56132 genome.wustl.edu 37 5 140481372 140481372 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018937.2 +1 reviewed p.R380I 0.000 139 0.7% 93 35.5% 2 50% possibly_damaging(0.472) deleterious(0) deleterious(0.601) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB4 56131 genome.wustl.edu 37 5 140502125 140502125 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018938.2 +1 reviewed p.R182Q 0.002 142 0% 102 31.4% 0 - benign(0.135) tolerated(0.5) neutral(0.021) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB5 26167 genome.wustl.edu 37 5 140515261 140515261 + Missense_Mutation SNP G G A rs185019496 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015669.2 +1 reviewed p.G82D 1.000 204 0% 167 35.9% 1 0% probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB5 26167 genome.wustl.edu 37 5 140516733 140516733 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015669.2 +1 reviewed p.E573K 0.997 62 0% 71 22.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Cadherin PCDHB6 56130 genome.wustl.edu 37 5 140530194 140530194 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018939.2 +1 reviewed p.S119F 0.000 220 0% 224 31.2% 0 - benign(0.134) deleterious(0) neutral(0.456) HMMSmart_CA,superfamily_Cadherin PCDHB7 56129 genome.wustl.edu 37 5 140554369 140554369 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018940.2 +1 reviewed p.P651 0.991 48 0% 32 28.1% 3 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB8 56128 genome.wustl.edu 37 5 140558500 140558500 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019120.2 +1 reviewed p.V295 0.007 306 0% 236 35.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB8 56128 genome.wustl.edu 37 5 140558680 140558680 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019120.2 +1 reviewed p.S355 0.000 375 0% 287 29.3% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin PCDHB16 57717 genome.wustl.edu 37 5 140563448 140563448 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020957.1 +1 reviewed p.T438 0.000 234 0% 170 33.5% 2 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140580724 140580724 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018931.2 +1 reviewed p.F459 0.000 334 0% 287 31% 1 0% - - - HMMPfam_Cadherin,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140589344 140589344 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018932.3 +1 reviewed p.R289C 0.019 265 0.4% 202 19.3% 0 - benign(0.006) deleterious(0.04) neutral(0.349) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB13 56123 genome.wustl.edu 37 5 140594388 140594388 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018933.2 +1 reviewed p.I231 0.000 375 0% 288 24.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHB13 56123 genome.wustl.edu 37 5 140594620 140594620 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018933.2 +1 reviewed p.D309N 0.980 503 0.2% 370 28.1% 0 - possibly_damaging(0.602) deleterious(0.05) deleterious(0.554) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB18 54660 genome.wustl.edu 37 5 140615592 140615592 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000274705 +1 known p.S436L 1.000 241 0% 192 32.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB15 56121 genome.wustl.edu 37 5 140627433 140627433 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018935.2 +1 reviewed p.D763Y 0.992 134 0% 100 29% 0 - possibly_damaging(0.691) deleterious(0) deleterious(0.692) NULL SLC25A2 83884 genome.wustl.edu 37 5 140682660 140682660 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031947.2 -1 reviewed p.R258I 0.844 154 0% 135 33.3% 0 - possibly_damaging(0.937) deleterious(0) deleterious(0.828) superfamily_Mitoch_carrier,HMMPfam_Mito_carr PCDHGA1 56114 genome.wustl.edu 37 5 140712378 140712378 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018912.2 +1 reviewed p.I709 0.000 147 0% 100 34% 0 - - - - NULL PCDHGA2 56113 genome.wustl.edu 37 5 140718670 140718670 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018915.2 +1 reviewed p.F44 0.983 134 0% 128 30.5% 1 100% - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA2 56113 genome.wustl.edu 37 5 140720011 140720011 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018915.2 +1 reviewed p.F491 0.001 245 0.4% 242 31.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140730136 140730136 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018922.2 +1 reviewed p.F103 0.658 141 0% 102 32.4% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140730930 140730930 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018922.2 +1 reviewed p.R368Q 0.000 45 0% 76 27.6% 0 - possibly_damaging(0.507) tolerated(1) neutral(0.170) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140731944 140731944 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018922.2 +1 reviewed p.A706V 0.016 147 0% 106 34.9% 0 - benign(0.156) tolerated(0.35) neutral(0.035) NULL PCDHGA4 56111 genome.wustl.edu 37 5 140736368 140736368 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018917.2 +1 reviewed p.A534V 1.000 218 0% 218 32.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140744800 140744800 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018918.2 +1 reviewed p.I301 0.381 60 0% 68 14.7% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140744872 140744872 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018918.2 +1 reviewed p.G325 0.131 62 0% 64 26.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140750657 140750657 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018924.2 +1 reviewed p.V232 0.000 159 0% 148 24.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140750877 140750877 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018924.2 +1 reviewed p.E306* 0.000 221 0% 175 26.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA6 56109 genome.wustl.edu 37 5 140753765 140753765 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018919.2 +1 reviewed p.L39M 0.801 30 0% 25 24% 0 - benign(0.003) tolerated(1) - HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA6 56109 genome.wustl.edu 37 5 140755710 140755710 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018919.2 +1 reviewed p.S687L 0.015 112 0% 104 27.9% 0 - benign(0.041) deleterious(0.02) neutral(0.386) NULL PCDHGA7 56108 genome.wustl.edu 37 5 140764119 140764119 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018920.2 +1 reviewed p.F551 0.012 117 0% 87 21.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA7 56108 genome.wustl.edu 37 5 140764553 140764553 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018920.2 +1 reviewed p.A696V 1.000 56 0% 47 31.9% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PCDHGA7 56108 genome.wustl.edu 37 5 140764835 140764835 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018920.2 +1 reviewed p.S790Y 0.756 98 0% 61 24.6% 1 0% benign(0.164) deleterious(0.04) neutral(0.364) NULL PCDHGB4 8641 genome.wustl.edu 37 5 140767650 140767650 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003736.2 +1 reviewed p.R67C 1.000 73 0% 78 20.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140767820 140767820 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003736.2 +1 reviewed p.I123 0.061 88 0% 91 25.3% 0 - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140768635 140768635 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003736.2 +1 reviewed p.S395Y 0.039 131 0% 122 38.5% 3 0% benign(0.041) deleterious(0.01) neutral(0.408) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140773756 140773756 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032088.1 +1 reviewed p.A459V 1.000 35 0% 32 37.5% 0 - benign(0.001) tolerated(1) - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140784398 140784398 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018921.2 +1 reviewed p.R627C 1.000 106 0% 77 36.4% 4 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB6 56100 genome.wustl.edu 37 5 140789107 140789107 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018926.2 +1 reviewed p.N446 1.000 93 0% 52 25% 2 0% - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140793470 140793470 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018913.2 +1 reviewed p.A243V 0.825 21 0% 24 37.5% 0 - benign(0.006) tolerated(0.12) neutral(0.261) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140794237 140794237 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018913.2 +1 reviewed p.T499A 0.762 146 0.7% 121 25.6% 2 50% benign(0.063) tolerated(0.16) neutral(0.064) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140802586 140802586 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018914.2 +1 reviewed p.D598Y 1.000 107 0% 93 25.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140802648 140802648 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018914.2 +1 reviewed p.F618 0.599 63 0% 61 32.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140803060 140803060 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018914.2 +1 reviewed p.H756N 0.998 68 0% 57 24.6% 0 - possibly_damaging(0.904) deleterious(0.02) deleterious(0.742) NULL PCDHGA12 26025 genome.wustl.edu 37 5 140810564 140810564 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003735.2 +1 reviewed p.R80C 0.015 100 0% 94 37.2% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140811763 140811763 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003735.2 +1 reviewed p.P479 0.006 126 0% 107 24.3% 3 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC4 56098 genome.wustl.edu 37 5 140866394 140866394 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018928.2 +1 reviewed p.R552C 0.884 280 0% 174 33.9% 1 100% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC5 56097 genome.wustl.edu 37 5 140869675 140869675 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018929.2 +1 reviewed p.R290W 0.003 481 0% 310 24.5% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC5 56097 genome.wustl.edu 37 5 140870615 140870615 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018929.2 +1 reviewed p.A603V 1.000 137 0.7% 99 34.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC5 56097 genome.wustl.edu 37 5 140870771 140870771 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018929.2 +1 reviewed p.S655* 0.324 212 0% 111 31.5% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC5 56097 genome.wustl.edu 37 5 140871113 140871113 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018929.2 +1 reviewed p.S769L 0.932 131 0% 64 23.4% 0 - possibly_damaging(0.824) tolerated(0.13) deleterious(0.565) NULL HDAC3 8841 genome.wustl.edu 37 5 141009646 141009646 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003883.3 -1 reviewed p.A110T 0.998 222 0% 181 31.5% 40 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase ARHGAP26 23092 genome.wustl.edu 37 5 142513550 142513550 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015071.4 +1 reviewed p.D573N 0.990 412 0% 302 31.8% 15 66.6% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) superfamily_GTPase activation domain GAP NR3C1 2908 genome.wustl.edu 37 5 142680092 142680092 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001024094.1 -1 reviewed p.R570W 0.996 585 0% 539 31.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor NR3C1 2908 genome.wustl.edu 37 5 142779683 142779683 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001024094.1 -1 reviewed p.S241L 0.000 155 0% 123 31.7% 2 0% benign(0) tolerated(0.94) - HMMPfam_GCR LARS 51520 genome.wustl.edu 37 5 145509639 145509639 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020117.9 -1 reviewed p.L857R 1.000 170 0% 156 28.8% 49 38.7% benign(0.05) deleterious(0) neutral(0.448) superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1 LARS 51520 genome.wustl.edu 37 5 145543886 145543886 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020117.9 -1 reviewed p.R194I 0.999 329 0% 279 35.1% 8 25% benign(0.281) tolerated(0.18) neutral(0.142) superfamily_Nucleotidylyl transferase LARS 51520 genome.wustl.edu 37 5 145551522 145551522 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020117.9 -1 reviewed p.K82T 0.995 246 0% 181 33.1% 10 60% possibly_damaging(0.863) tolerated(0.08) deleterious(0.633) superfamily_Nucleotidylyl transferase POU4F3 5459 genome.wustl.edu 37 5 145719162 145719162 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002700.2 +1 reviewed p.E58K 1.000 152 0% 164 32.3% 0 - possibly_damaging(0.626) deleterious(0) deleterious(0.662) NULL PPP2R2B 5521 genome.wustl.edu 37 5 145972564 145972564 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181676.2 -1 reviewed p.K344T 1.000 588 0% 497 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like PPP2R2B 5521 genome.wustl.edu 37 5 145979872 145979872 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000512984 -1 known p.A23V 1.000 210 0.5% 152 29.6% 0 - - - - NULL PPP2R2B 5521 genome.wustl.edu 37 5 146077636 146077636 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181676.2 -1 reviewed p.F83 1.000 206 0.5% 151 35.8% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_PR55_1,HMMPfam_PP2A_B_N DPYSL3 1809 genome.wustl.edu 37 5 146773637 146773637 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001387.2 -1 validated p.A558 0.542 72 0% 66 39.4% 30 6.6% - - - NULL DPYSL3 1809 genome.wustl.edu 37 5 146778727 146778727 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001387.2 -1 validated p.R400I 1.000 218 0% 167 24% 28 0% possibly_damaging(0.697) tolerated(0.06) deleterious(0.573) HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 JAKMIP2 9832 genome.wustl.edu 37 5 147024553 147024553 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014790.3 -1 provisional p.R315C 1.000 159 0% 137 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL JAKMIP2 9832 genome.wustl.edu 37 5 147028027 147028027 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014790.3 -1 provisional p.R283I 1.000 158 0% 111 31.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPINK1 6690 genome.wustl.edu 37 5 147211104 147211104 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003122.3 -1 reviewed p.A13T 0.511 157 0% 119 24.4% 20 0% benign(0.316) tolerated(0.07) neutral(0.418) NULL FBXO38 81545 genome.wustl.edu 37 5 147774456 147774456 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_205836.1 +1 validated p.C39* 1.000 248 0% 214 27.6% 3 0% - - - HMMPfam_F-box,superfamily_F-box domain HTR4 3360 genome.wustl.edu 37 5 147902800 147902800 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040173.2 -1 reviewed p.L155I 1.000 201 0% 166 28.3% 0 - benign(0.33) tolerated(0.87) neutral(0.104) HMMPfam_7tm_1,superfamily_SSF81321 SH3TC2 79628 genome.wustl.edu 37 5 148386693 148386693 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000502274 -1 known p.Q4 0.000 85 0% 88 10.2% 0 - - - - NULL SH3TC2 79628 genome.wustl.edu 37 5 148411122 148411122 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024577.3 -1 reviewed p.R377Q 1.000 186 0% 173 28.3% 0 - benign(0.006) tolerated(0.23) neutral(0.042) NULL ABLIM3 22885 genome.wustl.edu 37 5 148577948 148577948 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014945.2 +1 validated p.F106 0.800 97 0% 60 26.7% 0 - - - - HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ABLIM3 22885 genome.wustl.edu 37 5 148622095 148622095 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014945.2 +1 validated p.R449W 0.964 152 0% 122 27.9% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PCYOX1L 78991 genome.wustl.edu 37 5 148746943 148746943 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024028.3 +1 validated p.A235T 0.963 58 0% 57 45.6% 13 69.2% benign(0.009) tolerated(0.35) neutral(0.021) HMMPfam_Prenylcys_lyase,superfamily_FAD/NAD(P)-binding domain CSNK1A1 1452 genome.wustl.edu 37 5 148897434 148897434 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001025105.1 -1 validated p.E155* 1.000 29 0% 35 22.9% 1 0% - - - superfamily_Kinase_like,HMMPfam_Pkinase ARHGEF37 389337 genome.wustl.edu 37 5 148989227 148989227 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001669.2 +1 validated p.R143W 0.975 42 0% 58 39.7% 3 66.6% possibly_damaging(0.819) deleterious(0.02) deleterious(0.693) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ARSI 340075 genome.wustl.edu 37 5 149677186 149677186 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012301.2 -1 validated p.G434D 0.997 33 0% 15 26.7% 10 0% benign(0.075) tolerated(0.28) neutral(0.036) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like TCOF1 6949 genome.wustl.edu 37 5 149747466 149747466 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135243.1 +1 reviewed p.K122Q 0.929 41 0% 54 33.3% 12 33.3% probably_damaging(0.998) tolerated(0.14) deleterious(0.724) NULL CCDC69 26112 genome.wustl.edu 37 5 150581184 150581184 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015621.2 -1 validated p.L64F 0.998 100 0% 65 38.5% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL SLC36A3 285641 genome.wustl.edu 37 5 150664231 150664231 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145017.1 -1 validated p.W291C 1.000 112 0% 109 22.9% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Aa_trans SLC36A2 153201 genome.wustl.edu 37 5 150701677 150701677 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181776.2 -1 validated p.I370 0.605 120 0% 109 28.4% 0 - - - - HMMPfam_Aa_trans FAT2 2196 genome.wustl.edu 37 5 150901228 150901228 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001447.2 -1 reviewed p.E3642D 1.000 80 0% 77 29.9% 8 37.5% probably_damaging(0.999) tolerated(0.43) deleterious(0.504) superfamily_Concanavalin A-like lectins/glucanases FAT2 2196 genome.wustl.edu 37 5 150946206 150946206 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001447.2 -1 reviewed p.F763V 1.000 101 0% 69 30.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SPARC 6678 genome.wustl.edu 37 5 151049227 151049227 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003118.2 -1 provisional p.K150R 1.000 76 0% 53 30.2% 1284 0% possibly_damaging(0.783) tolerated(0.15) deleterious(0.534) superfamily_Kazal-type serine protease inhibitors G3BP1 10146 genome.wustl.edu 37 5 151169966 151169966 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005754.2 +1 reviewed e2+1 1.000 96 0% 93 37.6% 0 - - - - - G3BP1 10146 genome.wustl.edu 37 5 151183555 151183555 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005754.2 +1 reviewed p.R435Q 1.000 92 0% 94 34% 118 10.1% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_RNA-binding domain RBD GRIA1 2890 genome.wustl.edu 37 5 153026596 153026596 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000827.3 +1 reviewed p.T110M 1.000 419 0% 360 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIA1 2890 genome.wustl.edu 37 5 153181968 153181968 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000827.3 +1 reviewed p.L813R 1.000 157 0% 199 30.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lig_chan FAM114A2 10827 genome.wustl.edu 37 5 153390872 153390872 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018691.2 -1 validated p.D308Y 1.000 233 0% 186 26.9% 5 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL FAM114A2 10827 genome.wustl.edu 37 5 153413922 153413922 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018691.2 -1 validated p.D76Y 0.003 133 0% 123 32.5% 8 12.5% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL FAM114A2 10827 genome.wustl.edu 37 5 153414359 153414359 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018691.2 -1 validated p.R52I 1.000 309 0% 250 24.8% 5 0% probably_damaging(0.99) tolerated(0.07) deleterious(0.760) NULL HAND1 9421 genome.wustl.edu 37 5 153857264 153857264 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004821.2 -1 reviewed p.K102T 1.000 45 0% 27 18.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic LARP1 23367 genome.wustl.edu 37 5 154173258 154173258 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015315.3 +1 validated p.I204 0.019 205 4.4% 155 11.6% 18 16.6% - - - NULL GEMIN5 25929 genome.wustl.edu 37 5 154296726 154296726 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015465.3 -1 validated p.F563V 1.000 107 0% 85 38.8% 4 25% possibly_damaging(0.856) deleterious(0.04) deleterious(0.679) HMMSmart_SM00320,superfamily_WD40 repeat-like KIF4B 285643 genome.wustl.edu 37 5 154393628 154393628 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099293.1 +1 provisional p.A70V 0.205 122 0% 121 42.1% 0 - benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KIF4B 285643 genome.wustl.edu 37 5 154393870 154393870 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099293.1 +1 provisional p.L151I 0.981 316 0% 290 28.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KIF4B 285643 genome.wustl.edu 37 5 154395564 154395564 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099293.1 +1 provisional p.K715N 1.000 189 0% 200 15.5% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL KIF4B 285643 genome.wustl.edu 37 5 154395757 154395757 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099293.1 +1 provisional p.Q780K 1.000 113 0% 107 30.8% 0 - possibly_damaging(0.637) tolerated(0.32) neutral(0.247) NULL KIF4B 285643 genome.wustl.edu 37 5 154396141 154396141 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099293.1 +1 provisional p.H908N 0.835 184 0% 215 23.3% 0 - possibly_damaging(0.677) tolerated(0.18) neutral(0.297) NULL CYFIP2 26999 genome.wustl.edu 37 5 156742096 156742096 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037332.2 +1 validated p.F450 0.994 60 0% 52 28.8% 11 27.2% - - - HMMPfam_FragX_IP CYFIP2 26999 genome.wustl.edu 37 5 156816394 156816394 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037332.2 +1 validated p.F1135 0.460 39 0% 38 31.6% 36 38.8% - - - HMMPfam_FragX_IP NIPAL4 348938 genome.wustl.edu 37 5 156890336 156890336 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099287.1 +1 reviewed p.R153Q 0.993 45 0% 47 25.5% 0 - unknown(0) - - HMMPfam_DUF803 ADAM19 8728 genome.wustl.edu 37 5 156946858 156946858 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033274.2 -1 reviewed p.R197* 0.042 183 0% 171 28.1% 5 0% - - - NULL LSM11 134353 genome.wustl.edu 37 5 157178487 157178487 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173491.2 +1 provisional p.R180W 1.000 224 0% 184 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Sm_like_riboprot TTC1 7265 genome.wustl.edu 37 5 159463770 159463770 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003314.1 +1 provisional p.S155L 0.979 194 0% 136 27.2% 45 40% possibly_damaging(0.872) deleterious(0) deleterious(0.784) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TTC1 7265 genome.wustl.edu 37 5 159492045 159492045 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003314.1 +1 provisional p.F284 1.000 112 0% 66 22.7% 75 32% - - - NULL FABP6 2172 genome.wustl.edu 37 5 159659125 159659125 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040442.1 +1 reviewed p.E79K 0.997 71 0% 55 38.2% 1 0% possibly_damaging(0.474) tolerated(0.83) neutral(0.157) HMMPfam_Lipocalin,superfamily_Calycin LOC727947 727947 genome.wustl.edu 37 5 159685548 159685548 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001126641.2 +1 model p.E97* 0.974 264 0% 253 26.1% 1 0% - - - HMMPfam_UCR_14kD,superfamily_14 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) SLU7 10569 genome.wustl.edu 37 5 159831875 159831875 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006425.4 -1 reviewed p.C469G 0.000 111 0% 91 31.9% 16 25% benign(0) tolerated(0.36) neutral(0.020) NULL ATP10B 23120 genome.wustl.edu 37 5 160039804 160039804 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025153.2 -1 validated p.S928P 1.000 59 0% 51 25.5% 0 - probably_damaging(0.971) deleterious(0.02) deleterious(0.796) superfamily_HAD-like ATP10B 23120 genome.wustl.edu 37 5 160047853 160047853 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025153.2 -1 validated p.S639 0.986 346 0% 273 25.3% 3 0% - - - superfamily_HAD-like ATP10B 23120 genome.wustl.edu 37 5 160059358 160059358 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025153.2 -1 validated p.T466 0.996 141 0% 130 31.5% 0 - - - - superfamily_HAD-like ATP10B 23120 genome.wustl.edu 37 5 160067517 160067517 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025153.2 -1 validated p.I317 1.000 102 1% 127 34.6% 2 0% - - - HMMPfam_E1-E2_ATPase ATP10B 23120 genome.wustl.edu 37 5 160113175 160113175 + Silent SNP G G A rs190770337 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025153.2 -1 validated p.F127 0.021 71 0% 67 35.8% 0 - - - - HMMPfam_E1-E2_ATPase GABRB2 2561 genome.wustl.edu 37 5 160753387 160753387 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021911.2 -1 reviewed p.F393L 1.000 170 0% 155 29% 0 - unknown(0) tolerated(0.67) - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRB2 2561 genome.wustl.edu 37 5 160761872 160761872 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021911.2 -1 reviewed p.R240I 1.000 202 0.5% 117 28.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA6 2559 genome.wustl.edu 37 5 161116043 161116043 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000811.2 +1 reviewed p.N105T 1.000 271 0% 240 31.7% 0 - probably_damaging(1) tolerated(0.35) deleterious(0.520) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRA1 2554 genome.wustl.edu 37 5 161324356 161324356 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000806.5 +1 reviewed p.I433 1.000 338 0% 260 12.7% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRG2 2566 genome.wustl.edu 37 5 161524709 161524709 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198903.2 +1 reviewed p.T131 0.998 291 0% 229 29.7% 0 - benign(0) deleterious(0) neutral(0.445) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRG2 2566 genome.wustl.edu 37 5 161576213 161576213 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198903.2 +1 reviewed p.V381A 1.000 135 0% 120 26.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore CCNG1 900 genome.wustl.edu 37 5 162866369 162866369 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004060.3 +1 reviewed p.L36R 0.999 134 0% 99 30.3% 74 47.2% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Cyclin_N,superfamily_Cyclin-like HMMR 3161 genome.wustl.edu 37 5 162896681 162896681 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142556.1 +1 reviewed p.D103G 0.999 136 0% 119 27.7% 5 60% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL HMMR 3161 genome.wustl.edu 37 5 162900563 162900563 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142556.1 +1 reviewed p.E302* 1.000 135 0% 110 34.5% 1 0% - - - NULL ODZ2 57451 genome.wustl.edu 37 5 167419970 167419970 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122679.1 +1 inferred p.S323 0.995 309 0.3% 206 30.6% 0 - - - - HMMPfam_Ten_N ODZ2 57451 genome.wustl.edu 37 5 167674406 167674406 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122679.1 +1 inferred p.F2145 0.980 130 0% 130 31.5% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases ODZ2 57451 genome.wustl.edu 37 5 167674778 167674778 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122679.1 +1 inferred p.F2269 0.320 74 0% 95 33.7% 0 - - - - NULL WWC1 23286 genome.wustl.edu 37 5 167855774 167855774 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015238.2 +1 reviewed p.R661Q 0.981 139 0% 101 34.7% 49 42.8% benign(0) tolerated(1) - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PANK3 79646 genome.wustl.edu 37 5 167995656 167995656 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024594.2 -1 reviewed p.R126C 1.000 93 0% 89 30.3% 9 55.5% possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) HMMPfam_Fumble,superfamily_SSF53067 ENSG00000233913 0 genome.wustl.edu 37 5 168043530 168043530 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000421908 +1 known p.E58D 1.000 534 0% 558 13.1% 415 0% - - - HMMPfam_Ribosomal_L16,superfamily_Ribosomal protein L10e SLIT3 6586 genome.wustl.edu 37 5 168149939 168149939 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003062.2 -1 validated p.L804M 0.995 63 0% 60 26.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00368,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like SLIT3 6586 genome.wustl.edu 37 5 168233566 168233566 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003062.2 -1 validated p.N274D 1.000 110 0% 80 25% 4 0% benign(0.011) tolerated(0.61) neutral(0.005) superfamily_L domain-like SLIT3 6586 genome.wustl.edu 37 5 168250266 168250266 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003062.2 -1 validated p.L210M 0.715 272 0% 265 31.3% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00368,superfamily_L domain-like CCDC99 54908 genome.wustl.edu 37 5 169018168 169018168 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017785.4 +1 validated p.E92 0.973 157 0% 151 23.2% 4 50% - - - NULL CCDC99 54908 genome.wustl.edu 37 5 169025479 169025479 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017785.4 +1 validated e8-1 0.997 167 0% 155 25.8% 0 - - - - - DOCK2 1794 genome.wustl.edu 37 5 169116255 169116255 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004946.2 +1 validated e9-1 1.000 59 0% 64 31.2% 0 - - - - - DOCK2 1794 genome.wustl.edu 37 5 169468078 169468078 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004946.2 +1 validated p.D1229N 1.000 78 0% 72 31.9% 5 0% probably_damaging(0.997) tolerated(0.11) deleterious(0.738) NULL LCP2 3937 genome.wustl.edu 37 5 169689734 169689734 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005565.3 -1 reviewed p.E277D 0.392 96 0% 81 30.9% 16 0% benign(0.109) tolerated(0.1) neutral(0.295) NULL FGF18 8817 genome.wustl.edu 37 5 170876179 170876179 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003862.1 +1 reviewed p.F93 1.000 216 0% 199 28.1% 50 36% - - - HMMPfam_FGF,HMMSmart_FGF,superfamily_Cytok_IL1_like UBTD2 92181 genome.wustl.edu 37 5 171639034 171639034 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152277.2 -1 validated p.R169C 1.000 299 0% 237 29.5% 15 26.6% probably_damaging(0.998) tolerated(0.18) deleterious(0.530) HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 BNIP1 662 genome.wustl.edu 37 5 172581346 172581346 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013979.2 +1 reviewed p.E110K 1.000 77 0% 70 25.7% 5 20% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL NKX2-5 1482 genome.wustl.edu 37 5 172659648 172659648 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004387.3 -1 reviewed p.L300S 1.000 32 0% 24 29.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LOC100127922 100127922 genome.wustl.edu 37 5 173988788 173988788 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342573.1 +1 model p.E48K 0.840 32 0% 40 30% 2 0% - - - superfamily_Ubiquitin-like MSX2 4488 genome.wustl.edu 37 5 174156169 174156169 + Missense_Mutation SNP G G A rs186769394 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002449.4 +1 reviewed p.M129I 1.000 118 0% 146 26.7% 17 41.1% benign(0.001) tolerated(0.07) neutral(0.319) superfamily_Homeodomain-like DRD1 1812 genome.wustl.edu 37 5 174868998 174868998 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000794.3 -1 reviewed p.A369T 0.996 122 0% 110 21.8% 0 - benign(0.004) tolerated(0.15) neutral(0.241) NULL HRH2 3274 genome.wustl.edu 37 5 175110474 175110474 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001131055.1 +1 reviewed p.L80M 1.000 311 0% 274 31.4% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_7tm_1,superfamily_SSF81321 FAM153B 202134 genome.wustl.edu 37 5 175528585 175528585 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079529.2 +1 validated e12+1 0.004 163 0% 151 15.2% 0 - - - - - C5orf25 375484 genome.wustl.edu 37 5 175763857 175763857 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198567.4 +1 validated p.S335Y 0.990 105 0% 121 32.2% 3 0% possibly_damaging(0.856) deleterious(0) deleterious(0.775) NULL CDHR2 54825 genome.wustl.edu 37 5 176011830 176011830 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017675.4 +1 reviewed p.L850I 0.000 44 0% 48 33.3% 0 - benign(0) tolerated(0.54) neutral(0.007) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin GPRIN1 114787 genome.wustl.edu 37 5 176025561 176025561 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052899.2 -1 validated p.D425E 0.000 106 0% 72 25% 14 42.8% benign(0.017) tolerated(1) neutral(0.001) NULL FGFR4 2264 genome.wustl.edu 37 5 176517964 176517964 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002011.3 +1 reviewed p.R154 1.000 298 0.3% 177 31.6% 3 33.3% - - - HMMPfam_I-set,superfamily_Immunoglobulin NSD1 64324 genome.wustl.edu 37 5 176562916 176562916 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022455.4 +1 reviewed p.L271S 1.000 163 0% 139 36% 0 - benign(0.08) deleterious(0) neutral(0.450) NULL NSD1 64324 genome.wustl.edu 37 5 176631233 176631233 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022455.4 +1 reviewed p.F392 0.999 288 0% 237 31.6% 1 100% - - - HMMPfam_PWWP,superfamily_Tudor/PWWP/MBT NSD1 64324 genome.wustl.edu 37 5 176638935 176638935 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022455.4 +1 reviewed p.E1179* 1.000 181 0% 161 25.5% 0 - - - - NULL NSD1 64324 genome.wustl.edu 37 5 176721858 176721858 + Missense_Mutation SNP C C A rs6877852 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022455.4 +1 reviewed p.L2497M 0.991 137 0% 170 38.2% 8 37.5% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL PRELID1 27166 genome.wustl.edu 37 5 176732931 176732931 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000503853 +1 known p.P75S 1.000 36 0% 42 11.9% 415 36.3% - - - HMMPfam_PRELI RGS14 10636 genome.wustl.edu 37 5 176793192 176793192 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006480.4 +1 reviewed p.T28A 0.035 22 0% 21 38.1% 0 - benign(0) tolerated(0.7) neutral(0.002) NULL SLC34A1 6569 genome.wustl.edu 37 5 176813304 176813304 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003052.4 +1 reviewed p.F114 0.949 81 0% 94 28.7% 1 100% - - - HMMPfam_Na_Pi_cotrans SLC34A1 6569 genome.wustl.edu 37 5 176825280 176825280 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003052.4 +1 reviewed p.R638H 0.674 30 0% 32 31.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM193B 54540 genome.wustl.edu 37 5 176948999 176948999 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019057.3 -1 validated p.T783A 1.000 38 0% 46 37% 10 60% benign(0.017) tolerated(0.32) neutral(0.025) NULL LOC202181 202181 genome.wustl.edu 37 5 177059582 177059582 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_026921.1 -1 predicted NULL 0.531 227 0% 239 26.8% 0 - - - - - N4BP3 23138 genome.wustl.edu 37 5 177547466 177547466 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015111.1 +1 validated p.S206 0.999 43 0% 30 26.7% 6 16.6% - - - NULL CLK4 57396 genome.wustl.edu 37 5 178040601 178040601 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020666.2 -1 reviewed p.G233 1.000 121 0% 103 35% 7 42.8% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CLK4 57396 genome.wustl.edu 37 5 178045656 178045656 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020666.2 -1 reviewed p.S95 0.958 169 0% 121 31.4% 10 20% - - - NULL ZNF354A 6940 genome.wustl.edu 37 5 178139250 178139250 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005649.2 -1 validated p.I543M 0.997 278 0% 265 28.7% 8 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354A 6940 genome.wustl.edu 37 5 178140480 178140480 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005649.2 -1 validated p.E133D 0.742 354 0% 329 32.5% 9 11.1% benign(0) tolerated(0.32) neutral(0.024) NULL ZNF354B 117608 genome.wustl.edu 37 5 178309920 178309920 + Missense_Mutation SNP G G T rs78975259 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_058230.2 +1 validated p.R156I 0.000 138 0% 134 25.4% 0 - possibly_damaging(0.634) deleterious(0.01) deleterious(0.628) NULL ZNF354B 117608 genome.wustl.edu 37 5 178310658 178310658 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_058230.2 +1 validated p.R402I 1.000 239 0% 220 20% 5 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354B 117608 genome.wustl.edu 37 5 178310945 178310945 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_058230.2 +1 validated p.E498K 0.001 207 1% 188 27.1% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF454 285676 genome.wustl.edu 37 5 178392532 178392532 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182594.2 +1 validated p.R376I 1.000 179 0% 205 25.4% 0 - possibly_damaging(0.904) deleterious(0) deleterious(0.803) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF454 285676 genome.wustl.edu 37 5 178392784 178392784 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182594.2 +1 validated p.R460K 1.000 244 0% 282 39.7% 0 - possibly_damaging(0.836) tolerated(0.12) deleterious(0.580) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GRM6 2916 genome.wustl.edu 37 5 178410202 178410202 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000843.3 -1 reviewed p.W715C 1.000 35 0% 28 21.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_3 GRM6 2916 genome.wustl.edu 37 5 178416330 178416330 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000843.3 -1 reviewed p.E363D 1.000 102 0% 71 28.2% 0 - benign(0) tolerated(0.98) - HMMPfam_ANF_receptor,superfamily_SSF53822 ZNF879 345462 genome.wustl.edu 37 5 178460040 178460040 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136116.1 +1 provisional p.R364Q 0.939 19 0% 33 39.4% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF354C 30832 genome.wustl.edu 37 5 178506143 178506143 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014594.1 +1 provisional p.I237S 0.998 138 0% 121 29.8% 1 0% possibly_damaging(0.777) tolerated(0.06) deleterious(0.613) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354C 30832 genome.wustl.edu 37 5 178506542 178506542 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014594.1 +1 provisional p.S370Y 0.091 321 0% 315 31.7% 0 - probably_damaging(0.996) tolerated(1) neutral(0.462) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ADAMTS2 9509 genome.wustl.edu 37 5 178541079 178541079 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014244.2 -1 reviewed p.V1142D 0.002 200 0% 176 31.8% 16 0% benign(0) tolerated(0.45) neutral(0.012) NULL C5orf45 51149 genome.wustl.edu 37 5 179269057 179269057 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016175.3 -1 validated p.S100L 0.000 202 0% 175 27.4% 11 54.5% possibly_damaging(0.832) tolerated(0.08) deleterious(0.617) NULL TBC1D9B 23061 genome.wustl.edu 37 5 179297289 179297289 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198868.2 -1 validated p.S897 0.000 43 0% 26 42.3% 41 48.7% - - - HMMPfam_efhand,superfamily_EF-hand GFPT2 9945 genome.wustl.edu 37 5 179751873 179751873 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005110.2 -1 provisional p.G207R 1.000 95 0% 100 26% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GATase_2,superfamily_SSF56235 OR2V1 26693 genome.wustl.edu 37 5 180551592 180551592 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000329365 -1 known p.A238D 1.000 153 0% 142 30.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 OR2V2 285659 genome.wustl.edu 37 5 180582032 180582032 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206880.1 +1 provisional p.S30 0.001 445 0% 462 28.4% 0 - - - - superfamily_SSF81321 TRIM7 81786 genome.wustl.edu 37 5 180625734 180625734 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203293.1 -1 reviewed p.S315Y 1.000 82 0% 77 24.7% 4 100% probably_damaging(0.959) tolerated(0.07) deleterious(0.722) NULL TRIM41 90933 genome.wustl.edu 37 5 180651586 180651586 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033549.3 +1 validated p.R196H 0.990 71 0% 73 27.4% 6 16.6% possibly_damaging(0.948) deleterious(0) deleterious(0.836) superfamily_RING/U-box FOXF2 2295 genome.wustl.edu 37 6 1390653 1390653 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001452.1 +1 reviewed p.C157 1.000 60 0% 48 27.1% 3 0% - - - "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" FOXF2 2295 genome.wustl.edu 37 6 1394947 1394947 + Nonsense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001452.1 +1 reviewed p.Y396* 1.000 141 0% 109 36.7% 1 0% - - - NULL GMDS 2762 genome.wustl.edu 37 6 1742738 1742738 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001500.2 -1 validated p.V285G 1.000 140 0% 133 35.3% 171 44.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_NAD(P)-bd GMDS 2762 genome.wustl.edu 37 6 2117747 2117747 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001500.2 -1 validated p.R64Q 1.000 195 0.5% 164 32.3% 90 43.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Epimerase,superfamily_NAD(P)-bd SERPINB9 5272 genome.wustl.edu 37 6 2890726 2890726 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004155.4 -1 validated p.L268I 0.000 267 0% 258 38% 11 36.3% benign(0.025) tolerated(0.33) neutral(0.025) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB9 5272 genome.wustl.edu 37 6 2896399 2896399 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004155.4 -1 validated p.D65G 0.820 364 0% 272 29.8% 11 18.1% benign(0.128) tolerated(0.07) neutral(0.330) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin PRPF4B 8899 genome.wustl.edu 37 6 4032372 4032372 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003913.4 +1 reviewed p.I207 0.040 536 0% 569 33.2% 5 80% - - - NULL FAM217A 222826 genome.wustl.edu 37 6 4069085 4069085 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173563.1 -1 predicted p.E458* 0.996 183 0% 162 35.8% 0 - - - - NULL FAM217A 222826 genome.wustl.edu 37 6 4069255 4069255 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173563.1 -1 predicted p.K401T 0.222 229 0% 194 27.3% 0 - possibly_damaging(0.836) deleterious(0.02) deleterious(0.703) NULL FAM217A 222826 genome.wustl.edu 37 6 4069866 4069866 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173563.1 -1 predicted p.E197D 0.998 178 0% 135 30.4% 0 - possibly_damaging(0.791) deleterious(0) deleterious(0.741) NULL CDYL 9425 genome.wustl.edu 37 6 4935869 4935869 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004824.3 +1 reviewed p.D271G 1.000 193 0% 155 31% 14 35.7% possibly_damaging(0.797) deleterious(0.02) deleterious(0.682) NULL LYRM4 57128 genome.wustl.edu 37 6 5216859 5216859 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020408.4 -1 validated p.R67C 0.997 379 0% 323 30.7% 73 23.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Complex1_LYR F13A1 2162 genome.wustl.edu 37 6 6222306 6222306 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000129.3 -1 reviewed p.D358Y 0.977 125 0% 107 26.2% 0 - benign(0.029) deleterious(0.01) neutral(0.407) HMMPfam_Transglut_core,HMMSmart_TGc,superfamily_SSF54001 CAGE1 285782 genome.wustl.edu 37 6 7355322 7355322 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_205864.2 -1 validated p.I576S 0.872 164 0% 145 27.6% 0 - benign(0.429) tolerated(0.06) neutral(0.462) NULL CAGE1 285782 genome.wustl.edu 37 6 7373437 7373437 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_205864.2 -1 validated p.E403K 0.000 58 0% 61 31.1% 0 - possibly_damaging(0.478) tolerated(0.32) neutral(0.182) NULL RIOK1 83732 genome.wustl.edu 37 6 7411641 7411641 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031480.2 +1 reviewed p.K449T 0.890 115 0% 108 35.2% 23 21.7% benign(0.119) tolerated(0.24) neutral(0.047) NULL DSP 1832 genome.wustl.edu 37 6 7569527 7569527 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004415.2 +1 reviewed p.L510M 0.994 105 0% 68 42.6% 20 65% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Spectrin repeat DSP 1832 genome.wustl.edu 37 6 7581493 7581493 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004415.2 +1 reviewed p.E1690D 1.000 188 0% 228 33.3% 21 76.1% possibly_damaging(0.945) tolerated(0.1) deleterious(0.676) superfamily_Prefoldin DSP 1832 genome.wustl.edu 37 6 7583290 7583290 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004415.2 +1 reviewed p.R1932H 0.780 166 0% 192 26% 53 35.8% probably_damaging(0.995) tolerated(0.13) deleterious(0.710) NULL DSP 1832 genome.wustl.edu 37 6 7583910 7583910 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004415.2 +1 reviewed p.N2139H 0.997 168 0% 145 32.4% 66 22.7% probably_damaging(0.961) tolerated(0.55) neutral(0.411) HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat DSP 1832 genome.wustl.edu 37 6 7584921 7584921 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004415.2 +1 reviewed p.E2476* 1.000 231 0% 235 27.7% 118 33% - - - HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat DSP 1832 genome.wustl.edu 37 6 7585433 7585433 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004415.2 +1 reviewed p.T2646 0.001 209 0% 226 27.4% 155 27% - - - HMMSmart_SM00250,superfamily_Plakin repeat TXNDC5 81567 genome.wustl.edu 37 6 7883469 7883469 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030810.2 -1 reviewed p.R403* 1.000 121 0% 102 22.5% 82 30.4% - - - superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin MUTED 63915 genome.wustl.edu 37 6 8041477 8041477 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201280.1 -1 reviewed p.R74* 1.000 207 0% 222 32% 7 42.8% - - - NULL TFAP2A 7020 genome.wustl.edu 37 6 10400727 10400727 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003220.2 -1 reviewed p.D327N 1.000 181 0% 188 27.7% 17 11.7% benign(0.313) tolerated(0.12) neutral(0.358) HMMPfam_TF_AP-2 TFAP2A 7020 genome.wustl.edu 37 6 10402840 10402840 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000475264 -1 known p.R161Q 0.998 109 0% 89 73% 14 100% - - - HMMPfam_TF_AP-2 GCNT2 2651 genome.wustl.edu 37 6 10529340 10529340 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145649.4 +1 reviewed p.K66E 0.992 344 0% 299 29.1% 1 0% benign(0.018) tolerated(1) neutral(0.001) NULL GCM2 9247 genome.wustl.edu 37 6 10876135 10876135 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004752.3 -1 reviewed p.R191* 0.009 120 0.8% 121 28.9% 0 - - - - NULL SYCP2L 221711 genome.wustl.edu 37 6 10913099 10913099 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040274.2 +1 validated e14-1 0.968 180 0% 176 31.2% 0 - - - - - HIVEP1 3096 genome.wustl.edu 37 6 12120750 12120750 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002114.2 +1 validated p.M241T 0.000 441 0% 498 32.7% 0 - benign(0) tolerated(0.08) neutral(0.300) NULL HIVEP1 3096 genome.wustl.edu 37 6 12122914 12122914 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002114.2 +1 validated p.E962D 1.000 239 0% 255 21.2% 0 - probably_damaging(0.991) tolerated(0.22) deleterious(0.486) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PHACTR1 221692 genome.wustl.edu 37 6 13053675 13053675 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030948.1 +1 validated p.R110I 1.000 43 0% 52 36.5% 0 - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL PHACTR1 221692 genome.wustl.edu 37 6 13283791 13283791 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000415087 +1 known p.T384I 1.000 79 0% 52 32.7% 2 0% - - - NULL JARID2 3720 genome.wustl.edu 37 6 15452403 15452403 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004973.2 +1 reviewed p.R164* 1.000 212 0% 169 34.3% 6 33.3% - - - NULL CAP2 10486 genome.wustl.edu 37 6 17421790 17421790 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006366.2 +1 reviewed p.A2T 0.999 170 0% 137 29.2% 1 100% benign(0) deleterious(0.03) neutral(0.364) NULL NUP153 9972 genome.wustl.edu 37 6 17629507 17629507 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005124.2 -1 reviewed p.D975Y 1.000 217 0% 176 27.3% 10 40% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL KIF13A 63971 genome.wustl.edu 37 6 17764737 17764737 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022113.4 -1 validated p.A1674 1.000 77 0% 88 31.8% 16 6.2% - - - NULL KIF13A 63971 genome.wustl.edu 37 6 17781109 17781109 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022113.4 -1 validated p.S1233L 1.000 127 0% 106 30.2% 2 50% possibly_damaging(0.614) deleterious(0) deleterious(0.657) NULL KIF13A 63971 genome.wustl.edu 37 6 17828565 17828565 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022113.4 -1 validated p.I480V 1.000 37 0% 40 27.5% 2 50% possibly_damaging(0.526) deleterious(0.03) deleterious(0.542) HMMPfam_FHA,superfamily_SMAD/FHA domain TPMT 7172 genome.wustl.edu 37 6 18143901 18143901 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000367.2 -1 reviewed p.E98* 1.000 137 0% 96 40.6% 20 0% - - - HMMPfam_TPMT,superfamily_SSF53335 KDM1B 221656 genome.wustl.edu 37 6 18207661 18207661 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153042.3 +1 validated p.F332L 1.000 211 0% 180 30.6% 9 77.7% benign(0.428) tolerated(0.48) neutral(0.150) HMMPfam_Amino_oxidase,superfamily_SSF51905 DEK 7913 genome.wustl.edu 37 6 18249894 18249894 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003472.3 -1 reviewed p.E250D 1.000 80 0% 75 22.7% 38 44.7% unknown(0) tolerated(0.05) - NULL GPLD1 2822 genome.wustl.edu 37 6 24448137 24448137 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001503.2 -1 reviewed p.A549V 0.996 102 0% 87 31% 0 - benign(0.002) tolerated(1) - HMMPfam_FG-GAP,HMMSmart_SM00191 GPLD1 2822 genome.wustl.edu 37 6 24448419 24448419 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001503.2 -1 reviewed p.Y488* 1.000 74 0% 82 34.1% 1 0% - - - HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ALDH5A1 7915 genome.wustl.edu 37 6 24523149 24523149 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170740.1 +1 reviewed p.E403G 1.000 109 0% 100 25% 6 33.3% possibly_damaging(0.81) tolerated(0.09) deleterious(0.601) HMMPfam_Aldedh,superfamily_ALDH-like KIAA0319 9856 genome.wustl.edu 37 6 24570151 24570151 + Missense_Mutation SNP G G T rs41271797 byCluster;byFrequency TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014809.3 -1 reviewed p.F657L 0.866 94 0% 83 33.7% 0 - benign(0) tolerated(0.53) neutral(0.007) HMMSmart_SM00089,superfamily_PKD domain,HMMSmart_SM00060 KIAA0319 9856 genome.wustl.edu 37 6 24578458 24578458 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014809.3 -1 reviewed p.D462A 0.996 364 0% 278 28.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00089,superfamily_PKD domain,HMMSmart_SM00060 ACOT13 55856 genome.wustl.edu 37 6 24701706 24701706 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018473.3 +1 reviewed p.L96I 0.651 202 0% 178 29.8% 96 29.1% benign(0.005) tolerated(0.67) neutral(0.003) HMMPfam_4HBT,superfamily_Thioesterase/thiol ester dehydrase-isomerase FAM65B 9750 genome.wustl.edu 37 6 24843451 24843451 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014722.2 -1 validated p.R520H 0.006 141 0% 167 24.6% 0 - possibly_damaging(0.598) tolerated(0.12) neutral(0.468) NULL FAM65B 9750 genome.wustl.edu 37 6 24861222 24861222 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014722.2 -1 validated p.E203Q 1.000 20 0% 25 28% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL LRRC16A 55604 genome.wustl.edu 37 6 25529042 25529042 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017640.5 +1 validated p.R663Q 0.999 32 0% 34 23.5% 12 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52047 LRRC16A 55604 genome.wustl.edu 37 6 25551213 25551213 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017640.5 +1 validated p.D802Y 1.000 265 0% 222 12.6% 14 7.1% possibly_damaging(0.882) deleterious(0.01) deleterious(0.750) NULL LRRC16A 55604 genome.wustl.edu 37 6 25600613 25600613 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017640.5 +1 validated p.S1064Y 1.000 215 0% 276 30.4% 4 75% benign(0.03) deleterious(0.03) neutral(0.366) NULL HIST1H2AA 221613 genome.wustl.edu 37 6 25726524 25726524 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170745.3 -1 reviewed p.R78C 0.898 125 0% 148 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_H2A,HMMPfam_Histone,superfamily_Histone-fold SLC17A1 6568 genome.wustl.edu 37 6 25826710 25826710 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005074.3 -1 validated p.K62N 0.000 313 0% 281 28.5% 0 - benign(0.286) tolerated(0.37) neutral(0.107) HMMPfam_MFS_1,superfamily_MFS general substrate transporter TRIM38 10475 genome.wustl.edu 37 6 25972171 25972171 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006355.2 +1 reviewed p.E194D 0.977 116 0% 114 21.9% 6 50% possibly_damaging(0.889) deleterious(0.01) deleterious(0.755) NULL HIST1H3D 8351 genome.wustl.edu 37 6 26197126 26197126 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003530.3 -1 reviewed p.V118A 1.000 85 0% 87 26.4% 3 66.6% benign(0.058) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold HIST1H1D 3007 genome.wustl.edu 37 6 26234994 26234994 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005320.2 -1 reviewed p.S56 1.000 116 0% 109 30.3% 0 - - - - "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" HIST1H1D 3007 genome.wustl.edu 37 6 26234995 26234995 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005320.2 -1 reviewed p.S56T 0.996 115 0% 111 29.7% 0 - benign(0.202) tolerated(0.28) neutral(0.051) "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" BTN3A2 11118 genome.wustl.edu 37 6 26370573 26370573 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007047.3 +1 reviewed p.E153K 0.000 151 0% 179 25.1% 7 14.2% benign(0.066) tolerated(0.57) neutral(0.010) HMMPfam_V-set,superfamily_SSF48726 BTN3A1 11119 genome.wustl.edu 37 6 26413521 26413521 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007048.5 +1 validated p.H381Q 0.000 498 0% 440 24.8% 3 33.3% benign(0) tolerated(0.4) neutral(0.016) HMMSmart_SM00589 BTN2A1 11120 genome.wustl.edu 37 6 26465578 26465578 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007049.2 +1 reviewed p.A293V 0.001 316 0% 252 30.2% 11 36.3% benign(0.208) deleterious(0.02) neutral(0.403) NULL FKSG83 387316 genome.wustl.edu 37 6 27293319 27293319 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032030.2 +1 validated p.E86D 0.001 485 0% 403 30.3% 0 - - - - HMMPfam_V1R ZSCAN16 80345 genome.wustl.edu 37 6 28093498 28093498 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025231.1 +1 provisional p.L93I 0.990 152 0% 185 29.2% 13 15.3% possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_SCAN,HMMSmart_SCAN ZKSCAN4 387032 genome.wustl.edu 37 6 28214772 28214772 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019110.3 -1 provisional p.E251 0.348 154 0% 138 30.4% 1 0% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box PGBD1 84547 genome.wustl.edu 37 6 28269871 28269871 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032507.3 +1 reviewed p.S747L 0.822 221 0% 270 26.7% 1 0% possibly_damaging(0.832) tolerated(0.06) deleterious(0.639) NULL ZNF323 64288 genome.wustl.edu 37 6 28297374 28297374 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135215.1 -1 validated p.G29 0.000 194 0% 213 34.3% 2 50% - - - NULL GPX6 257202 genome.wustl.edu 37 6 28483517 28483517 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182701.1 -1 reviewed p.F2L 0.035 96 0% 76 26.3% 0 - benign(0) tolerated(0.24) neutral(0.037) NULL SCAND3 114821 genome.wustl.edu 37 6 28540708 28540708 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052923.1 -1 provisional p.Q986H 0.998 191 0% 154 29.2% 0 - possibly_damaging(0.677) tolerated(0.15) deleterious(0.482) NULL SCAND3 114821 genome.wustl.edu 37 6 28542702 28542702 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052923.1 -1 provisional p.P594S 0.000 100 0% 99 33.3% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SCAND3 114821 genome.wustl.edu 37 6 28543525 28543525 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052923.1 -1 provisional p.G319 1.000 228 0.4% 181 29.3% 0 - - - - NULL TRIM27 5987 genome.wustl.edu 37 6 28889682 28889682 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006510.4 -1 reviewed p.R168Q 1.000 148 0% 141 43.3% 54 40.7% benign(0.098) tolerated(0.59) neutral(0.012) NULL ZNF311 282890 genome.wustl.edu 37 6 28963338 28963338 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010877.2 -1 provisional p.R481C 0.080 160 0% 179 29.6% 0 - probably_damaging(0.982) tolerated(0.19) deleterious(0.476) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF311 282890 genome.wustl.edu 37 6 28963661 28963661 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010877.2 -1 provisional p.S373F 0.001 130 0% 110 23.6% 0 - probably_damaging(0.986) deleterious(0.03) deleterious(0.799) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF311 282890 genome.wustl.edu 37 6 28963893 28963893 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010877.2 -1 provisional p.I296V 1.000 181 0% 174 36.8% 0 - benign(0.199) tolerated(0.12) neutral(0.280) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF311 282890 genome.wustl.edu 37 6 28963989 28963989 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010877.2 -1 provisional p.L264I 0.000 160 0% 141 17.7% 0 - benign(0.349) tolerated(0.34) neutral(0.134) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR2B3 442184 genome.wustl.edu 37 6 29054816 29054816 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005226.2 -1 validated p.D70 0.827 153 0% 132 31.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR12D3 81797 genome.wustl.edu 37 6 29236413 29236413 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000396806 -1 known p.I258M 0.000 122 0% 92 33.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5V1 81696 genome.wustl.edu 37 6 29323695 29323695 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030876.5 -1 validated p.S93Y 0.979 385 0% 414 27.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR12D3 81797 genome.wustl.edu 37 6 29342156 29342156 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030959.2 -1 provisional p.I303 0.000 390 0% 278 32% 0 - - - - superfamily_SSF81321 OR12D3 81797 genome.wustl.edu 37 6 29342287 29342287 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030959.2 -1 provisional p.R260C 0.000 257 0% 203 28.6% 0 - benign(0.175) tolerated(0.09) neutral(0.312) HMMPfam_7tm_1,superfamily_SSF81321 OR10C1 442194 genome.wustl.edu 37 6 29385442 29385442 + Missense_Mutation SNP G G A rs142512628 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000383554 +1 known p.R129H 0.006 128 0% 118 32.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MAS1L 116511 genome.wustl.edu 37 6 29455226 29455226 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052967.1 -1 provisional p.L152V 0.000 88 0% 99 43.4% 0 - benign(0.073) tolerated(0.7) neutral(0.007) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GABBR1 2550 genome.wustl.edu 37 6 29574970 29574970 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001470.2 -1 reviewed p.G673D 1.000 117 0% 132 34.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_3 ZFP57 346171 genome.wustl.edu 37 6 29640336 29640336 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001109809.2 -1 reviewed p.E498* 0.039 175 0% 194 28.4% 0 - - - - NULL ZFP57 346171 genome.wustl.edu 37 6 29643801 29643801 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001109809.2 -1 reviewed p.F33L 0.996 482 0% 383 26.6% 0 - probably_damaging(0.993) tolerated(0.43) neutral(0.464) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box HLA-G 3135 genome.wustl.edu 37 6 29795641 29795641 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002127.5 +1 reviewed p.R7Q 0.000 39 0% 35 22.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL TRIM31 11074 genome.wustl.edu 37 6 30080283 30080283 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007028.3 -1 reviewed p.E100 0.058 241 0% 191 32.5% 10 0% - - - HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_RING/U-box TRIM40 135644 genome.wustl.edu 37 6 30113804 30113804 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138700.3 +1 validated p.K127E 0.801 122 0% 99 32.3% 0 - possibly_damaging(0.907) deleterious(0.02) deleterious(0.744) NULL TRIM39 56658 genome.wustl.edu 37 6 30308067 30308067 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021253.3 +1 reviewed p.F274 0.000 122 0% 134 33.6% 0 - - - - NULL ABCF1 23 genome.wustl.edu 37 6 30548197 30548197 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001025091.1 +1 reviewed p.F193 1.000 110 0% 88 25% 13 23% - - - NULL PPP1R10 5514 genome.wustl.edu 37 6 30572489 30572489 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002714.2 -1 reviewed p.T326 0.675 421 0.2% 366 31.7% 13 38.4% - - - NULL MRPS18B 28973 genome.wustl.edu 37 6 30587316 30587316 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014046.3 +1 reviewed p.S42Y 0.996 109 0% 113 28.3% 55 45.4% possibly_damaging(0.805) deleterious(0.01) deleterious(0.709) NULL DHX16 8449 genome.wustl.edu 37 6 30638595 30638595 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003587.4 -1 reviewed p.R194Q 0.853 134 0% 149 28.2% 9 44.4% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) NULL DHX16 8449 genome.wustl.edu 37 6 30638708 30638708 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003587.4 -1 reviewed p.E156D 0.348 246 0% 218 32.6% 6 0% unknown(0) tolerated(0.23) - NULL SFTA2 389376 genome.wustl.edu 37 6 30899293 30899293 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_205854.2 -1 validated p.S70F 0.002 78 0% 65 32.3% 0 - possibly_damaging(0.901) tolerated(0.08) deleterious(0.657) NULL MUC21 394263 genome.wustl.edu 37 6 30955899 30955899 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010909.2 +1 validated p.S543 0.000 59 0% 42 23.8% 0 - - - - NULL HLA-C 3107 genome.wustl.edu 37 6 31238020 31238020 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002117.4 -1 reviewed p.E288K 0.423 39 0% 43 16.3% 107 0% benign(0) deleterious(0.01) neutral(0.406) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin AIF1 199 genome.wustl.edu 37 6 31584662 31584662 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001623.3 +1 reviewed p.I143 0.999 234 0% 306 28.4% 25 0% - - - NULL ABHD16A 7920 genome.wustl.edu 37 6 31664804 31664804 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021160.2 -1 reviewed p.G117D 1.000 150 0% 165 20.6% 79 36.7% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ABHD16A 7920 genome.wustl.edu 37 6 31669075 31669075 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021160.2 -1 reviewed p.A78T 1.000 48 0% 52 15.4% 47 21.2% benign(0.271) tolerated(0.1) neutral(0.316) NULL CLIC1 1192 genome.wustl.edu 37 6 31698688 31698688 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001288.4 -1 reviewed p.F219 0.972 56 0% 43 25.6% 1196 38.7% - - - superfamily_Glutathione S-transferase (GST) C-terminal domain MSH5 4439 genome.wustl.edu 37 6 31712014 31712014 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000463144 +1 known p.R119W 0.656 232 0% 362 34.8% 0 - - - - NULL MSH5 4439 genome.wustl.edu 37 6 31726549 31726549 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025259.5 +1 reviewed p.R425Q 1.000 82 0% 92 28.3% 4 25% possibly_damaging(0.941) tolerated(0.31) neutral(0.414) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII,HMMPfam_MutS_IV MSH5 4439 genome.wustl.edu 37 6 31729016 31729016 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025259.5 +1 reviewed p.E689* 1.000 48 0% 51 51% 3 0% - - - HMMPfam_MutS_V,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2,superfamily_SSF52540 VWA7 80737 genome.wustl.edu 37 6 31737834 31737834 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025258.2 -1 validated p.E382* 0.257 77 0% 100 21% 1 0% - - - HMMSmart_VWA,superfamily_SSF53300 VARS 7407 genome.wustl.edu 37 6 31748521 31748521 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006295.2 -1 reviewed p.D920N 0.994 62 0% 55 32.7% 124 38.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_tRNA-synt_1,superfamily_Nucleotidylyl transferase SLC44A4 80736 genome.wustl.edu 37 6 31839119 31839119 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025257.2 -1 reviewed p.F225V 1.000 134 0% 141 31.2% 12 41.6% benign(0.004) tolerated(0.13) neutral(0.253) NULL EHMT2 10919 genome.wustl.edu 37 6 31857249 31857249 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006709.3 -1 reviewed p.D332A 0.983 244 0% 173 28.9% 15 40% possibly_damaging(0.454) deleterious(0) deleterious(0.593) NULL C2 717 genome.wustl.edu 37 6 31911917 31911917 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000063.4 +1 reviewed p.E606* 0.062 75 0% 82 28% 33 0% - - - HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SKIV2L 6499 genome.wustl.edu 37 6 31929384 31929384 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006929.4 +1 reviewed p.A284T 1.000 98 0% 115 33.9% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SKIV2L 6499 genome.wustl.edu 37 6 31936220 31936220 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006929.4 +1 reviewed p.D992Y 1.000 47 0% 42 33.3% 22 31.8% benign(0.014) deleterious(0.01) neutral(0.406) NULL SKIV2L 6499 genome.wustl.edu 37 6 31937088 31937088 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006929.4 +1 reviewed p.R1144Q 1.000 30 0% 31 25.8% 36 36.1% possibly_damaging(0.727) tolerated(0.21) neutral(0.308) HMMPfam_DSHCT TNXB 7148 genome.wustl.edu 37 6 32015689 32015689 + Silent SNP G G A rs146798373 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019105.6 -1 reviewed p.F3380 0.259 57 0% 44 31.8% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32023806 32023806 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019105.6 -1 reviewed p.F2763 0.900 69 0% 39 38.5% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32024439 32024439 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019105.6 -1 reviewed p.D2689 0.998 55 0% 52 30.8% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32037937 32037937 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019105.6 -1 reviewed p.R1749C 0.081 18 0% 17 23.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32039945 32039945 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019105.6 -1 reviewed p.F1604 0.347 49 0% 49 30.6% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32049190 32049190 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019105.6 -1 reviewed p.R1333C 0.020 28 0% 24 29.2% 0 - probably_damaging(0.988) tolerated(0.14) deleterious(0.687) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32057143 32057143 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019105.6 -1 reviewed p.S791N 0.956 28 0% 31 25.8% 0 - possibly_damaging(0.602) tolerated(0.42) neutral(0.223) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32065827 32065827 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019105.6 -1 reviewed p.A50V 0.115 57 0% 58 27.6% 0 - possibly_damaging(0.936) deleterious(0.04) deleterious(0.730) NULL NOTCH4 4855 genome.wustl.edu 37 6 32166772 32166772 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004557.3 -1 reviewed p.R1489Q 0.007 109 0% 74 29.7% 4 0% possibly_damaging(0.79) tolerated(0.42) neutral(0.310) NULL BTNL2 56244 genome.wustl.edu 37 6 32362540 32362540 + Silent SNP G G A rs188023685 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019602.1 -1 provisional p.I447 0.000 156 0% 164 36.6% 0 - - - - superfamily_Immunoglobulin HLA-DRA 3122 genome.wustl.edu 37 6 32411076 32411076 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019111.3 +1 reviewed p.R148Q 0.004 175 0% 162 33.3% 608 0% benign(0.006) tolerated(0.06) neutral(0.323) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin HLA-DQA2 3118 genome.wustl.edu 37 6 32713147 32713147 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020056.3 +1 validated p.F98L 0.000 248 0% 251 33.1% 0 - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_MHC_II_alpha,superfamily_MHC antigen-recognition domain HLA-DOB 3112 genome.wustl.edu 37 6 32782371 32782371 + Splice_Site SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000447394 -1 known e3-2 0.979 333 0% 306 31.4% 2 100% - - - - TAP1 6890 genome.wustl.edu 37 6 32816896 32816896 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000593.5 -1 reviewed e6-1 1.000 17 0% 32 18.8% 0 - - - - - BRD2 6046 genome.wustl.edu 37 6 32943250 32943250 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000449025 +1 known p.V147A 1.000 162 0% 137 27% 60 28.3% - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 HLA-DOA 3111 genome.wustl.edu 37 6 32975299 32975299 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000453319 -1 known p.R79C 0.000 153 0% 111 27% 3 0% unknown(0) deleterious(0) - NULL HLA-DPB1 3115 genome.wustl.edu 37 6 33052874 33052874 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002121.4 +1 reviewed p.S171F 1.000 401 0% 374 30.7% 207 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin COL11A2 1302 genome.wustl.edu 37 6 33144065 33144065 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080680.2 -1 reviewed p.R729W 1.000 42 0% 59 18.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Collagen SLC39A7 7922 genome.wustl.edu 37 6 33170073 33170073 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000467504 +1 known NULL 1.000 188 0% 169 29.6% 87 41.3% - - - - SLC39A7 7922 genome.wustl.edu 37 6 33170166 33170166 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077516.1 +1 validated p.H254R 0.943 193 0% 209 32.5% 97 38.1% possibly_damaging(0.637) tolerated(0.52) neutral(0.232) HMMPfam_Zip VPS52 6293 genome.wustl.edu 37 6 33236863 33236863 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022553.4 -1 reviewed p.R159Q 1.000 311 0% 224 29.5% 38 52.6% benign(0.016) tolerated(0.35) neutral(0.021) HMMPfam_Vps52 DAXX 1616 genome.wustl.edu 37 6 33287248 33287248 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001141970.1 -1 reviewed p.V629I 0.946 297 0% 324 38.3% 79 37.9% probably_damaging(0.987) tolerated(0.17) deleterious(0.495) HMMPfam_Daxx SYNGAP1 8831 genome.wustl.edu 37 6 33411623 33411623 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006772.2 +1 reviewed p.S1098R 0.992 39 0% 30 33.3% 0 - possibly_damaging(0.718) tolerated(0.08) deleterious(0.560) NULL MNF1 84300 genome.wustl.edu 37 6 33669137 33669137 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032340.2 -1 predicted p.Y67D 1.000 171 0% 110 21.8% 150 41.3% probably_damaging(0.999) tolerated(0.2) deleterious(0.539) NULL IP6K3 117283 genome.wustl.edu 37 6 33690743 33690743 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142883.1 -1 reviewed p.I329 1.000 74 0% 78 32.1% 0 - - - - HMMPfam_IPK,superfamily_SAICAR synthase-like MLN 4295 genome.wustl.edu 37 6 33768841 33768841 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002418.2 -1 reviewed p.E34K 0.666 73 0% 101 33.7% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Motilin_ghrelin NUDT3 11165 genome.wustl.edu 37 6 34256549 34256549 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006703.2 -1 validated p.S167L 0.997 176 0% 162 26.5% 70 48.5% benign(0.012) deleterious(0) neutral(0.445) NULL C6orf106 64771 genome.wustl.edu 37 6 34574539 34574539 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024294.2 -1 validated p.K218N 1.000 149 0% 158 29.7% 28 25% possibly_damaging(0.925) tolerated(0.1) deleterious(0.660) NULL UHRF1BP1 54887 genome.wustl.edu 37 6 34838661 34838661 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017754.3 +1 validated p.K1250T 0.299 104 0% 86 11.6% 6 0% benign(0.01) tolerated(0.57) neutral(0.007) NULL ANKS1A 23294 genome.wustl.edu 37 6 34949577 34949577 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015245.2 +1 validated p.F182 0.043 104 0% 83 31.3% 2 0% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKS1A 23294 genome.wustl.edu 37 6 35048782 35048782 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015245.2 +1 validated p.L852F 0.997 122 0.8% 126 32.5% 5 20% probably_damaging(0.997) tolerated(0.07) deleterious(0.785) HMMPfam_Ank SCUBE3 222663 genome.wustl.edu 37 6 35209659 35209659 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152753.2 +1 provisional p.G463 0.990 90 0% 114 31.6% 1 0% - - - NULL ZNF76 7629 genome.wustl.edu 37 6 35260507 35260507 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003427.3 +1 provisional p.E370K 1.000 34 0% 35 28.6% 4 0% possibly_damaging(0.795) deleterious(0.02) deleterious(0.681) superfamily_C2H2 and C2HC zinc fingers FKBP5 2289 genome.wustl.edu 37 6 35610507 35610507 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145775.1 -1 reviewed p.G32E 1.000 227 0% 175 25.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FKBP-like MAPK14 1432 genome.wustl.edu 37 6 36020554 36020554 + Silent SNP G G A rs185580358 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000474429 +1 known p.E52K 1.000 308 0% 269 35.3% 7 14.2% - - - superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase BRPF3 27154 genome.wustl.edu 37 6 36175108 36175108 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015695.2 +1 validated p.T542P 0.997 56 0% 72 22.2% 1 100% probably_damaging(0.992) tolerated(0.3) deleterious(0.476) NULL C6orf222 389384 genome.wustl.edu 37 6 36293129 36293129 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010903.4 -1 validated p.V367M 0.000 108 0% 87 26.4% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL C6orf222 389384 genome.wustl.edu 37 6 36294295 36294295 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010903.4 -1 validated p.S343N 0.144 135 0% 129 29.5% 0 - possibly_damaging(0.796) tolerated(0.17) neutral(0.358) NULL KCTD20 222658 genome.wustl.edu 37 6 36452493 36452493 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173562.3 +1 provisional p.L287I 1.000 312 0% 244 33.2% 4 0% benign(0) tolerated(1) - NULL STK38 11329 genome.wustl.edu 37 6 36492164 36492164 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007271.2 -1 provisional p.E87G 1.000 160 0% 132 40.9% 9 44.4% benign(0) deleterious(0.01) neutral(0.406) superfamily_Protein kinase-like (PK-like) SRSF3 6428 genome.wustl.edu 37 6 36564614 36564614 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003017.4 +1 validated p.E25 1.000 167 0% 194 38.1% 170 39.4% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD DNAH8 1769 genome.wustl.edu 37 6 38771021 38771021 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001371.2 +1 validated p.E773* 1.000 141 0% 126 38.1% 0 - - - - NULL DNAH8 1769 genome.wustl.edu 37 6 38821058 38821058 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001371.2 +1 validated p.A1673T 0.992 196 0% 213 45.1% 0 - probably_damaging(0.994) tolerated(0.13) deleterious(0.705) HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38831767 38831767 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001371.2 +1 validated p.K1926N 1.000 160 0% 155 27.7% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38838196 38838196 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001371.2 +1 validated p.L2066P 0.999 171 0% 151 28.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38851116 38851116 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001371.2 +1 validated p.E2457K 1.000 349 0% 394 11.9% 0 - probably_damaging(0.994) deleterious(0.05) deleterious(0.797) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38883093 38883093 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001371.2 +1 validated p.K3143N 0.185 91 0% 82 31.7% 0 - benign(0.025) tolerated(0.49) neutral(0.011) NULL DNAH8 1769 genome.wustl.edu 37 6 38891852 38891852 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001371.2 +1 validated p.D3409Y 1.000 331 0% 315 29.2% 0 - benign(0.257) deleterious(0.04) neutral(0.376) NULL GLP1R 2740 genome.wustl.edu 37 6 39046923 39046923 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002062.3 +1 validated p.I330 0.899 123 0% 91 31.9% 0 - - - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like KCNK5 8645 genome.wustl.edu 37 6 39162477 39162477 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003740.3 -1 reviewed p.L120I 1.000 122 0% 84 38.1% 7 28.5% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Ion_trans_2,superfamily_SSF81324 KIF6 221458 genome.wustl.edu 37 6 39325124 39325124 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000458470 -1 known p.S595L 0.000 95 0% 84 31% 0 - - - - NULL KIF6 221458 genome.wustl.edu 37 6 39328201 39328201 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000458470 -1 known p.S576F 0.989 105 0% 69 23.2% 0 - - - - NULL KIF6 221458 genome.wustl.edu 37 6 39507857 39507857 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145027.4 -1 validated p.R523* 0.000 435 0% 337 29.7% 0 - - - - NULL LRFN2 57497 genome.wustl.edu 37 6 40400033 40400033 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020737.1 -1 provisional p.R274C 0.995 46 0% 51 49% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00082,superfamily_L domain-like UNC5CL 222643 genome.wustl.edu 37 6 40998397 40998397 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173561.1 -1 provisional p.N406T 0.972 65 0% 48 22.9% 0 - possibly_damaging(0.916) tolerated(0.29) neutral(0.396) HMMSmart_DEATH,superfamily_DEATH_like TREM2 54209 genome.wustl.edu 37 6 41126472 41126472 + Nonsense_Mutation SNP C C A rs75272959 byCluster;byFrequency;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000373122 -1 known p.E177* 0.000 139 0% 99 33.3% 16 0% - - - NULL PRICKLE4 29964 genome.wustl.edu 37 6 41753867 41753867 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013397.5 +1 validated p.L195P 1.000 46 0% 32 53.1% 3 0% probably_damaging(0.995) tolerated(0.19) deleterious(0.507) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) USP49 25862 genome.wustl.edu 37 6 41766458 41766458 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018561.3 -1 provisional p.A627V 1.000 179 0% 109 30.3% 0 - possibly_damaging(0.811) tolerated(0.08) deleterious(0.605) NULL GUCA1A 2978 genome.wustl.edu 37 6 42141477 42141477 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000409.3 +1 reviewed p.F42L 1.000 176 0% 121 29.8% 0 - benign(0.017) tolerated(0.39) neutral(0.017) superfamily_EF-hand GUCA1B 2979 genome.wustl.edu 37 6 42162476 42162476 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002098.5 -1 reviewed p.F28C 1.000 118 0% 120 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF47473 TRERF1 55809 genome.wustl.edu 37 6 42224802 42224802 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033502.2 -1 reviewed p.P792L 1.000 122 0% 121 32.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ELM2 UBR2 23304 genome.wustl.edu 37 6 42604764 42604764 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015255.2 +1 reviewed p.E564K 1.000 268 0% 231 33.3% 4 0% benign(0.002) tolerated(0.39) neutral(0.016) NULL PRPH2 5961 genome.wustl.edu 37 6 42689589 42689589 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000322.4 -1 reviewed p.E162K 1.000 113 0% 152 34.2% 2 0% possibly_damaging(0.943) tolerated(0.07) deleterious(0.707) superfamily_Tetraspanin,HMMPfam_Tetraspannin PRPH2 5961 genome.wustl.edu 37 6 42689604 42689604 + Missense_Mutation SNP C C T rs61755787 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000322.4 -1 reviewed p.D157N 1.000 109 0% 142 32.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Tetraspanin,HMMPfam_Tetraspannin CUL7 9820 genome.wustl.edu 37 6 43010621 43010621 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014780.4 -1 reviewed p.G1188 1.000 93 0% 72 29.2% 25 68% - - - HMMPfam_Cullin CUL7 9820 genome.wustl.edu 37 6 43013766 43013766 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014780.4 -1 reviewed p.C908 0.758 125 0% 127 34.6% 19 31.5% - - - HMMPfam_APC10,superfamily_Gal_bind_like CUL7 9820 genome.wustl.edu 37 6 43016230 43016230 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014780.4 -1 reviewed p.L635I 0.153 364 0% 377 25.7% 9 33.3% benign(0.029) deleterious(0.03) neutral(0.366) NULL CUL7 9820 genome.wustl.edu 37 6 43019173 43019173 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014780.4 -1 reviewed p.R256W 1.000 173 0% 175 29.1% 5 20% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL KLC4 89953 genome.wustl.edu 37 6 43034200 43034200 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201523.1 +1 validated p.R261H 1.000 134 0% 162 32.1% 10 70% possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_Rab5-bind,superfamily_TPR-like CUL9 23113 genome.wustl.edu 37 6 43154149 43154149 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015089.2 +1 validated p.E403K 0.870 102 1% 114 14% 3 0% benign(0.017) deleterious(0) neutral(0.445) NULL CUL9 23113 genome.wustl.edu 37 6 43155626 43155626 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015089.2 +1 validated p.R586Q 0.171 188 0% 195 35.4% 3 0% benign(0.014) tolerated(0.39) neutral(0.017) NULL CUL9 23113 genome.wustl.edu 37 6 43160752 43160752 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015089.2 +1 validated p.K732E 1.000 135 0% 145 22.8% 3 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_ARM repeat CUL9 23113 genome.wustl.edu 37 6 43172205 43172205 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015089.2 +1 validated p.R1423C 0.998 380 0% 324 27.8% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cullin CUL9 23113 genome.wustl.edu 37 6 43181575 43181575 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015089.2 +1 validated p.L1871 0.998 124 0% 116 28.4% 7 28.5% - - - "superfamily_""Winged helix"" DNA-binding domain" SLC22A7 10864 genome.wustl.edu 37 6 43266324 43266324 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153320.2 +1 reviewed p.T76 0.005 27 0% 41 24.4% 0 - - - - NULL ZNF318 24149 genome.wustl.edu 37 6 43305994 43305994 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014345.2 -1 validated p.S1914 0.001 236 0.8% 235 24.7% 2 0% - - - NULL ZNF318 24149 genome.wustl.edu 37 6 43307069 43307069 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014345.2 -1 validated p.R1556Q 1.000 126 0% 123 36.6% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF318 24149 genome.wustl.edu 37 6 43308239 43308239 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014345.2 -1 validated p.K1166T 1.000 176 0% 198 34.8% 7 42.8% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00451,superfamily_C2H2 and C2HC zinc fingers XPO5 57510 genome.wustl.edu 37 6 43491716 43491716 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020750.2 -1 validated p.E1169* 1.000 128 0% 129 41.1% 40 37.5% - - - NULL XPO5 57510 genome.wustl.edu 37 6 43501658 43501658 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020750.2 -1 validated p.K810T 1.000 113 0% 114 28.9% 49 65.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_ARM repeat XPO5 57510 genome.wustl.edu 37 6 43521126 43521126 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020750.2 -1 validated p.R519Q 1.000 31 0% 41 39% 16 56.2% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) superfamily_ARM repeat VEGFA 7422 genome.wustl.edu 37 6 43738988 43738988 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001025366.2 +1 reviewed p.N182T 1.000 24 0% 12 50% 22 22.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HSP90AB1 3326 genome.wustl.edu 37 6 44217182 44217182 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007355.2 +1 provisional p.K72N 0.993 161 0% 157 28.7% 788 44% benign(0.35) tolerated(0.1) neutral(0.397) HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase HSP90AB1 3326 genome.wustl.edu 37 6 44221034 44221034 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007355.2 +1 provisional p.A662T 1.000 709 0% 592 27.9% 2241 40% possibly_damaging(0.706) deleterious(0) deleterious(0.699) HMMPfam_HSP90,superfamily_HSP90 C-terminal domain (C-terminal part of Pfam 00183) AARS2 57505 genome.wustl.edu 37 6 44274758 44274758 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020745.2 -1 validated p.R351C 1.000 88 0% 116 27.6% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ala-tRNA-synth_IIc_anticod-bd,HMMPfam_tRNA-synt_2c CDC5L 988 genome.wustl.edu 37 6 44374092 44374092 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001253.2 +1 reviewed p.K264T 1.000 245 0% 193 33.7% 7 57.1% benign(0) tolerated(0.13) neutral(0.253) NULL CYP39A1 51302 genome.wustl.edu 37 6 46604155 46604155 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016593.3 -1 reviewed p.A235S 0.017 101 0% 99 21.2% 3 0% benign(0.012) tolerated(0.69) neutral(0.003) superfamily_Cytochrome P450 SLC25A27 9481 genome.wustl.edu 37 6 46636508 46636508 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004277.3 +1 reviewed p.I228V 0.997 170 0% 138 34.1% 0 - benign(0.03) tolerated(0.5) neutral(0.011) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr TDRD6 221400 genome.wustl.edu 37 6 46657579 46657579 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010870.2 +1 validated p.R572* 0.997 179 0% 114 32.5% 0 - - - - HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748 TDRD6 221400 genome.wustl.edu 37 6 46661023 46661023 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010870.2 +1 validated p.L1720I 0.000 161 0% 114 30.7% 0 - possibly_damaging(0.89) tolerated(0.11) deleterious(0.621) NULL PLA2G7 7941 genome.wustl.edu 37 6 46678321 46678321 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005084.3 -1 reviewed p.K246N 0.921 343 0% 270 31.5% 26 0% benign(0.27) tolerated(0.63) neutral(0.033) HMMPfam_PAF-AH_p_II,superfamily_SSF53474 GPR116 221395 genome.wustl.edu 37 6 46826956 46826956 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098518.1 -1 validated p.S895L 0.901 169 0% 148 31.8% 7 0% possibly_damaging(0.856) tolerated(0.05) deleterious(0.676) NULL GPR116 221395 genome.wustl.edu 37 6 46851871 46851871 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098518.1 -1 validated p.E156* 0.687 172 0% 218 28% 0 - - - - NULL CD2AP 23607 genome.wustl.edu 37 6 47522496 47522496 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012120.2 +1 reviewed p.D179N 0.982 190 0% 148 37.8% 2 50% benign(0.196) tolerated(0.17) neutral(0.077) superfamily_SH3 GPR115 221393 genome.wustl.edu 37 6 47680184 47680184 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153838.3 +1 validated p.V131A 0.004 215 0% 154 37% 0 - benign(0.012) deleterious(0.03) neutral(0.365) NULL PTCHD4 442213 genome.wustl.edu 37 6 47846642 47846642 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013732.3 -1 validated p.S629 0.996 198 0% 163 32.5% 0 - - - - HMMPfam_Patched,superfamily_SSF82866 PTCHD4 442213 genome.wustl.edu 37 6 47846957 47846957 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013732.3 -1 validated p.L524 0.995 68 0% 55 38.2% 0 - - - - HMMPfam_Patched PTCHD4 442213 genome.wustl.edu 37 6 48036107 48036107 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398738 -1 known p.P95S 1.000 78 0% 68 30.9% 0 - - - - NULL CRISP1 167 genome.wustl.edu 37 6 49819777 49819777 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001131.2 -1 reviewed p.I44 0.000 291 0% 227 33% 0 - - - - HMMSmart_SM00198,superfamily_PR-1-like DEFB113 245927 genome.wustl.edu 37 6 49936496 49936496 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037729.1 -1 provisional p.S48N 0.000 44 0% 61 26.2% 0 - benign(0.025) deleterious(0.03) neutral(0.365) NULL TFAP2D 83741 genome.wustl.edu 37 6 50682922 50682922 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172238.3 +1 validated p.P45T 1.000 629 0.2% 496 29.8% 0 - possibly_damaging(0.818) deleterious(0.02) deleterious(0.692) NULL TFAP2B 7021 genome.wustl.edu 37 6 50807985 50807985 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003221.3 +1 reviewed p.R353* 1.000 230 0.4% 168 26.8% 0 - - - - HMMPfam_TF_AP-2 PKHD1 5314 genome.wustl.edu 37 6 51483896 51483896 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138694.3 -1 reviewed p.I4070V 0.006 279 0% 201 33.8% 0 - benign(0) deleterious(0) neutral(0.445) NULL PKHD1 5314 genome.wustl.edu 37 6 51612695 51612695 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138694.3 -1 reviewed p.R3240Q 0.998 262 0% 241 22.8% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL PKHD1 5314 genome.wustl.edu 37 6 51712731 51712731 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138694.3 -1 reviewed p.Y2650C 0.918 231 0% 266 29.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL PKHD1 5314 genome.wustl.edu 37 6 51720739 51720739 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138694.3 -1 reviewed p.E2621D 1.000 341 0% 284 30.3% 0 - benign(0.374) tolerated(0.13) neutral(0.371) NULL PKHD1 5314 genome.wustl.edu 37 6 51732827 51732827 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138694.3 -1 reviewed p.I2523L 0.991 163 0% 135 30.4% 0 - possibly_damaging(0.549) deleterious(0.04) deleterious(0.535) NULL PKHD1 5314 genome.wustl.edu 37 6 51768402 51768402 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138694.3 -1 reviewed p.V2330A 0.052 432 0% 308 33.1% 0 - benign(0.022) tolerated(0.14) neutral(0.251) HMMSmart_SM00710,superfamily_Pectin lyase-like PKHD1 5314 genome.wustl.edu 37 6 51771051 51771051 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138694.3 -1 reviewed p.N2257T 0.988 186 0% 215 22.3% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_SM00710,superfamily_Pectin lyase-like PKHD1 5314 genome.wustl.edu 37 6 51776733 51776733 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138694.3 -1 reviewed p.E2118 0.655 118 0% 121 30.6% 0 - - - - NULL PKHD1 5314 genome.wustl.edu 37 6 51799028 51799028 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138694.3 -1 reviewed p.E2001K 0.000 599 0% 466 29.2% 0 - benign(0) deleterious(0.01) neutral(0.406) HMMPfam_G8 PKHD1 5314 genome.wustl.edu 37 6 51890683 51890683 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138694.3 -1 reviewed p.E1309* 0.022 149 0% 135 26.7% 0 - - - - NULL PKHD1 5314 genome.wustl.edu 37 6 51949678 51949678 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138694.3 -1 reviewed e1+2 1.000 287 0% 214 21% 0 - - - - - MCM3 4172 genome.wustl.edu 37 6 52134005 52134005 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002388.3 -1 reviewed p.R616Q 1.000 170 0% 159 29.6% 99 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MCM,HMMSmart_MCM,superfamily_SSF52540 EFHC1 114327 genome.wustl.edu 37 6 52318900 52318900 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018100.3 +1 reviewed p.R244Q 1.000 109 0% 97 28.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00676 TRAM2 9697 genome.wustl.edu 37 6 52369461 52369461 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012288.3 -1 reviewed p.N323D 0.994 16 0% 21 38.1% 2 0% benign(0.002) tolerated(0.62) neutral(0.004) NULL TMEM14A 28978 genome.wustl.edu 37 6 52546669 52546669 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014051.3 +1 validated p.A43 1.000 161 0% 125 28.8% 71 29.5% - - - HMMPfam_Tmemb_14 GSTA2 2939 genome.wustl.edu 37 6 52616394 52616394 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000846.4 -1 reviewed p.S176Y 0.909 344 0% 345 13.6% 0 - possibly_damaging(0.78) deleterious(0) deleterious(0.736) HMMPfam_GST_C,superfamily_GST_C_like GSTA2 2939 genome.wustl.edu 37 6 52617675 52617675 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000846.4 -1 reviewed p.R131C 0.573 780 0% 770 28.8% 1 100% possibly_damaging(0.803) deleterious(0.02) deleterious(0.685) HMMPfam_GST_C,superfamily_GST_C_like GSTA3 2940 genome.wustl.edu 37 6 52764863 52764863 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000847.4 -1 reviewed p.Y95H 1.000 519 0% 528 16.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Glutathione S-transferase (GST) C-terminal domain ICK 22858 genome.wustl.edu 37 6 52871165 52871165 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014920.3 -1 reviewed p.I564 0.000 182 0% 156 32.7% 7 57.1% - - - NULL KLHL31 401265 genome.wustl.edu 37 6 53519933 53519933 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003760.4 -1 validated p.I46M 1.000 64 0% 56 23.2% 0 - benign(0.022) deleterious(0.01) neutral(0.407) NULL LRRC1 55227 genome.wustl.edu 37 6 53706968 53706968 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018214.4 +1 validated p.L74F 1.000 163 0% 112 25% 11 63.6% possibly_damaging(0.561) deleterious(0) deleterious(0.636) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like LRRC1 55227 genome.wustl.edu 37 6 53761329 53761329 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018214.4 +1 validated p.E160D 1.000 212 0% 223 27.4% 12 100% benign(0.102) tolerated(0.18) neutral(0.064) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like LRRC1 55227 genome.wustl.edu 37 6 53784468 53784468 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018214.4 +1 validated p.E427K 1.000 215 0% 149 30.9% 31 0% benign(0.005) tolerated(0.17) neutral(0.059) NULL MLIP 90523 genome.wustl.edu 37 6 53989330 53989330 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138569.2 +1 validated p.A93 0.004 150 0% 166 33.1% 1 0% - - - NULL TINAG 27283 genome.wustl.edu 37 6 54173575 54173575 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014464.3 +1 validated p.A76V 0.998 924 0% 922 30.7% 3 0% benign(0.024) tolerated(0.11) neutral(0.273) HMMSmart_SM00201 FAM83B 222584 genome.wustl.edu 37 6 54792313 54792313 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010872.1 +1 validated p.R206Q 1.000 137 0% 143 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1669,superfamily_SSF56024 FAM83B 222584 genome.wustl.edu 37 6 54804590 54804590 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010872.1 +1 validated p.R274I 1.000 191 0% 189 28% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1669,superfamily_SSF56024 HCRTR2 3062 genome.wustl.edu 37 6 55113538 55113538 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001526.3 +1 reviewed p.P109S 1.000 392 0% 402 31.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 GFRAL 389400 genome.wustl.edu 37 6 55198632 55198632 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207410.2 +1 validated p.S69I 0.006 345 0% 284 28.5% 0 - benign(0.414) deleterious(0.01) deleterious(0.540) NULL GFRAL 389400 genome.wustl.edu 37 6 55264040 55264040 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207410.2 +1 validated p.I339L 0.007 122 0% 106 32.1% 0 - possibly_damaging(0.585) deleterious(0) deleterious(0.646) NULL HMGCLL1 54511 genome.wustl.edu 37 6 55378862 55378862 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019036.2 -1 validated p.N206H 0.996 121 0% 110 14.5% 0 - benign(0.115) deleterious(0.05) neutral(0.354) HMMPfam_HMGL-like,superfamily_Aldolase HMGCLL1 54511 genome.wustl.edu 37 6 55378892 55378892 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019036.2 -1 validated p.E196* 1.000 125 0% 89 33.7% 0 - - - - HMMPfam_HMGL-like,superfamily_Aldolase BMP5 653 genome.wustl.edu 37 6 55620456 55620456 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021073.2 -1 reviewed p.V414I 1.000 243 0% 252 25.4% 0 - possibly_damaging(0.509) tolerated(0.05) deleterious(0.516) HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 DST 667 genome.wustl.edu 37 6 56329546 56329546 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000370769 -1 known p.H7330N 1.000 50 0% 37 32.4% 0 - probably_damaging(0.983) - - NULL DST 667 genome.wustl.edu 37 6 56373398 56373398 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015548.4 -1 reviewed p.D3767Y 1.000 302 0% 265 34% 2 0% probably_damaging(0.996) - - HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56425171 56425171 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015548.4 -1 reviewed p.K2164N 1.000 38 0% 36 25% 0 - probably_damaging(1) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56458647 56458647 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015548.4 -1 reviewed p.F1557 1.000 619 0% 451 26.4% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56473826 56473826 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000370769 -1 known p.S1656F 0.322 321 0% 293 32.4% 0 - possibly_damaging(0.931) deleterious(0.03) deleterious(0.742) superfamily_Plakin repeat DST 667 genome.wustl.edu 37 6 56480383 56480383 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001723.5 -1 reviewed p.G2628* 1.000 179 0% 168 32.1% 0 - - - - HMMSmart_PLEC,superfamily_SSF75399 KIAA1586 57691 genome.wustl.edu 37 6 56918176 56918176 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020931.2 +1 validated p.E293D 0.994 133 0% 142 29.6% 3 33.3% benign(0.085) tolerated(0.54) neutral(0.013) NULL KIAA1586 57691 genome.wustl.edu 37 6 56918634 56918634 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020931.2 +1 validated p.K446T 1.000 102 0% 91 29.7% 0 - benign(0.104) tolerated(0.91) neutral(0.008) NULL KIAA1586 57691 genome.wustl.edu 37 6 56919214 56919214 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020931.2 +1 validated p.W639* 0.994 125 0% 81 30.9% 2 50% - - - NULL ZNF451 26036 genome.wustl.edu 37 6 57011898 57011898 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031623.2 +1 validated p.R339* 1.000 137 0% 102 32.4% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF451 26036 genome.wustl.edu 37 6 57025942 57025942 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031623.2 +1 validated p.S1044Y 1.000 173 0% 133 29.3% 7 0% possibly_damaging(0.604) deleterious(0.02) deleterious(0.593) NULL RAB23 51715 genome.wustl.edu 37 6 57072428 57072428 + Missense_Mutation SNP C C T rs145669565 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016277.3 -1 reviewed p.R80Q 1.000 277 0% 205 29.3% 5 40% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PRIM2 5558 genome.wustl.edu 37 6 57398241 57398241 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000425433 +1 known p.G315D 1.000 365 0% 371 11.6% 16 0% - - - HMMPfam_DNA_primase_lrg FKBP1C 642489 genome.wustl.edu 37 6 63921566 63921566 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000370659 +1 known p.K35N 0.984 63 0% 74 25.7% 62 0% benign(0.002) tolerated(0.1) neutral(0.286) HMMPfam_FKBP_C,superfamily_SSF54534 LGSN 51557 genome.wustl.edu 37 6 63995571 63995571 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016571.2 -1 reviewed p.R84H 1.000 69 0% 54 20.4% 0 - benign(0.004) tolerated(0.59) neutral(0.004) superfamily_Glutamine synthetase N-terminal domain PHF3 23469 genome.wustl.edu 37 6 64389964 64389964 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015153.2 +1 provisional p.D103A 1.000 306 0% 328 30.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PHF3 23469 genome.wustl.edu 37 6 64394170 64394170 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015153.2 +1 provisional p.E183* 1.000 286 0% 298 27.2% 1 0% - - - NULL PHF3 23469 genome.wustl.edu 37 6 64394801 64394801 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015153.2 +1 provisional p.R393I 0.002 110 0% 157 31.2% 1 0% possibly_damaging(0.667) tolerated(0.08) deleterious(0.536) NULL PHF3 23469 genome.wustl.edu 37 6 64421836 64421836 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015153.2 +1 provisional p.E1451A 1.000 299 0% 245 25.7% 2 0% possibly_damaging(0.621) deleterious(0) deleterious(0.661) NULL EYS 346007 genome.wustl.edu 37 6 66054027 66054027 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142800.1 -1 reviewed p.F501L 0.001 184 0% 132 34.8% 0 - benign(0) tolerated(0.66) neutral(0.003) NULL EYS 346007 genome.wustl.edu 37 6 66204997 66204997 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142800.1 -1 reviewed p.L103V 0.991 138 0% 114 32.5% 0 - probably_damaging(0.991) tolerated(0.11) deleterious(0.716) NULL BAI3 577 genome.wustl.edu 37 6 69348941 69348941 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed p.K125T 1.000 154 0% 93 26.9% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL BAI3 577 genome.wustl.edu 37 6 69349037 69349037 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed p.V157A 1.000 162 0% 116 34.5% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL BAI3 577 genome.wustl.edu 37 6 69646410 69646410 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed e3-1 1.000 24 0% 19 31.6% 0 - - - - - BAI3 577 genome.wustl.edu 37 6 69666549 69666549 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed p.W458L 1.000 218 0% 217 33.2% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat BAI3 577 genome.wustl.edu 37 6 69684663 69684663 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed p.E512* 1.000 98 0% 93 28% 0 - - - - HMMPfam_HRM,HMMSmart_SM00008 BAI3 577 genome.wustl.edu 37 6 69684706 69684706 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed p.R526I 1.000 99 0% 101 34.7% 0 - benign(0.378) deleterious(0.01) deleterious(0.526) HMMPfam_HRM,HMMSmart_SM00008 BAI3 577 genome.wustl.edu 37 6 69703661 69703661 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed p.I579N 1.000 775 0% 580 24% 0 - possibly_damaging(0.815) deleterious(0.01) deleterious(0.713) NULL BAI3 577 genome.wustl.edu 37 6 69758087 69758087 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed p.I706M 1.000 166 0% 94 24.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BAI3 577 genome.wustl.edu 37 6 69772894 69772894 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed p.S801L 0.997 159 0% 140 30% 0 - possibly_damaging(0.659) tolerated(0.06) deleterious(0.555) NULL BAI3 577 genome.wustl.edu 37 6 69949045 69949045 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed p.L914R 1.000 212 0% 171 25.1% 0 - probably_damaging(0.991) tolerated(0.09) deleterious(0.740) HMMPfam_7tm_2 BAI3 577 genome.wustl.edu 37 6 70040426 70040426 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed p.L1022I 1.000 70 0% 38 31.6% 0 - benign(0.122) tolerated(0.58) neutral(0.015) HMMPfam_7tm_2 BAI3 577 genome.wustl.edu 37 6 70064192 70064192 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001704.2 +1 reviewed p.S1176L 1.000 246 0% 206 29.6% 0 - possibly_damaging(0.512) deleterious(0) deleterious(0.617) NULL COL19A1 1310 genome.wustl.edu 37 6 70639519 70639519 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001858.4 +1 reviewed p.D198A 0.006 261 0% 255 31.4% 0 - unknown(0) tolerated(0.13) - HMMSmart_TSPN,superfamily_ConA_like_lec_gl COL9A1 1297 genome.wustl.edu 37 6 71004009 71004009 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001851.4 -1 reviewed p.G186D 0.113 306 0% 318 25.2% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMSmart_TSPN,superfamily_ConA_like_lec_gl OGFRL1 79627 genome.wustl.edu 37 6 72006462 72006462 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024576.3 +1 validated p.K212Q 1.000 185 0% 144 33.3% 8 37.5% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_OGFr_N RIMS1 22999 genome.wustl.edu 37 6 72947569 72947569 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014989.4 +1 reviewed p.F634S 1.000 116 0% 108 24.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like RIMS1 22999 genome.wustl.edu 37 6 72957802 72957802 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014989.4 +1 reviewed p.A738V 1.000 175 0% 155 21.9% 0 - benign(0.097) tolerated(0.65) neutral(0.010) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RIMS1 22999 genome.wustl.edu 37 6 72960715 72960715 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014989.4 +1 reviewed p.D822Y 1.000 27 0% 13 30.8% 0 - possibly_damaging(0.903) deleterious(0) deleterious(0.802) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RIMS1 22999 genome.wustl.edu 37 6 72967974 72967974 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014989.4 +1 reviewed p.P973T 1.000 54 0% 37 35.1% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL RIMS1 22999 genome.wustl.edu 37 6 73043353 73043353 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014989.4 +1 reviewed p.S1394F 1.000 62 0% 60 26.7% 0 - benign(0.023) deleterious(0) neutral(0.446) NULL KCNQ5 56479 genome.wustl.edu 37 6 73713632 73713632 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019842.3 +1 reviewed p.F134V 1.000 106 0% 85 37.6% 0 - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) superfamily_Voltage-gated potassium channels KCNQ5 56479 genome.wustl.edu 37 6 73751711 73751711 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019842.3 +1 reviewed p.S181Y 1.000 415 0% 409 30.6% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KCNQ5 56479 genome.wustl.edu 37 6 73904619 73904619 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019842.3 +1 reviewed p.P761S 0.998 171 0% 160 43.1% 0 - benign(0) tolerated(0.54) neutral(0.007) NULL KCNQ5 56479 genome.wustl.edu 37 6 73904746 73904746 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019842.3 +1 reviewed p.S803Y 0.843 205 0% 162 19.1% 0 - possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL KCNQ5 56479 genome.wustl.edu 37 6 73904824 73904824 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019842.3 +1 reviewed p.S829Y 1.000 157 0% 129 30.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL KCNQ5 56479 genome.wustl.edu 37 6 73904956 73904956 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019842.3 +1 reviewed p.D873G 1.000 153 0% 140 31.4% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL OOEP 441161 genome.wustl.edu 37 6 74079335 74079335 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080507.2 -1 validated p.E61K 0.000 119 0% 133 24.1% 0 - benign(0) tolerated(0.79) neutral(0.001) NULL MB21D1 115004 genome.wustl.edu 37 6 74138494 74138494 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138441.2 -1 validated p.E385D 0.002 102 0% 117 33.3% 1 0% benign(0.003) tolerated(0.68) neutral(0.002) NULL MB21D1 115004 genome.wustl.edu 37 6 74150022 74150022 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138441.2 -1 validated p.N342H 0.000 220 0% 226 33.6% 4 0% benign(0.002) tolerated(0.31) neutral(0.027) NULL MB21D1 115004 genome.wustl.edu 37 6 74155384 74155384 + Nonsense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138441.2 -1 validated p.Y248* 0.729 109 0% 99 22.2% 1 0% - - - NULL MTO1 25821 genome.wustl.edu 37 6 74201960 74201960 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001123226.1 +1 reviewed p.A587 1.000 106 0% 118 36.4% 9 77.7% - - - NULL COL12A1 1303 genome.wustl.edu 37 6 75834943 75834943 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004370.5 -1 reviewed p.Y2169 0.994 113 0% 85 28.2% 29 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III COL12A1 1303 genome.wustl.edu 37 6 75884892 75884892 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004370.5 -1 reviewed p.E858* 1.000 186 0% 175 29.1% 3 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III COL12A1 1303 genome.wustl.edu 37 6 75902057 75902057 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004370.5 -1 reviewed p.E69* 1.000 108 0% 73 34.2% 5 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FILIP1 27145 genome.wustl.edu 37 6 76022250 76022250 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015687.2 -1 validated p.E1100K 0.967 359 0.3% 341 28.7% 0 - possibly_damaging(0.701) tolerated(0.2) neutral(0.301) NULL SENP6 26054 genome.wustl.edu 37 6 76373065 76373065 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015571.2 +1 validated p.F275L 1.000 124 0% 137 26.3% 10 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MYO6 4646 genome.wustl.edu 37 6 76545649 76545649 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004999.3 +1 reviewed p.D177Y 1.000 166 0% 108 35.2% 6 16.6% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO6 4646 genome.wustl.edu 37 6 76558214 76558214 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004999.3 +1 reviewed p.G348 1.000 161 0% 105 22.9% 7 42.8% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO6 4646 genome.wustl.edu 37 6 76624584 76624584 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004999.3 +1 reviewed p.R1238Q 1.000 94 0% 72 29.2% 53 52.8% unknown(0) deleterious(0.01) - NULL IMPG1 3617 genome.wustl.edu 37 6 76640782 76640782 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001563.2 -1 provisional p.R711C 1.000 86 0% 53 28.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL IMPG1 3617 genome.wustl.edu 37 6 76660408 76660408 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001563.2 -1 provisional p.T565 0.281 109 0% 92 10.9% 0 - - - - superfamily_SSF82671 LCA5 167691 genome.wustl.edu 37 6 80197139 80197139 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122769.2 -1 reviewed p.S559L 1.000 218 0% 191 28.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM46A 55603 genome.wustl.edu 37 6 82459482 82459482 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017633.2 -1 validated p.Y420C 1.000 122 0% 124 25.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM46A 55603 genome.wustl.edu 37 6 82459966 82459966 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017633.2 -1 validated p.I259L 0.996 91 0% 98 21.4% 0 - benign(0.418) deleterious(0.01) deleterious(0.541) HMMPfam_DUF1693 DOPEY1 23033 genome.wustl.edu 37 6 83855291 83855291 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015018.2 +1 validated p.R1864C 1.000 90 0% 85 30.6% 6 66.6% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL PGM3 5238 genome.wustl.edu 37 6 83885778 83885778 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015599.1 -1 provisional p.V344A 1.000 105 1% 78 26.9% 17 29.4% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_Phosphoglucomutase first 3 domains PGM3 5238 genome.wustl.edu 37 6 83889564 83889564 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015599.1 -1 provisional p.L304 0.470 137 0% 103 28.2% 20 55% - - - superfamily_Phosphoglucomutase first 3 domains ME1 4199 genome.wustl.edu 37 6 83926243 83926243 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002395.4 -1 reviewed p.D508N 0.999 138 0% 146 22.6% 1 0% benign(0.001) tolerated(0.22) neutral(0.042) HMMPfam_Malic_M,superfamily_NAD(P)-bd ME1 4199 genome.wustl.edu 37 6 83949287 83949287 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002395.4 -1 reviewed p.Q295K 1.000 177 0% 113 32.7% 0 - benign(0.044) deleterious(0.01) neutral(0.408) HMMPfam_Malic_M,superfamily_NAD(P)-bd ME1 4199 genome.wustl.edu 37 6 84108193 84108193 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002395.4 -1 reviewed p.L85 0.995 201 0% 176 31.2% 0 - - - - HMMPfam_malic,superfamily_SSF53223 PRSS35 167681 genome.wustl.edu 37 6 84234029 84234029 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153362.2 +1 validated p.Y290C 1.000 168 0% 159 23.9% 0 - probably_damaging(0.985) deleterious(0.04) deleterious(0.781) HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys PRSS35 167681 genome.wustl.edu 37 6 84234198 84234198 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153362.2 +1 validated p.T346 0.014 175 0% 146 24.7% 0 - - - - HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SNAP91 9892 genome.wustl.edu 37 6 84333037 84333037 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014841.2 -1 validated p.I264V 1.000 39 0% 39 28.2% 0 - benign(0.003) deleterious(0.01) neutral(0.406) HMMPfam_ANTH,superfamily_GAT-like domain KIAA1009 22832 genome.wustl.edu 37 6 84925113 84925113 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014895.2 -1 validated p.E130 0.998 82 0% 48 37.5% 0 - - - - NULL TBX18 9096 genome.wustl.edu 37 6 85446835 85446835 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080508.1 -1 provisional p.T464 0.885 112 0% 89 23.6% 1 0% - - - NULL SNX14 57231 genome.wustl.edu 37 6 86216939 86216939 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000508658 -1 known p.S177I 0.158 72 0% 49 22.4% 1 100% benign(0.016) tolerated(0.29) neutral(0.030) NULL HTR1E 3354 genome.wustl.edu 37 6 87725332 87725332 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000865.2 +1 validated p.L94I 0.983 285 0% 274 33.2% 0 - benign(0) tolerated(0.37) neutral(0.019) HMMPfam_7tm_1,superfamily_SSF81321 ZNF292 23036 genome.wustl.edu 37 6 87964707 87964707 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015021.1 +1 validated p.R454* 1.000 162 0% 140 32.9% 0 - - - - NULL ZNF292 23036 genome.wustl.edu 37 6 87967509 87967509 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015021.1 +1 validated p.R1388G 1.000 182 0% 179 34.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF292 23036 genome.wustl.edu 37 6 87969691 87969691 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015021.1 +1 validated p.R2115Q 1.000 202 0% 186 36% 6 50% benign(0.299) tolerated(0.12) neutral(0.353) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF292 23036 genome.wustl.edu 37 6 87971291 87971291 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015021.1 +1 validated p.S2648 0.998 85 0% 79 24.1% 8 62.5% - - - NULL SLC35A1 10559 genome.wustl.edu 37 6 88187148 88187148 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006416.4 +1 reviewed p.I29V 0.908 138 0% 129 27.9% 1 100% benign(0) tolerated(0.27) neutral(0.034) superfamily_SSF103481 SLC35A1 10559 genome.wustl.edu 37 6 88210273 88210273 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006416.4 +1 reviewed p.V81A 1.000 191 0% 134 29.9% 5 80% benign(0.064) deleterious(0) neutral(0.449) HMMPfam_Nuc_sug_transp,superfamily_SSF103481 ORC3 23595 genome.wustl.edu 37 6 88326097 88326097 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181837.1 +1 reviewed p.I313 1.000 54 0% 37 18.9% 9 55.5% - - - HMMPfam_ORC3_N CNR1 1268 genome.wustl.edu 37 6 88853737 88853737 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016083.4 -1 reviewed p.A419 0.004 159 0% 165 25.5% 0 - - - - NULL RNGTT 8732 genome.wustl.edu 37 6 89322511 89322511 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003800.3 -1 validated p.R574Q 1.000 307 0% 260 31.5% 10 0% probably_damaging(0.988) tolerated(0.65) neutral(0.441) superfamily_Nucleic acid-binding proteins SRSF12 135295 genome.wustl.edu 37 6 89814971 89814971 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080743.4 -1 validated p.Q95* 1.000 55 0% 70 34.3% 4 0% - - - superfamily_SSF54928 ANKRD6 22881 genome.wustl.edu 37 6 90338878 90338878 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000415924 +1 known p.E425* 1.000 106 0% 110 26.4% 3 0% possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL MDN1 23195 genome.wustl.edu 37 6 90406124 90406124 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014611.1 -1 provisional p.S3113L 0.996 64 0% 54 25.9% 0 - benign(0.001) tolerated(0.33) neutral(0.024) NULL MDN1 23195 genome.wustl.edu 37 6 90442323 90442323 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014611.1 -1 provisional p.S1632F 1.000 220 0% 227 23.8% 0 - possibly_damaging(0.915) tolerated(0.12) deleterious(0.627) superfamily_P-loop containing nucleoside triphosphate hydrolases GJA10 84694 genome.wustl.edu 37 6 90605563 90605563 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032602.1 +1 validated p.D459G 0.053 533 0% 409 30.8% 0 - benign(0.001) tolerated(0.4) neutral(0.016) NULL BACH2 60468 genome.wustl.edu 37 6 90661252 90661252 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021813.2 -1 validated p.S191R 0.787 169 0% 138 29% 0 - benign(0.261) deleterious(0.01) neutral(0.433) NULL EPHA7 2045 genome.wustl.edu 37 6 93956553 93956553 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004440.3 -1 reviewed p.R895* 1.000 239 0% 181 31.5% 2 0% - - - superfamily_Protein kinase-like (PK-like) FUT9 10690 genome.wustl.edu 37 6 96651363 96651363 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006581.3 +1 validated p.R111Q 1.000 159 0% 128 38.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Glyco_transf_10 FUT9 10690 genome.wustl.edu 37 6 96651507 96651507 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006581.3 +1 validated p.R159H 1.000 139 0% 94 26.6% 0 - possibly_damaging(0.826) tolerated(0.07) deleterious(0.633) HMMPfam_Glyco_transf_10 FUT9 10690 genome.wustl.edu 37 6 96651543 96651543 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006581.3 +1 validated p.L171S 1.000 128 0% 91 24.2% 0 - benign(0.335) deleterious(0.03) deleterious(0.470) HMMPfam_Glyco_transf_10 FUT9 10690 genome.wustl.edu 37 6 96651992 96651992 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006581.3 +1 validated p.D321N 0.997 154 0% 97 25.8% 0 - benign(0.004) tolerated(0.27) neutral(0.034) HMMPfam_Glyco_transf_10 UFL1 23376 genome.wustl.edu 37 6 96990853 96990853 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015323.4 +1 validated p.D455Y 1.000 168 0% 180 31.1% 3 100% possibly_damaging(0.584) deleterious(0.02) deleterious(0.584) NULL UFL1 23376 genome.wustl.edu 37 6 96996156 96996156 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015323.4 +1 validated p.K507Q 1.000 106 0% 101 28.7% 7 14.2% benign(0.174) tolerated(0.31) neutral(0.043) NULL FHL5 9457 genome.wustl.edu 37 6 97058496 97058496 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020482.4 +1 reviewed p.E185* 1.000 238 0% 191 26.2% 0 - - - - HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 MMS22L 253714 genome.wustl.edu 37 6 97679520 97679520 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198468.2 -1 predicted p.S437 1.000 83 0% 70 25.7% 0 - - - - NULL COQ3 51805 genome.wustl.edu 37 6 99817482 99817482 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017421.3 -1 validated p.K368N 0.960 271 0.4% 262 29% 10 90% probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL PNISR 25957 genome.wustl.edu 37 6 99856007 99856007 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015491.1 -1 validated p.E272K 0.449 179 0% 138 32.6% 13 7.6% unknown(0) tolerated(0.82) - NULL USP45 85015 genome.wustl.edu 37 6 99883677 99883677 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080481.1 -1 provisional p.V787G 1.000 197 0% 170 23.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases USP45 85015 genome.wustl.edu 37 6 99912980 99912980 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080481.1 -1 provisional p.I380M 1.000 216 0% 128 28.1% 0 - probably_damaging(0.958) deleterious(0.02) deleterious(0.784) HMMPfam_UCH,superfamily_Cysteine proteinases PRDM13 59336 genome.wustl.edu 37 6 100055065 100055065 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000359773 +1 known p.I52S 0.006 37 0% 41 17.1% 0 - benign(0.382) deleterious(0) deleterious(0.567) NULL MCHR2 84539 genome.wustl.edu 37 6 100403908 100403908 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040179.1 -1 validated p.S39F 1.000 179 0% 141 12.1% 0 - benign(0.003) tolerated(0.13) neutral(0.253) superfamily_SSF81321 SIM1 6492 genome.wustl.edu 37 6 100838366 100838366 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005068.2 -1 reviewed p.S724 0.383 245 0% 162 43.2% 0 - - - - NULL ASCC3 10973 genome.wustl.edu 37 6 101296284 101296284 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006828.2 -1 validated p.E181K 1.000 149 0% 144 32.6% 2 100% possibly_damaging(0.512) tolerated(0.54) neutral(0.179) NULL BVES 11149 genome.wustl.edu 37 6 105573276 105573276 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007073.3 -1 reviewed p.L177M 0.981 215 0% 128 28.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Popeye,superfamily_cAMP-binding domain-like POPDC3 64208 genome.wustl.edu 37 6 105607601 105607601 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022361.4 -1 reviewed p.E193D 1.000 67 0% 62 24.2% 0 - probably_damaging(0.987) tolerated(0.33) neutral(0.461) HMMPfam_Popeye,superfamily_cAMP-binding domain-like PREP 5550 genome.wustl.edu 37 6 105800891 105800891 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002726.3 -1 reviewed p.R260Q 0.998 320 0% 306 25.8% 36 38.8% possibly_damaging(0.93) tolerated(0.34) neutral(0.400) HMMPfam_Peptidase_S9_N,superfamily_Peptidase_S9A_N PREP 5550 genome.wustl.edu 37 6 105845794 105845794 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002726.3 -1 reviewed p.D18 1.000 156 0% 170 39.4% 17 52.9% - - - HMMPfam_Peptidase_S9_N,superfamily_Peptidase_S9A_N PRDM1 639 genome.wustl.edu 37 6 106553388 106553388 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001198.3 +1 reviewed p.L451 0.000 82 0% 83 34.9% 8 0% - - - NULL RTN4IP1 84816 genome.wustl.edu 37 6 107031270 107031270 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032730.4 -1 reviewed p.R339H 1.000 34 0% 31 29% 22 36.3% benign(0.164) tolerated(0.19) neutral(0.065) superfamily_NAD(P)-binding Rossmann-fold domains BEND3 57673 genome.wustl.edu 37 6 107391627 107391627 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080450.2 -1 validated p.I256 0.982 25 0% 28 35.7% 4 25% - - - NULL SEC63 11231 genome.wustl.edu 37 6 108227909 108227909 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007214.4 -1 reviewed p.T269M 0.995 425 0% 307 29% 33 30.3% possibly_damaging(0.496) deleterious(0) deleterious(0.610) HMMPfam_Sec63,HMMSmart_SEC63 FOXO3 2309 genome.wustl.edu 37 6 108985322 108985322 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001455.3 +1 reviewed p.S429Y 0.999 225 0% 203 29.1% 8 37.5% benign(0.313) deleterious(0.03) neutral(0.462) NULL SESN1 27244 genome.wustl.edu 37 6 109315798 109315798 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014454.1 -1 provisional p.F329L 0.998 96 0% 85 25.9% 16 50% benign(0) tolerated(0.8) neutral(0.001) HMMPfam_PA26 PPIL6 285755 genome.wustl.edu 37 6 109748082 109748082 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173672.4 -1 validated p.R200Q 0.998 369 0% 345 61.7% 10 100% probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like FIG4 9896 genome.wustl.edu 37 6 110037745 110037745 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014845.5 +1 reviewed p.R88Q 1.000 311 0% 221 30.8% 3 0% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL GPR6 2830 genome.wustl.edu 37 6 110301235 110301235 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005284.3 +1 validated p.P307L 1.000 67 1.5% 75 21.3% 0 - possibly_damaging(0.521) tolerated(0.2) neutral(0.224) HMMPfam_7tm_1,superfamily_SSF81321 CDC40 51362 genome.wustl.edu 37 6 110536510 110536510 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015891.2 +1 reviewed p.R322W 1.000 153 0% 123 26.8% 12 41.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 DDO 8528 genome.wustl.edu 37 6 110736704 110736704 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003649.2 -1 reviewed p.F16V 0.247 95 0% 69 21.7% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL REV3L 5980 genome.wustl.edu 37 6 111698985 111698985 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002912.3 -1 validated p.E506* 1.000 118 0% 104 30.8% 0 - - - - superfamily_Ribonuclease H-like LAMA4 3910 genome.wustl.edu 37 6 112437132 112437132 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105206.1 -1 reviewed p.S1682 0.046 410 0% 325 27.4% 62 0% - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 RFPL4B 442247 genome.wustl.edu 37 6 112671283 112671283 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013734.2 +1 validated p.D125N 0.000 110 0% 94 26.6% 0 - benign(0) tolerated(0.57) neutral(0.006) HMMSmart_PRY RFPL4B 442247 genome.wustl.edu 37 6 112671668 112671668 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013734.2 +1 validated p.G253E 0.000 134 0% 105 22.9% 0 - probably_damaging(0.99) tolerated(0.06) deleterious(0.764) NULL HDAC2 3066 genome.wustl.edu 37 6 114274479 114274479 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001527.3 -1 reviewed p.K295E 1.000 289 0% 237 26.2% 147 53% possibly_damaging(0.92) deleterious(0) deleterious(0.816) HMMPfam_Hist_deacetyl,superfamily_SSF52768 HS3ST5 222537 genome.wustl.edu 37 6 114378489 114378489 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153612.3 -1 validated p.R325C 1.000 200 0% 190 32.1% 0 - benign(0.002) deleterious(0.04) neutral(0.349) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases HS3ST5 222537 genome.wustl.edu 37 6 114378706 114378706 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153612.3 -1 validated p.V252 0.305 221 0% 229 32.3% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases FRK 2444 genome.wustl.edu 37 6 116289827 116289827 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002031.2 -1 reviewed p.R181I 0.000 322 0% 193 34.2% 1 100% benign(0) tolerated(0.5) neutral(0.010) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 FRK 2444 genome.wustl.edu 37 6 116289833 116289833 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002031.2 -1 reviewed p.R179Q 0.001 317 0% 193 26.4% 1 0% benign(0.035) tolerated(0.66) neutral(0.005) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 FRK 2444 genome.wustl.edu 37 6 116381176 116381176 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002031.2 -1 reviewed p.I100T 1.000 439 0% 396 30.1% 3 100% probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 NT5DC1 221294 genome.wustl.edu 37 6 116542303 116542303 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152729.2 +1 reviewed p.R206* 0.174 159 0% 112 17% 26 0% - - - HMMPfam_5_nucleotid FAM26F 441168 genome.wustl.edu 37 6 116784509 116784509 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010919.1 +1 predicted p.R197* 0.001 325 0% 211 30.8% 14 0% - - - NULL RSPH4A 345895 genome.wustl.edu 37 6 116938316 116938316 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010892.2 +1 reviewed p.R177I 0.019 253 0% 212 30.7% 1 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL ZUFSP 221302 genome.wustl.edu 37 6 116988270 116988270 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145062.2 -1 validated p.I29S 0.950 143 0% 125 28% 2 50% benign(0.069) tolerated(0.21) neutral(0.048) HMMSmart_SM00355 KPNA5 3841 genome.wustl.edu 37 6 117019946 117019946 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002269.2 +1 reviewed p.E140D 0.937 70 0% 61 31.1% 0 - benign(0) tolerated(1) - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ROS1 6098 genome.wustl.edu 37 6 117609954 117609954 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002944.2 -1 reviewed p.D2249N 0.000 103 0% 84 22.6% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL ROS1 6098 genome.wustl.edu 37 6 117641093 117641093 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002944.2 -1 reviewed p.Y1960H 1.000 263 0% 221 33.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP ROS1 6098 genome.wustl.edu 37 6 117677962 117677962 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002944.2 -1 reviewed p.R1324M 0.000 349 0% 339 33.3% 0 - benign(0.029) deleterious(0.01) neutral(0.407) superfamily_SSF63825 ROS1 6098 genome.wustl.edu 37 6 117718123 117718123 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002944.2 -1 reviewed p.R245I 1.000 367 0% 293 29% 0 - possibly_damaging(0.66) tolerated(0.1) deleterious(0.519) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like DCBLD1 285761 genome.wustl.edu 37 6 117842709 117842709 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173674.1 +1 provisional p.R161Q 1.000 70 0% 58 32.8% 11 36.3% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain GOPC 57120 genome.wustl.edu 37 6 117896453 117896453 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020399.2 -1 validated p.V179 1.000 119 0% 127 29.9% 12 66.6% - - - NULL CEP85L 387119 genome.wustl.edu 37 6 118844998 118844998 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042475.2 -1 validated p.G369E 1.000 212 0.5% 120 35.8% 0 - probably_damaging(1) tolerated(0.2) deleterious(0.549) NULL FAM184A 79632 genome.wustl.edu 37 6 119282996 119282996 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024581.4 -1 validated p.D1091N 1.000 188 0% 192 21.9% 0 - possibly_damaging(0.708) tolerated(0.28) neutral(0.287) NULL FAM184A 79632 genome.wustl.edu 37 6 119345663 119345663 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024581.4 -1 validated p.E159K 1.000 256 0% 220 30% 0 - probably_damaging(0.998) tolerated(0.24) deleterious(0.512) NULL MAN1A1 4121 genome.wustl.edu 37 6 119511012 119511012 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005907.2 -1 reviewed p.G455R 1.000 115 0% 106 32.1% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 C6orf170 221322 genome.wustl.edu 37 6 121433702 121433702 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152730.4 -1 validated p.F1091L 1.000 162 0% 128 35.2% 2 0% probably_damaging(0.987) tolerated(0.47) neutral(0.448) NULL C6orf170 221322 genome.wustl.edu 37 6 121563366 121563366 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152730.4 -1 validated p.R713Q 0.730 190 0% 144 24.3% 1 100% benign(0.014) tolerated(0.56) neutral(0.007) NULL C6orf170 221322 genome.wustl.edu 37 6 121605032 121605032 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152730.4 -1 validated p.L466R 0.983 195 0% 108 25% 1 100% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) NULL C6orf170 221322 genome.wustl.edu 37 6 121613199 121613199 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152730.4 -1 validated p.G458C 1.000 131 0% 120 36.7% 0 - probably_damaging(0.973) tolerated(0.18) deleterious(0.471) NULL C6orf170 221322 genome.wustl.edu 37 6 121624769 121624769 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152730.4 -1 validated p.K358N 0.999 110 0% 82 31.7% 2 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL C6orf170 221322 genome.wustl.edu 37 6 121624897 121624897 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152730.4 -1 validated p.E316* 1.000 121 0% 76 26.3% 0 - - - - NULL C6orf170 221322 genome.wustl.edu 37 6 121655468 121655468 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152730.4 -1 validated p.E37K 1.000 101 0% 67 32.8% 1 0% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL SMPDL3A 10924 genome.wustl.edu 37 6 123126165 123126165 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006714.3 +1 validated p.D284Y 0.000 204 0% 184 37% 2 100% benign(0.383) deleterious(0.03) deleterious(0.487) HMMPfam_Metallophos,superfamily_SSF56300 NCOA7 135112 genome.wustl.edu 37 6 126206363 126206363 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181782.3 +1 validated p.K253T 1.000 303 0% 298 26.2% 2 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_GRAM RSPO3 84870 genome.wustl.edu 37 6 127440394 127440394 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032784.3 +1 reviewed p.I19 1.000 142 0% 119 28.6% 1 0% - - - superfamily_Growth factor receptor domain RNF146 81847 genome.wustl.edu 37 6 127608668 127608668 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030963.2 +1 provisional p.A303T 0.998 190 0% 204 28.4% 38 42.1% benign(0.042) tolerated(0.15) neutral(0.243) NULL KIAA0408 9729 genome.wustl.edu 37 6 127767827 127767827 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014702.4 -1 validated p.N546T 1.000 118 0% 102 22.5% 1 0% benign(0.154) tolerated(0.43) neutral(0.027) NULL KIAA0408 9729 genome.wustl.edu 37 6 127771029 127771029 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014702.4 -1 validated p.A172 1.000 254 0% 246 27.2% 0 - - - - NULL KIAA0408 9729 genome.wustl.edu 37 6 127771309 127771309 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014702.4 -1 validated p.E108 0.000 259 0.4% 225 28.9% 0 - - - - NULL LOC100287918 100287918 genome.wustl.edu 37 6 127981347 127981347 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342669.1 +1 model p.K129T 0.330 22 0% 25 24% 0 - - - - NULL THEMIS 387357 genome.wustl.edu 37 6 128221985 128221985 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010923.2 -1 reviewed e1+2 1.000 217 0% 123 17.1% 0 - - - - - PTPRK 5796 genome.wustl.edu 37 6 128304034 128304034 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135648.1 -1 validated p.F1166C 1.000 219 0% 113 49.6% 15 100% possibly_damaging(0.776) deleterious(0.02) deleterious(0.672) superfamily_SSF52799 PTPRK 5796 genome.wustl.edu 37 6 128505654 128505654 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135648.1 -1 validated p.R362Q 1.000 165 0% 123 27.6% 4 25% possibly_damaging(0.938) tolerated(0.06) deleterious(0.706) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like LAMA2 3908 genome.wustl.edu 37 6 129371200 129371200 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000426.3 +1 reviewed p.R84* 1.000 132 0% 115 23.5% 0 - - - - HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like LAMA2 3908 genome.wustl.edu 37 6 129573286 129573286 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000426.3 +1 reviewed p.E648* 1.000 125 0% 69 31.9% 0 - - - - HMMPfam_Laminin_B,superfamily_ConA_like_lec_gl,HMMSmart_LamB LAMA2 3908 genome.wustl.edu 37 6 129588356 129588356 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000426.3 +1 reviewed p.E772* 1.000 494 0% 425 30.6% 2 0% - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,superfamily_SSF57196 LAMA2 3908 genome.wustl.edu 37 6 129618885 129618885 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000426.3 +1 reviewed p.S971Y 1.000 94 1.1% 62 12.9% 0 - possibly_damaging(0.885) tolerated(0.28) neutral(0.377) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,superfamily_SSF57196 LAMA2 3908 genome.wustl.edu 37 6 129635892 129635892 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000426.3 +1 reviewed p.C1168 1.000 70 0% 54 29.6% 1 0% - - - PatternScan_EGF_LAM_1,superfamily_ConA_like_lec_gl LAMA2 3908 genome.wustl.edu 37 6 129762128 129762128 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000426.3 +1 reviewed p.D2085N 1.000 70 0% 75 28% 1 0% probably_damaging(1) tolerated(0.4) deleterious(0.516) superfamily_ConA_like_lec_gl,HMMPfam_Laminin_II LAMA2 3908 genome.wustl.edu 37 6 129786341 129786341 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000426.3 +1 reviewed p.D2403N 1.000 111 0% 119 27.7% 2 0% probably_damaging(1) tolerated(0.33) deleterious(0.524) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 LAMA2 3908 genome.wustl.edu 37 6 129802525 129802525 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000426.3 +1 reviewed p.L2564I 0.994 280 0.4% 190 32.6% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 LAMA2 3908 genome.wustl.edu 37 6 129813196 129813196 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000426.3 +1 reviewed p.C2683 0.038 263 0% 226 13.3% 5 0% - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 LAMA2 3908 genome.wustl.edu 37 6 129835546 129835546 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000426.3 +1 reviewed p.G3006D 1.000 89 0% 102 24.5% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 ARHGAP18 93663 genome.wustl.edu 37 6 129921960 129921960 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033515.2 -1 validated p.N467H 1.000 155 0% 212 26.9% 4 0% benign(0) tolerated(0.72) neutral(0.002) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP18 93663 genome.wustl.edu 37 6 129937418 129937418 + Missense_Mutation SNP G G A rs191935343 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033515.2 -1 validated p.A328V 0.082 38 0% 43 18.6% 4 0% benign(0) tolerated(1) - superfamily_GTPase activation domain GAP TMEM244 253582 genome.wustl.edu 37 6 130154682 130154682 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010876.1 -1 provisional p.F81S 0.890 325 0% 191 20.9% 0 - benign(0.002) tolerated(0.1) neutral(0.286) NULL EPB41L2 2037 genome.wustl.edu 37 6 131216189 131216189 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001431.3 -1 validated p.R436Q 1.000 394 0% 296 29.4% 22 22.7% probably_damaging(0.977) deleterious(0.04) deleterious(0.768) HMMPfam_FERM_C,superfamily_SSF50729 AKAP7 9465 genome.wustl.edu 37 6 131481229 131481229 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016377.2 +1 reviewed p.R39I 0.017 97 0% 108 27.8% 0 - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) HMMPfam_AKAP7_NLS AKAP7 9465 genome.wustl.edu 37 6 131520602 131520602 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016377.2 +1 reviewed p.E175D 0.965 89 0% 84 40.5% 2 50% benign(0.005) tolerated(0.35) neutral(0.021) superfamily_LigT-like,HMMPfam_AKAP7_NLS ENPP3 5169 genome.wustl.edu 37 6 131962598 131962598 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005021.3 +1 reviewed p.L28I 1.000 107 0% 106 14.2% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL ENPP3 5169 genome.wustl.edu 37 6 131974028 131974028 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005021.3 +1 reviewed p.E154G 0.960 123 0% 93 28% 0 - benign(0.025) tolerated(0.08) neutral(0.301) superfamily_Alkaline_phosphatase_core ENPP3 5169 genome.wustl.edu 37 6 132006581 132006581 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005021.3 +1 reviewed p.E400K 0.999 332 0% 282 28.7% 0 - benign(0.245) tolerated(0.88) neutral(0.025) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ENPP3 5169 genome.wustl.edu 37 6 132068063 132068063 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005021.3 +1 reviewed p.K865 1.000 254 0% 188 23.9% 2 0% - - - superfamily_SSF54060 ENPP1 5167 genome.wustl.edu 37 6 132193231 132193231 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006208.2 +1 reviewed p.R476Q 0.997 304 0% 232 32.8% 0 - possibly_damaging(0.657) tolerated(0.41) neutral(0.246) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core MOXD1 26002 genome.wustl.edu 37 6 132649723 132649723 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015529.2 -1 validated p.V225A 0.985 89 0% 69 26.1% 8 0% benign(0.103) deleterious(0.01) neutral(0.414) HMMPfam_Cu2_monooxygen,superfamily_PHM/PNGase F TAAR9 134860 genome.wustl.edu 37 6 132859520 132859520 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175057.3 +1 reviewed p.P31H 0.056 92 0% 93 30.1% 0 - benign(0.027) deleterious(0.01) neutral(0.407) superfamily_Family A G protein-coupled receptor-like TAAR6 319100 genome.wustl.edu 37 6 132892156 132892156 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175067.1 +1 reviewed p.E232D 0.001 158 0% 193 35.8% 0 - probably_damaging(0.999) tolerated(0.83) deleterious(0.491) HMMPfam_7tm_1,superfamily_SSF81321 TAAR5 9038 genome.wustl.edu 37 6 132910545 132910545 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003967.2 -1 validated p.R94H 0.306 136 0% 147 31.3% 0 - benign(0.015) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 TAAR1 134864 genome.wustl.edu 37 6 132966342 132966342 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138327.1 -1 provisional p.F267L 1.000 451 0% 306 30.7% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_7tm_1,superfamily_SSF81321 TAAR1 134864 genome.wustl.edu 37 6 132966508 132966508 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138327.1 -1 provisional p.R212I 1.000 380 0% 295 28.5% 0 - possibly_damaging(0.906) deleterious(0) deleterious(0.804) HMMPfam_7tm_1,superfamily_SSF81321 VNN1 8876 genome.wustl.edu 37 6 133014313 133014313 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004666.2 -1 reviewed p.D226Y 0.871 173 0% 134 35.8% 0 - possibly_damaging(0.87) deleterious(0) deleterious(0.782) HMMPfam_CN_hydrolase,superfamily_Ntlse/CNhydtse VNN2 8875 genome.wustl.edu 37 6 133078869 133078869 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004665.2 -1 reviewed p.N52H 0.000 223 0% 217 19.4% 0 - benign(0.098) tolerated(0.11) neutral(0.279) superfamily_Ntlse/CNhydtse EYA4 2070 genome.wustl.edu 37 6 133802609 133802609 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004100.4 +1 reviewed p.D327N 1.000 421 0% 341 28.7% 0 - possibly_damaging(0.455) tolerated(0.68) neutral(0.151) NULL SGK1 6446 genome.wustl.edu 37 6 134494254 134494254 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143676.1 -1 reviewed p.K247N 1.000 265 0% 221 30.3% 5 60% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ALDH8A1 64577 genome.wustl.edu 37 6 135239673 135239673 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022568.2 -1 reviewed p.W448* 1.000 53 0% 72 29.2% 0 - - - - HMMPfam_Aldedh,superfamily_ALDH-like MYB 4602 genome.wustl.edu 37 6 135515551 135515551 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130173.1 +1 reviewed p.L301F 1.000 149 0% 131 27.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Wos2 MYB 4602 genome.wustl.edu 37 6 135518458 135518458 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130173.1 +1 reviewed p.S521 1.000 140 0% 137 30.7% 2 0% - - - HMMPfam_Cmyb_C PDE7B 27115 genome.wustl.edu 37 6 136268611 136268611 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018945.3 +1 reviewed p.E11K 1.000 114 0% 91 31.9% 1 0% possibly_damaging(0.829) tolerated(0.07) deleterious(0.633) NULL PDE7B 27115 genome.wustl.edu 37 6 136472385 136472385 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018945.3 +1 reviewed p.R157Q 1.000 129 0% 104 27.9% 0 - possibly_damaging(0.49) tolerated(0.1) neutral(0.450) superfamily_HD-domain/PDEase-like MAP3K5 4217 genome.wustl.edu 37 6 136904818 136904818 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005923.3 -1 reviewed p.E1096* 1.000 205 0% 192 33.9% 2 0% - - - NULL MAP3K5 4217 genome.wustl.edu 37 6 136904864 136904864 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005923.3 -1 reviewed p.P1080 0.170 221 0% 210 33.3% 2 50% - - - NULL MAP3K5 4217 genome.wustl.edu 37 6 136913591 136913591 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005923.3 -1 reviewed p.R1014W 0.960 264 0.4% 255 33.3% 5 80% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL MAP3K5 4217 genome.wustl.edu 37 6 136923006 136923006 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005923.3 -1 reviewed p.D931N 1.000 177 0% 133 35.3% 2 0% benign(0.034) deleterious(0.03) neutral(0.366) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAP3K5 4217 genome.wustl.edu 37 6 136977484 136977484 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005923.3 -1 reviewed p.V547 0.023 310 0% 306 29.1% 4 25% - - - NULL MAP3K5 4217 genome.wustl.edu 37 6 137015401 137015401 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005923.3 -1 reviewed p.P377L 1.000 125 0% 94 33% 2 0% possibly_damaging(0.927) deleterious(0) deleterious(0.820) NULL MAP3K5 4217 genome.wustl.edu 37 6 137018434 137018434 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005923.3 -1 reviewed p.R300W 1.000 204 0% 202 28.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MAP3K5 4217 genome.wustl.edu 37 6 137041721 137041721 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005923.3 -1 reviewed p.A152V 1.000 128 0.8% 109 31.2% 3 0% probably_damaging(0.973) tolerated(0.23) neutral(0.456) NULL MAP3K5 4217 genome.wustl.edu 37 6 137112939 137112939 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005923.3 -1 reviewed p.A119 1.000 42 0% 43 25.6% 1 0% - - - NULL OLIG3 167826 genome.wustl.edu 37 6 137815034 137815034 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175747.2 -1 provisional p.E92K 1.000 54 0% 61 36.1% 0 - possibly_damaging(0.653) deleterious(0.01) deleterious(0.635) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic KIAA1244 57221 genome.wustl.edu 37 6 138644882 138644882 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020340.4 +1 validated p.A1614V 1.000 167 0% 120 30% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL KIAA1244 57221 genome.wustl.edu 37 6 138655752 138655752 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020340.4 +1 validated p.E1923D 0.036 65 0% 64 32.8% 0 - benign(0.252) tolerated(0.41) neutral(0.041) NULL ECT2L 345930 genome.wustl.edu 37 6 139206668 139206668 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077706.1 +1 validated p.R685Q 1.000 185 0% 124 34.7% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ECT2L 345930 genome.wustl.edu 37 6 139223733 139223733 + Missense_Mutation SNP G G A rs181439920 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077706.1 +1 validated p.R895Q 0.134 142 0% 117 29.9% 0 - benign(0) tolerated(1) - superfamily_SSF50729 REPS1 85021 genome.wustl.edu 37 6 139262578 139262578 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031922.3 -1 validated p.F343L 1.000 332 0% 322 28.9% 12 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_EH,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 HIVEP2 3097 genome.wustl.edu 37 6 143089655 143089655 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006734.3 -1 provisional p.F1736I 0.998 113 0% 122 27% 4 75% possibly_damaging(0.903) tolerated(0.56) neutral(0.364) NULL HIVEP2 3097 genome.wustl.edu 37 6 143093194 143093194 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006734.3 -1 provisional p.T894 0.002 69 0% 65 35.4% 2 50% - - - NULL LTV1 84946 genome.wustl.edu 37 6 144183355 144183355 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032860.3 +1 provisional p.E346D 1.000 206 0% 131 28.2% 22 45.4% possibly_damaging(0.757) tolerated(0.23) neutral(0.321) HMMPfam_LTV UTRN 7402 genome.wustl.edu 37 6 144745220 144745220 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000421035 +1 known e5+2 0.001 188 0% 159 34% 0 - - - - - UTRN 7402 genome.wustl.edu 37 6 144800952 144800952 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007124.2 +1 reviewed p.A1114D 0.316 250 0% 188 25.5% 4 25% benign(0) tolerated(0.21) neutral(0.044) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144858824 144858824 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007124.2 +1 reviewed p.E2114K 0.009 313 0% 203 26.1% 5 20% benign(0) deleterious(0.01) neutral(0.406) HMMSmart_SPEC,superfamily_Spectrin EPM2A 7957 genome.wustl.edu 37 6 145948598 145948598 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005670.3 -1 reviewed p.F317C 0.998 255 0.4% 180 27.2% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II GRM1 2911 genome.wustl.edu 37 6 146351009 146351009 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000838.3 +1 reviewed p.S119N 1.000 88 0% 89 30.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_SSF53822 GRM1 2911 genome.wustl.edu 37 6 146747736 146747736 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114329.1 +1 reviewed p.S901L 1.000 50 0% 45 28.9% 0 - unknown(0) tolerated(0.15) - NULL GRM1 2911 genome.wustl.edu 37 6 146755687 146755687 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000838.3 +1 reviewed p.E1114K 1.000 93 0% 101 31.7% 0 - benign(0.073) tolerated(0.14) neutral(0.255) NULL STXBP5 134957 genome.wustl.edu 37 6 147684764 147684764 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127715.1 +1 reviewed p.R947C 1.000 186 0% 147 27.9% 7 28.5% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL SAMD5 389432 genome.wustl.edu 37 6 147885589 147885589 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001030060.2 +1 validated p.R173 1.000 239 0% 200 26.5% 0 - - - - NULL SASH1 23328 genome.wustl.edu 37 6 148835568 148835568 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015278.3 +1 validated p.E280* 1.000 41 0% 35 37.1% 0 - - - - NULL ZC3H12D 340152 genome.wustl.edu 37 6 149795589 149795589 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207360.2 -1 validated p.A31T 0.983 39 0% 34 32.4% 3 0% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) NULL IYD 389434 genome.wustl.edu 37 6 150715304 150715304 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203395.2 +1 reviewed p.G200 0.000 140 0% 133 17.3% 0 - - - - HMMPfam_Nitroreductase,superfamily_FMN-dependent nitroreductase-like PLEKHG1 57480 genome.wustl.edu 37 6 151130806 151130806 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029884.1 +1 provisional p.R405H 1.000 58 0% 89 33.7% 3 66.6% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PLEKHG1 57480 genome.wustl.edu 37 6 151153217 151153217 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029884.1 +1 provisional p.A990 0.967 237 0% 188 27.1% 12 33.3% - - - NULL AKAP12 9590 genome.wustl.edu 37 6 151671079 151671079 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005100.3 +1 reviewed p.K518T 1.000 280 0% 316 29.1% 10 60% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL RMND1 55005 genome.wustl.edu 37 6 151744667 151744667 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000367299 -1 known p.P2S 0.999 157 0% 131 29% 23 30.4% unknown(0) deleterious(0) - HMMPfam_DUF155 C6orf97 80129 genome.wustl.edu 37 6 151894524 151894524 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025059.3 +1 validated p.I330 0.001 101 0% 92 33.7% 1 100% - - - NULL C6orf97 80129 genome.wustl.edu 37 6 151907125 151907125 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025059.3 +1 validated p.E398D 0.714 53 0% 61 32.8% 2 50% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL ESR1 2099 genome.wustl.edu 37 6 152201885 152201885 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000125.3 +1 reviewed p.E247K 1.000 90 0% 77 31.2% 13 38.4% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) SYNE1 23345 genome.wustl.edu 37 6 152529232 152529232 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.R7567C 1.000 212 0% 157 23.6% 2 0% possibly_damaging(0.468) tolerated(0.2) neutral(0.203) HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152602996 152602996 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.A6109 0.000 107 0% 85 41.2% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152651599 152651599 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.R4741C 0.984 125 0% 118 34.7% 0 - probably_damaging(1) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152671317 152671317 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.L3963 0.939 108 0% 72 37.5% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152683320 152683320 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.M3428I 0.006 114 0% 99 27.3% 0 - benign(0) - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152697980 152697980 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.L3026R 1.000 177 0% 136 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SYNE1 23345 genome.wustl.edu 37 6 152720815 152720815 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.A2391 0.123 293 0% 264 29.5% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152749438 152749438 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.V1626 0.001 223 0% 176 31.8% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152765684 152765684 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.D1233E 0.983 87 0% 66 10.6% 0 - benign(0.001) tolerated(1) - NULL SYNE1 23345 genome.wustl.edu 37 6 152768615 152768615 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.A1216V 0.612 70 0% 68 29.4% 0 - benign(0.313) tolerated(0.22) neutral(0.140) superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152826487 152826487 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.S209 0.157 154 1.3% 158 32.9% 0 - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain SYNE1 23345 genome.wustl.edu 37 6 152847310 152847310 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182961.2 -1 reviewed p.R44W 1.000 154 0% 118 25.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain MYCT1 80177 genome.wustl.edu 37 6 153019140 153019140 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025107.2 +1 validated p.L35I 0.033 88 0% 75 34.7% 0 - benign(0.051) deleterious(0) neutral(0.448) NULL MYCT1 80177 genome.wustl.edu 37 6 153042956 153042956 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025107.2 +1 validated p.C92 0.619 216 0% 234 24.8% 3 0% - - - NULL OPRM1 4988 genome.wustl.edu 37 6 154412548 154412548 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145279.1 +1 reviewed p.R462C 0.995 174 0% 184 33.2% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_SSF81321 SCAF8 22828 genome.wustl.edu 37 6 155095158 155095158 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014892.3 +1 validated p.S22 1.000 366 0% 253 32.8% 3 0% - - - HMMSmart_RPR,superfamily_ENTH_VHS SCAF8 22828 genome.wustl.edu 37 6 155129920 155129920 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014892.3 +1 validated p.R405Q 1.000 143 0% 150 30% 12 25% unknown(0) deleterious(0.02) - NULL SYNJ2 8871 genome.wustl.edu 37 6 158495616 158495616 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003898.3 +1 reviewed p.R713I 0.883 162 0% 134 26.1% 3 33.3% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like TULP4 56995 genome.wustl.edu 37 6 158900820 158900820 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020245.3 +1 validated p.S355L 0.000 121 0% 120 32.5% 4 100% benign(0.277) tolerated(0.22) neutral(0.072) superfamily_TNF-like,superfamily_WD40 repeat-like TMEM181 57583 genome.wustl.edu 37 6 159049478 159049478 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020823.1 +1 validated p.L520R 0.909 63 0% 61 34.4% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EZR 7430 genome.wustl.edu 37 6 159192358 159192358 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001111077.1 -1 reviewed p.R293C 1.000 86 0% 54 35.2% 468 48.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_FERM_C,superfamily_SSF50729 TAGAP 117289 genome.wustl.edu 37 6 159457586 159457586 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_054114.3 -1 reviewed p.S490Y 1.000 157 0% 132 31.8% 3 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TAGAP 117289 genome.wustl.edu 37 6 159465153 159465153 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_054114.3 -1 reviewed p.A9V 0.846 119 0% 86 33.7% 0 - benign(0.001) tolerated(0.18) neutral(0.056) NULL FNDC1 84624 genome.wustl.edu 37 6 159653677 159653677 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000329629 +1 known p.C607R 0.000 38 0% 27 33.3% 7 0% - - - NULL FNDC1 84624 genome.wustl.edu 37 6 159655082 159655082 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032532.2 +1 validated p.D1180N 1.000 24 0% 18 22.2% 9 0% unknown(0) deleterious(0.01) - NULL FNDC1 84624 genome.wustl.edu 37 6 159657316 159657316 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032532.2 +1 validated p.R1346I 1.000 62 0% 31 19.4% 8 0% unknown(0) deleterious(0) - NULL PNLDC1 154197 genome.wustl.edu 37 6 160230077 160230077 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173516.1 +1 provisional p.R213C 0.998 186 0.5% 119 27.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CAF1,superfamily_Ribonuclease H-like MAS1 4142 genome.wustl.edu 37 6 160328573 160328573 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002377.2 +1 reviewed p.F196V 1.000 151 0% 186 36% 0 - possibly_damaging(0.943) tolerated(0.17) neutral(0.447) HMMPfam_7tm_1,superfamily_SSF81321 IGF2R 3482 genome.wustl.edu 37 6 160431794 160431794 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000876.2 +1 reviewed p.D164Y 0.993 151 0% 85 21.2% 2 50% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_CIMR IGF2R 3482 genome.wustl.edu 37 6 160481681 160481681 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000876.2 +1 reviewed p.R1065Q 0.433 155 0% 107 12.1% 15 0% possibly_damaging(0.854) tolerated(0.25) neutral(0.366) HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain SLC22A2 6582 genome.wustl.edu 37 6 160679514 160679514 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003058.2 -1 reviewed p.Y92 0.982 82 0% 62 37.1% 0 - - - - NULL SLC22A3 6581 genome.wustl.edu 37 6 160831780 160831780 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021977.2 +1 reviewed p.R293C 1.000 133 0% 155 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS general substrate transporter LPA 4018 genome.wustl.edu 37 6 160968967 160968967 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005577.2 -1 reviewed p.C1720R 1.000 268 0% 180 22.8% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like LPA 4018 genome.wustl.edu 37 6 161012008 161012008 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005577.2 -1 reviewed p.V1252A 0.014 137 0% 126 27.8% 0 - benign(0.001) deleterious(0.02) neutral(0.383) superfamily_Kringle-like LPA 4018 genome.wustl.edu 37 6 161026190 161026190 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005577.2 -1 reviewed p.G945* 0.096 737 0% 709 29.6% 0 - - - - HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like PLG 5340 genome.wustl.edu 37 6 161135910 161135910 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000301.3 +1 reviewed p.S211F 0.672 95 0% 81 28.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like PLG 5340 genome.wustl.edu 37 6 161155113 161155113 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000301.3 +1 reviewed p.P558 0.870 121 0% 79 26.6% 0 - - - - HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like PLG 5340 genome.wustl.edu 37 6 161173182 161173182 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000301.3 +1 reviewed p.L721F 1.000 141 0% 179 35.8% 0 - benign(0.033) tolerated(0.27) neutral(0.035) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MAP3K4 4216 genome.wustl.edu 37 6 161469743 161469743 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005922.2 +1 reviewed p.R147G 0.984 391 0% 226 24.8% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL MAP3K4 4216 genome.wustl.edu 37 6 161469974 161469974 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005922.2 +1 reviewed p.K224Q 1.000 174 0% 135 26.7% 3 100% probably_damaging(1) tolerated(0.46) deleterious(0.512) NULL MAP3K4 4216 genome.wustl.edu 37 6 161470515 161470515 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005922.2 +1 reviewed p.N404T 0.992 248 0% 170 34.1% 3 33.3% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL AGPAT4 56895 genome.wustl.edu 37 6 161575188 161575188 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020133.2 -1 reviewed p.K168T 1.000 85 0% 37 21.6% 6 0% possibly_damaging(0.873) deleterious(0) deleterious(0.784) HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 PARK2 5071 genome.wustl.edu 37 6 162864476 162864476 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004562.2 -1 reviewed p.F13V 0.765 182 0.5% 201 31.8% 1 100% benign(0.293) tolerated(0.21) neutral(0.135) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like PDE10A 10846 genome.wustl.edu 37 6 165832172 165832172 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130690.1 -1 validated p.G317* 0.967 152 0% 94 24.5% 0 - - - - HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 PDE10A 10846 genome.wustl.edu 37 6 165957065 165957065 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000392126 -1 known p.S9Y 0.995 126 0% 115 33% 0 - benign(0.095) tolerated(0.3) neutral(0.036) NULL T 6862 genome.wustl.edu 37 6 166580208 166580208 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003181.2 -1 reviewed p.P115T 1.000 33 0% 32 50% 0 - benign(0.048) deleterious(0) neutral(0.448) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd RPS6KA2 6196 genome.wustl.edu 37 6 166845950 166845950 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001006932.1 -1 reviewed p.S462L 0.998 47 0% 34 35.3% 7 57.1% benign(0.009) deleterious(0.03) neutral(0.365) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RNASET2 8635 genome.wustl.edu 37 6 167352375 167352375 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000477674 -1 known p.R161C 0.000 52 0% 60 25% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Ribonuclease_T2 TCP10L2 401285 genome.wustl.edu 37 6 167591986 167591986 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145121.1 +1 inferred p.P205S 0.000 112 0% 91 29.7% 0 - probably_damaging(0.959) tolerated(0.28) neutral(0.434) NULL UNC93A 54346 genome.wustl.edu 37 6 167728741 167728741 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018974.3 +1 validated p.A392V 0.999 176 0% 130 29.2% 3 0% possibly_damaging(0.507) deleterious(0) deleterious(0.614) superfamily_MFS_gen_substrate_transporter TTLL2 83887 genome.wustl.edu 37 6 167754909 167754909 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031949.4 +1 validated p.S507R 0.016 140 0% 215 36.7% 0 - possibly_damaging(0.836) deleterious(0.04) deleterious(0.668) NULL TTLL2 83887 genome.wustl.edu 37 6 167754996 167754996 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031949.4 +1 validated p.K536N 0.000 171 0% 254 33.5% 0 - benign(0.312) tolerated(0.19) neutral(0.147) NULL TCP10 6953 genome.wustl.edu 37 6 167787872 167787872 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004610.3 -1 validated p.F252 0.000 77 0% 50 22% 0 - - - - HMMPfam_Tcp10_C MLLT4 4301 genome.wustl.edu 37 6 168347514 168347514 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040001.1 +1 validated p.K1154N 1.000 359 0% 247 26.3% 14 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MLLT4 4301 genome.wustl.edu 37 6 168363250 168363250 + Nonsense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000476946 +1 known p.L126* 0.814 151 0% 163 31.9% 1 0% - - - NULL KIF25 3834 genome.wustl.edu 37 6 168440858 168440858 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030615.2 +1 reviewed p.T203M 0.033 25 0% 21 38.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases WDR27 253769 genome.wustl.edu 37 6 170068256 170068256 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182552.3 -1 validated p.E161A 0.000 50 0% 48 25% 0 - benign(0.429) deleterious(0) deleterious(0.584) superfamily_WD40 repeat-like FAM120B 84498 genome.wustl.edu 37 6 170697546 170697546 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032448.1 +1 provisional p.K819Q 0.008 115 0% 95 26.3% 7 71.4% probably_damaging(0.995) tolerated(0.49) neutral(0.468) NULL GNA12 2768 genome.wustl.edu 37 7 2770828 2770828 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007353.2 -1 validated p.I378S 0.965 38 0% 26 42.3% 20 30% probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMPfam_G-alpha CARD11 84433 genome.wustl.edu 37 7 2954933 2954933 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032415.3 -1 validated p.P926L 0.378 32 0% 14 42.9% 1 0% benign(0.03) deleterious(0.01) neutral(0.407) NULL CARD11 84433 genome.wustl.edu 37 7 2962374 2962374 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032415.3 -1 validated p.G721 0.848 40 0% 25 28% 1 0% - - - HMMSmart_PDZ,superfamily_PDZ CARD11 84433 genome.wustl.edu 37 7 2962960 2962960 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032415.3 -1 validated p.R650W 1.000 33 0% 24 41.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SDK1 221935 genome.wustl.edu 37 7 4014109 4014109 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152744.3 +1 validated p.I642 0.998 69 0% 49 12.2% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PAPOLB 56903 genome.wustl.edu 37 7 4900243 4900243 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020144.4 -1 validated p.R400Q 1.000 807 0% 614 17.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAP_RNA-bind,superfamily_PAP_C PAPOLB 56903 genome.wustl.edu 37 7 4901062 4901062 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020144.4 -1 validated p.R127Q 0.535 103 0% 103 11.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NTP_transf_2,HMMPfam_PAP_central,superfamily_SSF81301 RBAK 57786 genome.wustl.edu 37 7 5103670 5103670 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021163.3 +1 reviewed p.L195I 0.592 145 0% 146 33.6% 4 100% possibly_damaging(0.451) tolerated(0.39) neutral(0.163) superfamily_C2H2 and C2HC zinc fingers RBAK 57786 genome.wustl.edu 37 7 5104656 5104656 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021163.3 +1 reviewed p.N523K 0.052 206 0% 208 30.8% 2 0% possibly_damaging(0.648) tolerated(1) neutral(0.228) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CCZ1 51622 genome.wustl.edu 37 7 5940179 5940179 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015622.5 +1 validated p.E98D 0.765 97 0% 79 29.1% 29 13.7% benign(0.002) tolerated(0.42) neutral(0.014) HMMPfam_DUF2049 RSPH10B 222967 genome.wustl.edu 37 7 5967840 5967840 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173565.3 -1 validated p.E807K 0.811 399 0.3% 368 15.5% 0 - benign(0.008) deleterious(0) neutral(0.445) NULL RSPH10B 222967 genome.wustl.edu 37 7 5978439 5978439 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173565.3 -1 validated p.E594K 0.981 293 0% 329 12.2% 0 - benign(0.07) tolerated(0.24) neutral(0.042) NULL PMS2 5395 genome.wustl.edu 37 7 6022616 6022616 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000535.5 -1 reviewed p.T671 0.038 70 0% 78 17.9% 5 40% - - - NULL PMS2 5395 genome.wustl.edu 37 7 6026513 6026513 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000535.5 -1 reviewed p.R628Q 0.003 137 0% 140 36.4% 11 36.3% benign(0.011) tolerated(0.36) neutral(0.021) NULL EIF2AK1 27102 genome.wustl.edu 37 7 6094179 6094179 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014413.3 -1 reviewed p.K92T 1.000 101 0% 92 33.7% 43 65.1% benign(0.025) tolerated(0.09) neutral(0.297) NULL USP42 84132 genome.wustl.edu 37 7 6155006 6155006 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032172.2 +1 validated p.K98N 1.000 260 0% 220 28.6% 2 0% possibly_damaging(0.559) tolerated(0.07) deleterious(0.510) NULL USP42 84132 genome.wustl.edu 37 7 6196425 6196425 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032172.2 +1 validated p.A1228T 0.057 73 0% 26 34.6% 9 11.1% benign(0) deleterious(0.01) neutral(0.406) NULL ZDHHC4 55146 genome.wustl.edu 37 7 6621272 6621272 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134387.1 +1 validated p.R51K 1.000 44 0% 43 37.2% 76 52.6% benign(0.12) tolerated(0.32) neutral(0.034) NULL RSPH10B2 728194 genome.wustl.edu 37 7 6825601 6825601 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099697.1 +1 provisional p.E594K 0.930 385 0% 345 15.9% 0 - benign(0.01) tolerated(0.3) neutral(0.029) NULL CCZ1B 221960 genome.wustl.edu 37 7 6854403 6854403 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198097.2 -1 predicted p.E258K 0.999 101 0% 118 29.7% 63 38% benign(0.373) deleterious(0.03) deleterious(0.483) HMMPfam_DUF2049 CCZ1B 221960 genome.wustl.edu 37 7 6864171 6864171 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198097.2 -1 predicted p.S76N 1.000 120 0% 105 19% 36 19.4% benign(0.001) tolerated(0.48) neutral(0.011) HMMPfam_DUF2049 COL28A1 340267 genome.wustl.edu 37 7 7413128 7413128 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037763.2 -1 validated p.I803 0.996 155 0% 157 30.6% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL28A1 340267 genome.wustl.edu 37 7 7476037 7476037 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037763.2 -1 validated p.R617* 1.000 252 0.4% 190 20.5% 0 - - - - NULL COL28A1 340267 genome.wustl.edu 37 7 7572463 7572463 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037763.2 -1 validated p.A15V 0.398 295 0.3% 268 26.5% 0 - benign(0.013) tolerated(0.36) neutral(0.021) NULL MIOS 54468 genome.wustl.edu 37 7 7612447 7612447 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019005.3 +1 validated p.R114Q 1.000 198 0% 212 23.6% 5 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_WD40 repeat-like LOC340268 340268 genome.wustl.edu 37 7 9766721 9766721 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_041608.1 +1 model NULL 1.000 22 0% 21 33.3% 0 - - - - - LOC340268 340268 genome.wustl.edu 37 7 9767402 9767402 + RNA SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_041608.1 +1 model NULL 0.998 42 0% 29 34.5% 0 - - - - - PHF14 9678 genome.wustl.edu 37 7 11022148 11022148 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000303905 +1 known p.E88* 1.000 51 0% 60 31.7% 6 0% - - - NULL PHF14 9678 genome.wustl.edu 37 7 11022692 11022692 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000303905 +1 known p.K269T 1.000 76 0% 82 29.3% 11 72.7% benign(0.075) deleterious(0) neutral(0.450) NULL PHF14 9678 genome.wustl.edu 37 7 11075334 11075334 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000303905 +1 known p.R508I 1.000 272 0% 265 29.1% 26 53.8% possibly_damaging(0.813) deleterious(0) deleterious(0.752) NULL PHF14 9678 genome.wustl.edu 37 7 11078433 11078433 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000303905 +1 known p.R676Q 1.000 29 0% 38 28.9% 22 68.1% possibly_damaging(0.568) tolerated(0.54) neutral(0.202) NULL THSD7A 221981 genome.wustl.edu 37 7 11450899 11450899 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015204.2 -1 validated p.K1245Q 1.000 113 0% 95 29.5% 4 75% probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat TMEM106B 54664 genome.wustl.edu 37 7 12263934 12263934 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134232.1 +1 validated p.D122N 0.993 583 0% 393 24.7% 30 36.6% benign(0.185) tolerated(0.5) neutral(0.027) HMMPfam_DUF1356 ETV1 2115 genome.wustl.edu 37 7 13949261 13949261 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004956.4 -1 validated p.F312 0.755 166 0% 167 33.5% 4 0% - - - HMMPfam_ETS_PEA3_N DGKB 1607 genome.wustl.edu 37 7 14378214 14378214 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004080.2 -1 reviewed p.R684Q 0.991 174 0% 120 35.8% 0 - benign(0.122) tolerated(0.61) neutral(0.014) HMMPfam_DAGK_acc,HMMSmart_SM00045 DGKB 1607 genome.wustl.edu 37 7 14613962 14613962 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004080.2 -1 reviewed p.D550Y 1.000 531 0% 420 29.5% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_DAGK_cat,HMMSmart_SM00046 DGKB 1607 genome.wustl.edu 37 7 14775810 14775810 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004080.2 -1 reviewed p.F60V 1.000 81 0% 52 36.5% 0 - benign(0.003) tolerated(0.14) neutral(0.249) superfamily_EF-hand AGMO 392636 genome.wustl.edu 37 7 15599775 15599775 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004320.1 -1 provisional p.R83Q 0.966 211 0% 171 24.6% 0 - benign(0.054) tolerated(0.67) neutral(0.006) NULL ANKMY2 57037 genome.wustl.edu 37 7 16649277 16649277 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020319.2 -1 validated p.R287Q 1.000 106 0% 99 26.3% 6 33.3% possibly_damaging(0.501) tolerated(0.61) neutral(0.172) NULL ANKMY2 57037 genome.wustl.edu 37 7 16676035 16676035 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020319.2 -1 validated p.R38H 1.000 53 0% 44 34.1% 5 40% benign(0.003) tolerated(0.2) neutral(0.049) superfamily_Ankyrin repeat AHR 196 genome.wustl.edu 37 7 17373564 17373564 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001621.4 +1 validated p.Y245C 1.000 138 0% 100 25% 4 0% benign(0.022) deleterious(0.01) neutral(0.407) NULL PRPS1L1 221823 genome.wustl.edu 37 7 18066812 18066812 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175886.2 -1 reviewed p.K198 0.977 286 0% 304 35.5% 0 - - - - HMMPfam_Pribosyltran,superfamily_PRTase-like PRPS1L1 221823 genome.wustl.edu 37 7 18066935 18066935 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175886.2 -1 reviewed p.E157D 0.992 276 0% 276 33.7% 0 - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_Pribosyltran,superfamily_PRTase-like PRPS1L1 221823 genome.wustl.edu 37 7 18067044 18067044 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175886.2 -1 reviewed p.A121V 0.555 376 0% 350 35.1% 0 - benign(0.171) tolerated(0.42) neutral(0.029) superfamily_PRTase-like HDAC9 9734 genome.wustl.edu 37 7 18705844 18705844 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178425.2 +1 reviewed p.S492 1.000 261 0% 194 29.9% 3 66.6% - - - NULL HDAC9 9734 genome.wustl.edu 37 7 18801781 18801781 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178425.2 +1 reviewed p.R682Q 1.000 57 0% 73 32.9% 0 - probably_damaging(0.988) tolerated(0.34) neutral(0.461) HMMPfam_Hist_deacetyl,superfamily_SSF52768 TWISTNB 221830 genome.wustl.edu 37 7 19738155 19738155 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002926.1 -1 validated p.A267 0.152 846 0% 623 29.1% 10 40% - - - NULL TWISTNB 221830 genome.wustl.edu 37 7 19739785 19739785 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002926.1 -1 validated p.N172S 0.004 264 0% 164 31.7% 2 50% benign(0.005) tolerated(0.74) neutral(0.002) NULL MACC1 346389 genome.wustl.edu 37 7 20199187 20199187 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182762.3 -1 validated p.S266L 0.588 115 0% 134 23.9% 1 0% probably_damaging(0.963) tolerated(0.11) deleterious(0.677) NULL ABCB5 340273 genome.wustl.edu 37 7 20682942 20682942 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000404938 +1 known p.Q150H 1.000 112 0% 105 27.6% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB5 340273 genome.wustl.edu 37 7 20687674 20687674 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000404938 +1 known p.F393L 0.975 55 0% 60 43.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB5 340273 genome.wustl.edu 37 7 20793077 20793077 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178559.5 +1 validated p.K730R 1.000 141 0% 168 31.5% 0 - benign(0.184) tolerated(0.36) neutral(0.037) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SP4 6671 genome.wustl.edu 37 7 21469946 21469946 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003112.3 +1 validated p.D388A 1.000 77 0% 112 22.3% 1 0% benign(0.03) tolerated(0.61) neutral(0.005) NULL DNAH11 8701 genome.wustl.edu 37 7 21654738 21654738 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003777.3 +1 reviewed p.E1287* 0.780 154 0.6% 117 29.9% 0 - - - - NULL DNAH11 8701 genome.wustl.edu 37 7 21818625 21818625 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003777.3 +1 reviewed p.L3136P 0.990 86 0% 71 28.2% 0 - probably_damaging(0.96) tolerated(0.18) neutral(0.459) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH11 8701 genome.wustl.edu 37 7 21847545 21847545 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003777.3 +1 reviewed p.E3411* 1.000 37 0% 55 34.5% 0 - - - - NULL DNAH11 8701 genome.wustl.edu 37 7 21901560 21901560 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000421290 +1 known p.H159N 1.000 91 0% 103 22.3% 0 - - - - NULL DNAH11 8701 genome.wustl.edu 37 7 21924013 21924013 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003777.3 +1 reviewed p.F4171 1.000 86 0% 73 27.4% 0 - - - - HMMPfam_Dynein_heavy DNAH11 8701 genome.wustl.edu 37 7 21938987 21938987 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003777.3 +1 reviewed p.L4368 0.002 259 0% 211 22.3% 0 - - - - HMMPfam_Dynein_heavy RAPGEF5 9771 genome.wustl.edu 37 7 22270524 22270524 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012294.3 -1 validated p.E118* 1.000 17 0% 19 42.1% 0 - - - - NULL STK31 56164 genome.wustl.edu 37 7 23811820 23811820 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031414.3 +1 reviewed p.L630I 0.981 229 0% 187 33.7% 0 - probably_damaging(0.973) tolerated(0.09) deleterious(0.712) NULL DFNA5 1687 genome.wustl.edu 37 7 24756912 24756912 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127453.1 -1 reviewed p.G220S 0.114 72 0% 54 25.9% 4 0% benign(0.374) tolerated(0.61) neutral(0.123) HMMPfam_Gasdermin OSBPL3 26031 genome.wustl.edu 37 7 24846511 24846511 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015550.2 -1 reviewed p.P776 0.009 192 0.5% 186 30.6% 22 40.9% - - - HMMPfam_Oxysterol_BP OSBPL3 26031 genome.wustl.edu 37 7 24870430 24870430 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015550.2 -1 reviewed p.E614A 1.000 446 0% 362 29.6% 22 63.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Oxysterol_BP NFE2L3 9603 genome.wustl.edu 37 7 26217590 26217590 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004289.6 +1 reviewed p.E200K 0.073 263 0% 222 28.4% 3 66.6% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL NFE2L3 9603 genome.wustl.edu 37 7 26224491 26224491 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004289.6 +1 reviewed p.E391D 1.000 400 0% 309 30.7% 20 0% possibly_damaging(0.664) tolerated(0.13) deleterious(0.487) NULL CBX3 11335 genome.wustl.edu 37 7 26246056 26246056 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007276.3 +1 reviewed p.V31 1.000 99 0% 83 26.5% 135 37.7% - - - HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like HOXA2 3199 genome.wustl.edu 37 7 27140995 27140995 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006735.3 -1 reviewed p.E161* 1.000 66 0% 49 24.5% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like HOXA6 3203 genome.wustl.edu 37 7 27187201 27187201 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024014.2 -1 reviewed p.C56 1.000 58 0% 70 28.6% 0 - - - - NULL EVX1 2128 genome.wustl.edu 37 7 27284827 27284827 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000222761 +1 known p.R178H 0.057 36 0% 36 33.3% 0 - possibly_damaging(0.915) - - NULL ENSG00000248357 0 genome.wustl.edu 37 7 27498135 27498135 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000506075 +1 novel NULL 1.000 105 0% 120 37.5% 88 0% - - - - TAX1BP1 8887 genome.wustl.edu 37 7 27832800 27832800 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006024.5 +1 validated p.Q460R 1.000 69 0% 53 28.3% 59 44% probably_damaging(0.999) tolerated(0.46) deleterious(0.502) HMMPfam_CALCOCO1 FKBP14 55033 genome.wustl.edu 37 7 30066041 30066041 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017946.2 -1 validated p.K28N 1.000 127 0% 125 28.8% 14 50% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) superfamily_FKBP-like PLEKHA8 84725 genome.wustl.edu 37 7 30085979 30085979 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032639.2 +1 provisional p.K104T 1.000 106 0% 75 21.3% 2 100% probably_damaging(0.998) tolerated(0.14) deleterious(0.724) NULL NOD1 10392 genome.wustl.edu 37 7 30487912 30487912 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006092.2 -1 reviewed e4+2 1.000 94 0% 50 22% 0 - - - - - GARS 2617 genome.wustl.edu 37 7 30665851 30665851 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002047.2 +1 reviewed p.E539K 1.000 51 0% 39 35.9% 227 42.2% benign(0.001) tolerated(0.76) neutral(0.001) superfamily_Class II aaRS and biotin synthetases ADCYAP1R1 117 genome.wustl.edu 37 7 31132265 31132265 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001118.3 +1 reviewed p.F321C 1.000 101 0% 70 22.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like NEUROD6 63974 genome.wustl.edu 37 7 31378271 31378271 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022728.2 -1 provisional p.Y204* 1.000 187 0% 179 19.6% 0 - - - - NULL CCDC129 223075 genome.wustl.edu 37 7 31617523 31617523 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194300.2 +1 validated p.F215L 1.000 89 0% 67 11.9% 0 - probably_damaging(0.99) deleterious(0.04) deleterious(0.790) NULL CCDC129 223075 genome.wustl.edu 37 7 31682786 31682786 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194300.2 +1 validated p.G601E 0.005 242 0% 216 29.6% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL CCDC129 223075 genome.wustl.edu 37 7 31683001 31683001 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194300.2 +1 validated p.D673N 0.000 130 0% 109 33% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PDE1C 5137 genome.wustl.edu 37 7 32209402 32209402 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000396193 -1 known p.S101 0.797 235 0% 192 29.7% 0 - - - - NULL AVL9 23080 genome.wustl.edu 37 7 32582761 32582761 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015060.1 +1 provisional p.F34L 1.000 320 0% 293 24.9% 7 14.2% probably_damaging(0.972) deleterious(0.01) deleterious(0.820) HMMPfam_Avl9 KBTBD2 25948 genome.wustl.edu 37 7 32909614 32909614 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015483.2 -1 validated p.E405D 1.000 242 0% 239 28.9% 24 41.6% possibly_damaging(0.94) tolerated(0.32) neutral(0.409) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain NT5C3 51251 genome.wustl.edu 37 7 33057197 33057197 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002010.1 -1 reviewed p.F188V 0.997 201 0% 191 26.2% 20 55% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMPfam_UMPH-1,superfamily_HAD-like ENSG00000251528 0 genome.wustl.edu 37 7 34981293 34981293 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000508348 +1 novel NULL 0.000 93 0% 60 11.7% 0 - - - - - HERPUD2 64224 genome.wustl.edu 37 7 35674865 35674865 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022373.4 -1 validated p.R274Q 1.000 188 0% 186 29.6% 18 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANLN 54443 genome.wustl.edu 37 7 36455472 36455472 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018685.2 +1 validated p.N501H 0.000 462 0% 367 32.4% 15 26.6% benign(0.296) tolerated(0.13) neutral(0.344) NULL AOAH 313 genome.wustl.edu 37 7 36570106 36570106 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001637.3 -1 reviewed p.L480 1.000 78 0% 122 32% 9 0% - - - HMMPfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type AOAH 313 genome.wustl.edu 37 7 36588262 36588262 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001637.3 -1 reviewed p.P363 0.928 234 0% 161 34.8% 8 0% - - - HMMPfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type AOAH 313 genome.wustl.edu 37 7 36616237 36616237 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001637.3 -1 reviewed p.R322C 0.799 236 0% 217 27.6% 8 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type TXNDC3 51314 genome.wustl.edu 37 7 37901671 37901671 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016616.4 +1 reviewed p.P104 0.674 141 0% 110 29.1% 0 - - - - superfamily_Thiordxn-like_fd TXNDC3 51314 genome.wustl.edu 37 7 37905183 37905183 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016616.4 +1 reviewed p.E195 0.001 86 0% 80 23.7% 0 - - - - superfamily_NDK SFRP4 6424 genome.wustl.edu 37 7 37951790 37951790 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003014.3 -1 reviewed p.S241Y 1.000 120 0% 91 35.2% 81 1.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C TRGJP2 6972 genome.wustl.edu 37 7 38295943 38295943 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390334 -1 known p.R19C 0.001 30 0% 23 34.8% 0 - unknown(0) - - NULL TRGV8 6982 genome.wustl.edu 37 7 38370180 38370180 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390343 -1 known p.T40A 0.003 83 0% 111 34.2% 1 0% possibly_damaging(0.902) tolerated(0.98) neutral(0.357) HMMPfam_V-set,superfamily_SSF48726 AMPH 273 genome.wustl.edu 37 7 38424452 38424452 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000441628 -1 known p.L568I 0.998 308 0% 252 26.2% 0 - - - - HMMSmart_SM00326,superfamily_SH3-domain POU6F2 11281 genome.wustl.edu 37 7 39491186 39491186 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007252.3 +1 reviewed p.L430 1.000 84 0% 97 32% 0 - - - - NULL C7orf10 79783 genome.wustl.edu 37 7 40234576 40234576 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000309930 +1 known p.V141A 0.994 206 0% 192 30.7% 0 - probably_damaging(0.979) tolerated(0.13) deleterious(0.674) HMMPfam_CoA_transf_3,superfamily_CoA-Trfase_fam_III C7orf10 79783 genome.wustl.edu 37 7 40535950 40535950 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024728.1 +1 provisional p.I322L 1.000 44 0% 32 21.9% 8 25% probably_damaging(0.966) deleterious(0) deleterious(0.853) superfamily_CoA-Trfase_fam_III GLI3 2737 genome.wustl.edu 37 7 42007393 42007393 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000168.5 -1 reviewed p.I744 0.044 166 0% 144 27.8% 0 - - - - NULL GLI3 2737 genome.wustl.edu 37 7 42085028 42085028 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000168.5 -1 reviewed p.A261T 0.834 200 0% 162 28.4% 1 0% possibly_damaging(0.575) tolerated(0.21) neutral(0.241) NULL HECW1 23072 genome.wustl.edu 37 7 43483983 43483983 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015052.3 +1 validated p.G404 0.000 34 0% 22 22.7% 0 - - - - NULL STK17A 9263 genome.wustl.edu 37 7 43664431 43664431 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004760.2 +1 reviewed p.F412C 1.000 351 0% 262 32.4% 50 32% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SPDYE1 285955 genome.wustl.edu 37 7 44040654 44040654 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175064.2 +1 validated p.F10L 0.435 241 0% 340 24.1% 0 - benign(0.176) deleterious(0) neutral(0.461) NULL SPDYE1 285955 genome.wustl.edu 37 7 44044751 44044751 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175064.2 +1 validated p.A186V 0.139 603 0% 720 32.2% 0 - benign(0.066) deleterious(0) neutral(0.449) NULL YKT6 10652 genome.wustl.edu 37 7 44250719 44250719 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006555.3 +1 reviewed p.K186T 1.000 24 0% 20 35% 96 35.4% benign(0.012) tolerated(0.27) neutral(0.034) HMMPfam_Synaptobrevin NPC1L1 29881 genome.wustl.edu 37 7 44575998 44575998 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013389.2 -1 reviewed p.I571L 0.956 99 0% 105 22.9% 0 - benign(0.002) deleterious(0.01) neutral(0.406) HMMPfam_Patched NPC1L1 29881 genome.wustl.edu 37 7 44579248 44579248 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013389.2 -1 reviewed p.D250N 0.001 40 0% 39 28.2% 0 - benign(0) tolerated(0.51) neutral(0.009) NULL OGDH 4967 genome.wustl.edu 37 7 44715781 44715781 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003941.2 +1 reviewed p.I413 0.000 78 0% 85 40% 3 0% - - - HMMPfam_E1_dh MYO1G 64005 genome.wustl.edu 37 7 45004047 45004047 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033054.2 -1 validated p.F866 0.029 54 0% 28 17.9% 21 0% - - - HMMPfam_Myosin_TH1 RAMP3 10268 genome.wustl.edu 37 7 45222997 45222997 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005856.2 +1 reviewed p.D145N 0.739 59 0% 81 27.2% 17 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_RAMP ADCY1 107 genome.wustl.edu 37 7 45662327 45662327 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021116.2 +1 reviewed p.F335 0.998 42 0% 26 34.6% 0 - - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ADCY1 107 genome.wustl.edu 37 7 45744169 45744169 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021116.2 +1 reviewed p.S924I 1.000 88 0% 70 25.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase IGFBP1 3484 genome.wustl.edu 37 7 45931541 45931541 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000596.2 +1 reviewed p.R177Q 0.553 83 0% 76 23.7% 1 0% benign(0.022) tolerated(1) neutral(0.001) HMMPfam_Thyroglobulin_1,superfamily_Thyroglobulin type-1 domain TNS3 64759 genome.wustl.edu 37 7 47341803 47341803 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022748.10 -1 validated p.A1175 0.284 98 0% 124 15.3% 36 33.3% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain TNS3 64759 genome.wustl.edu 37 7 47385837 47385837 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022748.10 -1 validated p.V800A 0.003 82 1.2% 73 27.4% 30 30% benign(0) tolerated(1) - NULL C7orf69 80099 genome.wustl.edu 37 7 47857722 47857722 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025031.2 +1 validated p.R69 0.001 96 0% 95 30.5% 0 - - - - NULL PKD1L1 168507 genome.wustl.edu 37 7 47876561 47876561 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138295.2 -1 reviewed p.Y1967 0.003 30 0% 24 41.7% 0 - - - - NULL PKD1L1 168507 genome.wustl.edu 37 7 47937671 47937671 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138295.2 -1 reviewed p.L729F 0.482 58 0% 54 18.5% 0 - possibly_damaging(0.937) deleterious(0.03) deleterious(0.748) HMMPfam_REJ PKD1L1 168507 genome.wustl.edu 37 7 47944162 47944162 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138295.2 -1 reviewed p.P582S 0.899 65 0% 54 35.2% 0 - probably_damaging(0.998) tolerated(0.14) deleterious(0.724) HMMSmart_SM00089 C7orf57 136288 genome.wustl.edu 37 7 48089550 48089550 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100159.1 +1 validated p.G194E 0.021 149 0% 138 26.8% 0 - possibly_damaging(0.894) tolerated(0.17) neutral(0.411) NULL ABCA13 154664 genome.wustl.edu 37 7 48285471 48285471 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152701.3 +1 reviewed p.K501N 0.992 76 0% 49 28.6% 2 0% probably_damaging(0.996) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48308640 48308640 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152701.3 +1 reviewed p.Y690S 0.992 45 0% 22 40.9% 0 - probably_damaging(0.999) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48317769 48317769 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152701.3 +1 reviewed p.M2326I 0.000 33 0% 27 22.2% 0 - possibly_damaging(0.586) - - NULL DDC 1644 genome.wustl.edu 37 7 50531095 50531095 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000430300 -1 known p.E307* 0.948 34 0% 23 17.4% 5 0% benign(0.196) deleterious(0) neutral(0.463) superfamily_PLP-dependent transferases COBL 23242 genome.wustl.edu 37 7 51095563 51095563 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015198.3 -1 validated p.G1077E 0.000 119 0% 84 32.1% 4 0% possibly_damaging(0.796) deleterious(0.01) deleterious(0.705) NULL COBL 23242 genome.wustl.edu 37 7 51096440 51096440 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015198.3 -1 validated p.E785K 0.000 60 0% 39 20.5% 9 44.4% possibly_damaging(0.837) deleterious(0) deleterious(0.764) NULL COBL 23242 genome.wustl.edu 37 7 51251847 51251847 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000452534 -1 known p.E164* 1.000 23 0% 20 40% 3 0% probably_damaging(1) tolerated(0.34) deleterious(0.523) HMMPfam_Cobl SEPT14 346288 genome.wustl.edu 37 7 55910726 55910726 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207366.2 -1 validated p.S156Y 0.994 19 0% 22 36.4% 0 - possibly_damaging(0.824) deleterious(0) deleterious(0.756) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF713 349075 genome.wustl.edu 37 7 56006840 56006840 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182633.1 +1 provisional p.E145G 0.719 208 0% 206 29.1% 1 100% possibly_damaging(0.643) tolerated(0.39) neutral(0.241) NULL ZNF713 349075 genome.wustl.edu 37 7 56007489 56007489 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182633.1 +1 provisional p.F361L 0.001 171 0% 197 35% 0 - possibly_damaging(0.662) tolerated(0.16) neutral(0.293) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57187600 57187600 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033273.1 -1 provisional p.L508I 0.037 137 0% 184 12% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57188024 57188024 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033273.1 -1 provisional p.S366 0.000 183 0% 191 29.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57188172 57188172 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033273.1 -1 provisional p.R317K 0.617 209 0% 209 11% 0 - benign(0) tolerated(0.7) neutral(0.002) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF680 340252 genome.wustl.edu 37 7 63981939 63981939 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178558.4 -1 validated p.R398I 1.000 216 0% 213 33.8% 5 60% benign(0.026) tolerated(0.1) neutral(0.287) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF680 340252 genome.wustl.edu 37 7 63982466 63982466 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178558.4 -1 validated p.F222L 0.001 129 0% 128 27.3% 0 - benign(0.103) tolerated(0.64) neutral(0.011) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF107 51427 genome.wustl.edu 37 7 64167074 64167074 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013746.1 +1 validated p.S131F 0.983 116 0% 139 28.8% 1 0% benign(0.006) tolerated(0.26) neutral(0.034) superfamily_SSF57667 ZNF107 51427 genome.wustl.edu 37 7 64168363 64168363 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013746.1 +1 validated p.F561V 0.567 204 0% 196 28.1% 0 - unknown(0) deleterious(0) - superfamily_SSF57667 ZNF138 7697 genome.wustl.edu 37 7 64291883 64291883 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006524.2 +1 validated p.S31Y 0.000 230 0% 211 26.1% 2 100% probably_damaging(0.993) tolerated(0.07) deleterious(0.769) NULL ZNF273 10793 genome.wustl.edu 37 7 64377989 64377989 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021148.2 +1 reviewed p.E45* 0.825 461 0% 330 23.3% 5 40% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF117 51351 genome.wustl.edu 37 7 64437293 64437293 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398695 -1 known p.H382N 0.999 64 0% 62 29% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF117 51351 genome.wustl.edu 37 7 64437531 64437531 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398695 -1 known p.E302D 1.000 69 0% 47 23.4% 2 0% - - - superfamily_C2H2 and C2HC zinc fingers ZNF117 51351 genome.wustl.edu 37 7 64438563 64438563 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015852.3 -1 validated p.T462 0.064 209 0% 192 25% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF117 51351 genome.wustl.edu 37 7 64439395 64439395 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015852.3 -1 validated p.R185I 0.908 224 0.9% 240 35% 1 0% benign(0.01) tolerated(0.2) neutral(0.050) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF117 51351 genome.wustl.edu 37 7 64439605 64439605 + Missense_Mutation SNP C C T rs184853658 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015852.3 -1 validated p.R115H 1.000 153 0% 126 31% 1 100% possibly_damaging(0.771) deleterious(0.01) deleterious(0.692) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000207062 0 genome.wustl.edu 37 7 64530922 64530922 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000384334 +1 novel NULL 0.999 77 0% 72 29.2% 0 - - - - - ZNF92 168374 genome.wustl.edu 37 7 64863857 64863857 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152626.2 +1 validated p.R277I 1.000 357 0.3% 306 31.7% 7 28.5% benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GUSB 2990 genome.wustl.edu 37 7 65441101 65441101 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000181.3 -1 reviewed p.A271 0.519 52 0% 35 25.7% 32 46.8% - - - HMMPfam_Glyco_hydro_2,superfamily_beta-Galactosidase/glucuronidase domain RABGEF1 27342 genome.wustl.edu 37 7 66270267 66270267 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014504.2 +1 validated p.Y321D 1.000 193 0% 183 25.1% 15 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VPS9,HMMSmart_VPS9,superfamily_SSF109993 SBDS 51119 genome.wustl.edu 37 7 66458235 66458235 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016038.2 -1 reviewed p.S143L 1.000 397 0% 398 34.7% 64 15.6% benign(0.037) deleterious(0) neutral(0.447) HMMPfam_SBDS_C,superfamily_Hypothetical protein AF0491 middle domain TYW1 55253 genome.wustl.edu 37 7 66463809 66463809 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018264.2 +1 validated p.K47N 0.004 137 0% 123 23.6% 4 0% benign(0.147) tolerated(0.08) neutral(0.313) NULL TYW1 55253 genome.wustl.edu 37 7 66703394 66703394 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018264.2 +1 validated p.A693T 0.977 262 0% 282 27% 8 0% benign(0.02) tolerated(0.22) neutral(0.043) NULL WBSCR17 64409 genome.wustl.edu 37 7 70853264 70853264 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022479.1 +1 reviewed p.I156L 1.000 219 0% 150 17.3% 0 - benign(0.009) tolerated(0.09) neutral(0.297) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases WBSCR17 64409 genome.wustl.edu 37 7 70853359 70853359 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022479.1 +1 reviewed p.I187 1.000 163 0% 115 25.2% 0 - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases FZD9 8326 genome.wustl.edu 37 7 72849191 72849191 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003508.2 +1 reviewed p.A285V 0.988 46 0% 28 25% 0 - benign(0.002) tolerated(0.24) neutral(0.037) HMMPfam_Frizzled BAZ1B 9031 genome.wustl.edu 37 7 72892073 72892073 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032408.3 -1 validated p.R573I 0.036 583 0% 535 32.3% 8 0% possibly_damaging(0.948) deleterious(0) deleterious(0.836) NULL BAZ1B 9031 genome.wustl.edu 37 7 72892158 72892158 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032408.3 -1 validated p.E545* 1.000 467 0% 405 36% 0 - - - - NULL BAZ1B 9031 genome.wustl.edu 37 7 72892159 72892159 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032408.3 -1 validated p.K544N 1.000 465 0% 405 28.4% 0 - possibly_damaging(0.69) tolerated(0.35) neutral(0.268) NULL BAZ1B 9031 genome.wustl.edu 37 7 72892834 72892834 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032408.3 -1 validated p.K319N 1.000 164 0% 149 27.5% 7 57.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CLDN4 1364 genome.wustl.edu 37 7 73245549 73245549 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001305.3 +1 reviewed p.L6 0.448 49 0% 28 25% 329 42.8% - - - HMMPfam_PMP22_Claudin WBSCR27 155368 genome.wustl.edu 37 7 73256378 73256378 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152559.2 -1 reviewed p.F31L 0.937 47 0% 54 29.6% 3 0% benign(0.034) deleterious(0) neutral(0.447) superfamily_S-adenosyl-L-methionine-dependent methyltransferases CLIP2 7461 genome.wustl.edu 37 7 73795147 73795147 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000493166 +1 known p.R47Q 0.006 140 0% 132 33.3% 4 0% - - - NULL CLIP2 7461 genome.wustl.edu 37 7 73800892 73800892 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003388.4 +1 reviewed p.A841T 1.000 46 0% 43 30.2% 4 0% benign(0.003) tolerated(0.4) neutral(0.016) NULL STAG3L2 442582 genome.wustl.edu 37 7 74299141 74299141 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000359898 -1 known p.D157N 1.000 221 0% 311 10.6% 0 - benign(0.045) tolerated(0.08) neutral(0.302) NULL LOC100132585 100132585 genome.wustl.edu 37 7 74329355 74329355 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001722111.2 -1 model p.Q3H 0.137 11 0.000 5 0.800 0 - - - - NULL WBSCR16 81554 genome.wustl.edu 37 7 74480412 74480412 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030798.3 -1 reviewed p.V211 0.340 41 0% 53 43.4% 24 45.8% - - - superfamily_RCC1/BLIP-II GTF2IRD2B 389524 genome.wustl.edu 37 7 74564704 74564704 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003795.2 +1 reviewed p.S817 0.994 404 0% 440 24.1% 4 0% - - - NULL CCL24 6369 genome.wustl.edu 37 7 75442995 75442995 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002991.2 -1 reviewed p.F13L 0.001 77 0% 89 30.3% 1 0% benign(0.001) tolerated(1) - NULL LOC100288807 100288807 genome.wustl.edu 37 7 76687057 76687057 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342739.1 -1 model p.E169D 0.033 312 0% 330 18.2% 0 - - - - NULL LOC100288807 100288807 genome.wustl.edu 37 7 76688682 76688682 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342739.1 -1 model p.S65F 0.028 423 0% 428 21% 0 - - - - NULL CCDC146 57639 genome.wustl.edu 37 7 76908093 76908093 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020879.2 +1 validated p.E489* 0.998 77 0% 91 33% 0 - - - - NULL CCDC146 57639 genome.wustl.edu 37 7 76911893 76911893 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020879.2 +1 validated p.R647W 0.998 75 0% 83 18.1% 66 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC146 57639 genome.wustl.edu 37 7 76916764 76916764 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020879.2 +1 validated p.L762P 0.958 260 0% 251 31.9% 109 66% benign(0.372) tolerated(0.08) neutral(0.418) NULL CCDC146 57639 genome.wustl.edu 37 7 76922473 76922473 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020879.2 +1 validated p.R874* 1.000 387 0% 331 31.7% 144 65.9% - - - NULL PION 54103 genome.wustl.edu 37 7 76950687 76950687 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017439.3 -1 validated p.W653R 0.927 188 0.5% 142 14.8% 3 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RSBN1L 222194 genome.wustl.edu 37 7 77365776 77365776 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198467.2 +1 validated p.E212D 0.667 44 0% 38 26.3% 1 0% benign(0.395) tolerated(0.08) neutral(0.427) NULL RSBN1L 222194 genome.wustl.edu 37 7 77394819 77394819 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198467.2 +1 validated p.R451I 1.000 256 0% 207 30.9% 8 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RSBN1L 222194 genome.wustl.edu 37 7 77402502 77402502 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198467.2 +1 validated p.R555Q 1.000 210 0% 165 27.9% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAGI2 9863 genome.wustl.edu 37 7 77764483 77764483 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012301.3 -1 reviewed p.P962 1.000 124 0% 84 34.5% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MAGI2 9863 genome.wustl.edu 37 7 77789394 77789394 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012301.3 -1 reviewed p.F931 0.874 60 0% 57 29.8% 2 0% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MAGI2 9863 genome.wustl.edu 37 7 77885785 77885785 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012301.3 -1 reviewed p.R508C 1.000 81 0% 50 28% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00228,superfamily_PDZ domain-like MAGI2 9863 genome.wustl.edu 37 7 78119102 78119102 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012301.3 -1 reviewed p.P341S 1.000 333 0% 239 31.4% 0 - benign(0.403) tolerated(0.61) neutral(0.134) superfamily_WW domain GNAT3 346562 genome.wustl.edu 37 7 80141219 80141219 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102386.1 -1 provisional p.E8D 1.000 46 0% 35 34.3% 0 - possibly_damaging(0.786) tolerated(0.1) deleterious(0.581) HMMPfam_G-alpha,superfamily_P-loop containing nucleoside triphosphate hydrolases CD36 948 genome.wustl.edu 37 7 80290383 80290383 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000072.3 +1 reviewed p.R96C 1.000 167 0% 128 32.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CD36 SEMA3C 10512 genome.wustl.edu 37 7 80394557 80394557 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006379.2 -1 validated p.R453W 1.000 159 0% 110 41.8% 15 46.6% possibly_damaging(0.94) deleterious(0.02) deleterious(0.768) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SEMA3C 10512 genome.wustl.edu 37 7 80439943 80439943 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006379.2 -1 validated p.T174 0.007 178 0% 157 29.3% 17 52.9% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema HGF 3082 genome.wustl.edu 37 7 81372754 81372754 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000601.4 -1 reviewed p.C260 1.000 149 0% 137 31.4% 1 0% - - - HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like,PatternScan_KRINGLE_1 HGF 3082 genome.wustl.edu 37 7 81386582 81386582 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000601.4 -1 reviewed p.S135 1.000 86 0% 72 26.4% 3 0% - - - HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like CACNA2D1 781 genome.wustl.edu 37 7 81589142 81589142 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000722.2 -1 reviewed p.I990 1.000 54 0% 34 55.9% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82544945 82544945 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000426442 -1 known p.T397M 1.000 92 0% 96 34.4% 4 0% - - - NULL PCLO 27445 genome.wustl.edu 37 7 82544949 82544949 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033026.5 -1 validated p.P4118H 1.000 90 0% 97 24.7% 4 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL PCLO 27445 genome.wustl.edu 37 7 82578833 82578833 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033026.5 -1 validated p.E3691K 1.000 438 0% 374 29.1% 5 40% probably_damaging(0.971) - - NULL PCLO 27445 genome.wustl.edu 37 7 82583284 82583284 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033026.5 -1 validated p.E2329K 0.000 495 0% 441 26.8% 2 100% probably_damaging(0.971) - - NULL PCLO 27445 genome.wustl.edu 37 7 82595409 82595409 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033026.5 -1 validated p.K1232T 0.000 552 0.2% 484 25.8% 0 - possibly_damaging(0.936) - - NULL PCLO 27445 genome.wustl.edu 37 7 82763793 82763793 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033026.5 -1 validated p.K1025Q 1.000 77 0% 71 22.5% 0 - probably_damaging(0.978) - - superfamily_FYVE/PHD zinc finger SEMA3A 10371 genome.wustl.edu 37 7 83764140 83764140 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006080.2 -1 reviewed p.F80 1.000 167 0% 125 24.8% 7 42.8% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SEMA3D 223117 genome.wustl.edu 37 7 84628881 84628881 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152754.2 -1 validated p.R737 0.997 150 0% 108 39.8% 1 100% - - - NULL SEMA3D 223117 genome.wustl.edu 37 7 84644433 84644433 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152754.2 -1 validated p.D549N 1.000 266 0% 258 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold GRM3 2913 genome.wustl.edu 37 7 86469047 86469047 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000840.2 +1 reviewed p.I739 0.971 131 0% 95 36.8% 0 - - - - HMMPfam_7tm_3 GRM3 2913 genome.wustl.edu 37 7 86469129 86469129 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000840.2 +1 reviewed p.E767K 1.000 143 0% 103 30.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3 GRM3 2913 genome.wustl.edu 37 7 86479798 86479798 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000840.2 +1 reviewed p.V835G 1.000 171 0% 108 33.3% 0 - benign(0.05) tolerated(0.3) neutral(0.032) NULL KIAA1324L 222223 genome.wustl.edu 37 7 86537857 86537857 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142749.2 -1 validated p.V788F 1.000 192 0% 130 23.8% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) superfamily_Mannose 6-phosphate receptor domain KIAA1324L 222223 genome.wustl.edu 37 7 86542347 86542347 + Nonsense_Mutation SNP C C A rs34740333 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000423294 -1 known p.G596* 1.000 77 0% 62 30.6% 1 0% benign(0.018) tolerated(0.21) neutral(0.044) superfamily_Growth factor receptor domain ABCB4 5244 genome.wustl.edu 37 7 87035643 87035643 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018849.2 -1 reviewed p.K1156N 1.000 358 0% 321 24% 0 - possibly_damaging(0.627) deleterious(0.02) deleterious(0.602) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB4 5244 genome.wustl.edu 37 7 87037358 87037358 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018849.2 -1 reviewed p.T1092A 0.100 269 0% 171 18.7% 1 0% benign(0.003) tolerated(0.53) neutral(0.007) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB4 5244 genome.wustl.edu 37 7 87079294 87079294 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018849.2 -1 reviewed p.E275* 1.000 176 0% 167 29.9% 1 0% - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB4 5244 genome.wustl.edu 37 7 87079363 87079363 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018849.2 -1 reviewed p.A252T 1.000 196 0% 168 32.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87173521 87173521 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000927.3 -1 reviewed p.V712A 1.000 194 0% 155 25.2% 0 - benign(0.001) deleterious(0.01) neutral(0.406) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCB1 5243 genome.wustl.edu 37 7 87179871 87179871 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000927.3 -1 reviewed p.S379 0.052 327 0% 258 14% 1 0% - - - NULL DBF4 10926 genome.wustl.edu 37 7 87514318 87514318 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006716.3 +1 validated p.D82Y 1.000 89 0% 93 21.5% 13 53.8% possibly_damaging(0.911) deleterious(0) deleterious(0.807) NULL DBF4 10926 genome.wustl.edu 37 7 87537426 87537426 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006716.3 +1 validated p.L658P 0.016 146 0% 135 33.3% 23 39.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAM22 53616 genome.wustl.edu 37 7 87607711 87607711 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021723.2 +1 reviewed p.D103N 0.993 148 0% 136 39.7% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Pep_M12B_propep ADAM22 53616 genome.wustl.edu 37 7 87754969 87754969 + Missense_Mutation SNP C C T rs186904476 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021723.2 +1 reviewed p.R225W 1.000 94 0% 53 26.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL STEAP4 79689 genome.wustl.edu 37 7 87910282 87910282 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024636.2 -1 validated p.S366Y 1.000 188 0.5% 137 25.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ferric_reduct STEAP4 79689 genome.wustl.edu 37 7 87912213 87912213 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024636.2 -1 validated p.P243S 0.977 168 0% 130 27.7% 0 - possibly_damaging(0.46) deleterious(0.03) deleterious(0.515) NULL C7orf62 219557 genome.wustl.edu 37 7 88423551 88423551 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152706.2 -1 predicted p.P236S 0.771 193 0% 153 32.7% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL C7orf62 219557 genome.wustl.edu 37 7 88423593 88423593 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152706.2 -1 predicted p.E222* 0.764 216 0% 173 38.2% 0 - - - - NULL C7orf62 219557 genome.wustl.edu 37 7 88423915 88423915 + Nonsense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152706.2 -1 predicted p.Y114* 0.007 189 0% 200 25.5% 0 - - - - NULL ZNF804B 219578 genome.wustl.edu 37 7 88962899 88962899 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181646.2 +1 provisional p.N201K 0.979 261 0% 184 26.6% 0 - benign(0.253) tolerated(0.22) neutral(0.068) NULL ZNF804B 219578 genome.wustl.edu 37 7 88963246 88963246 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181646.2 +1 provisional p.S317* 0.000 140 0% 109 22% 0 - - - - NULL STEAP1 26872 genome.wustl.edu 37 7 89793829 89793829 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012449.2 +1 reviewed p.I267M 0.712 290 0.3% 210 23.8% 24 25% benign(0.057) tolerated(0.18) neutral(0.060) NULL GTPBP10 85865 genome.wustl.edu 37 7 90014301 90014301 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033107.2 +1 validated p.E333K 0.998 225 0% 187 36.9% 10 20% possibly_damaging(0.626) tolerated(0.41) neutral(0.233) superfamily_P-loop containing nucleoside triphosphate hydrolases AKAP9 10142 genome.wustl.edu 37 7 91630473 91630473 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005751.4 +1 reviewed p.F414 1.000 250 0% 278 30.2% 1 100% - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91632296 91632296 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005751.4 +1 reviewed p.G1022V 0.005 214 0% 205 27.8% 0 - possibly_damaging(0.901) deleterious(0) deleterious(0.801) NULL AKAP9 10142 genome.wustl.edu 37 7 91726928 91726928 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005751.4 +1 reviewed p.R3476K 0.993 239 0% 236 27.5% 6 66.6% probably_damaging(0.997) tolerated(0.27) deleterious(0.500) NULL KRIT1 889 genome.wustl.edu 37 7 91870395 91870395 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004912.3 -1 reviewed p.L58 1.000 97 0% 69 23.2% 3 66.6% - - - NULL ERVW-1 30816 genome.wustl.edu 37 7 92098730 92098730 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014590.3 -1 reviewed p.P322 0.171 213 0% 218 34.9% 0 - - - - HMMPfam_TLV_coat RBM48 84060 genome.wustl.edu 37 7 92164257 92164257 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032120.2 +1 validated p.A330 0.002 79 0% 83 9.6% 9 11.1% - - - NULL SAMD9 54809 genome.wustl.edu 37 7 92731023 92731023 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017654.2 -1 validated p.S1463Y 0.972 337 0% 273 31.5% 4 0% probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL SAMD9 54809 genome.wustl.edu 37 7 92731256 92731256 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017654.2 -1 validated p.K1385N 0.996 377 0% 311 29.6% 3 0% probably_damaging(0.98) tolerated(0.51) neutral(0.433) NULL SAMD9 54809 genome.wustl.edu 37 7 92732765 92732765 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017654.2 -1 validated p.F882L 1.000 146 0% 142 23.2% 0 - possibly_damaging(0.792) tolerated(0.07) deleterious(0.616) NULL SAMD9 54809 genome.wustl.edu 37 7 92733650 92733650 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017654.2 -1 validated p.K587N 1.000 203 0% 170 31.8% 0 - possibly_damaging(0.931) deleterious(0.03) deleterious(0.742) NULL SAMD9 54809 genome.wustl.edu 37 7 92733902 92733902 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017654.2 -1 validated p.E503D 0.953 276 0% 185 28.6% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL SAMD9 54809 genome.wustl.edu 37 7 92734557 92734557 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017654.2 -1 validated p.R285Q 0.950 145 0% 121 38% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL SAMD9L 219285 genome.wustl.edu 37 7 92762528 92762528 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152703.2 -1 validated p.A919 0.008 322 0% 256 25.8% 0 - - - - NULL SAMD9L 219285 genome.wustl.edu 37 7 92763329 92763329 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152703.2 -1 validated p.V652 0.001 486 0.2% 292 32.9% 1 0% - - - NULL SAMD9L 219285 genome.wustl.edu 37 7 92764803 92764803 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152703.2 -1 validated p.L161S 0.000 618 0.2% 416 30.8% 0 - possibly_damaging(0.68) deleterious(0) deleterious(0.687) NULL CCDC132 55610 genome.wustl.edu 37 7 92902039 92902039 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017667.2 +1 validated p.K265N 1.000 62 0% 63 33.3% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF2450 CCDC132 55610 genome.wustl.edu 37 7 92983000 92983000 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017667.2 +1 validated p.R838C 1.000 310 0% 215 60% 12 75% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMPfam_DUF2451 CCDC132 55610 genome.wustl.edu 37 7 92985359 92985359 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000443443 +1 known p.E139K 1.000 131 0% 84 29.8% 26 26.9% - - - HMMPfam_DUF2451 CALCR 799 genome.wustl.edu 37 7 93055784 93055784 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001742.3 -1 reviewed p.D437N 0.000 89 0% 63 19% 0 - benign(0) tolerated(0.36) neutral(0.020) NULL CALCR 799 genome.wustl.edu 37 7 93063565 93063565 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001742.3 -1 reviewed p.E397D 1.000 151 0% 148 12.8% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_SSF81321 CALCR 799 genome.wustl.edu 37 7 93108744 93108744 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001742.3 -1 reviewed p.V43I 0.000 277 0% 252 28.6% 0 - benign(0.001) tolerated(0.33) neutral(0.024) superfamily_SSF111418 COL1A2 1278 genome.wustl.edu 37 7 94057720 94057720 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000089.3 +1 reviewed p.K1214 1.000 169 0% 104 27.9% 2165 0% - - - HMMPfam_COLFI,HMMSmart_SM00038 COL1A2 1278 genome.wustl.edu 37 7 94059571 94059571 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000089.3 +1 reviewed p.E1323* 1.000 165 0% 158 27.8% 1818 0% - - - HMMPfam_COLFI,HMMSmart_SM00038 CASD1 64921 genome.wustl.edu 37 7 94178867 94178867 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022900.4 +1 validated p.S579Y 1.000 174 0% 141 29.8% 5 20% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Cas1p SGCE 8910 genome.wustl.edu 37 7 94228154 94228154 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099401.1 -1 reviewed p.E396K 1.000 159 0% 111 31.5% 32 0% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_Sarcoglycan_2 PEG10 23089 genome.wustl.edu 37 7 94293537 94293537 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040152.1 +1 reviewed p.V223 0.000 99 0% 106 30.2% 28 100% - - - NULL PON2 5445 genome.wustl.edu 37 7 95041011 95041011 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000305.2 -1 reviewed p.N150H 1.000 150 0% 123 27.6% 36 55.5% benign(0.054) tolerated(0.2) neutral(0.053) superfamily_SSF63829 ASB4 51666 genome.wustl.edu 37 7 95157367 95157367 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016116.1 +1 reviewed p.E244K 1.000 67 0% 74 33.8% 0 - benign(0.156) tolerated(0.11) neutral(0.286) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PDK4 5166 genome.wustl.edu 37 7 95216407 95216407 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002612.3 -1 reviewed p.S337Y 1.000 40 0% 30 23.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase PDK4 5166 genome.wustl.edu 37 7 95224471 95224471 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002612.3 -1 reviewed p.E46* 0.240 96 0% 82 31.7% 2 0% - - - HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain SLC25A13 10165 genome.wustl.edu 37 7 95820501 95820501 + Missense_Mutation SNP G G A rs80338719 byCluster TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014251.2 -1 reviewed p.S225L 1.000 294 0% 230 69.6% 25 96% benign(0.123) deleterious(0) neutral(0.455) superfamily_SSF47473 OCM2 4951 genome.wustl.edu 37 7 97616388 97616388 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006188.3 -1 reviewed p.N92T 0.947 219 0% 264 16.3% 0 - benign(0.005) tolerated(0.18) neutral(0.056) HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 LMTK2 22853 genome.wustl.edu 37 7 97822461 97822461 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014916.3 +1 reviewed p.R895Q 0.000 118 0% 92 30.4% 2 0% benign(0.001) tolerated(0.21) neutral(0.044) NULL LMTK2 22853 genome.wustl.edu 37 7 97823079 97823079 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014916.3 +1 reviewed p.R1101Q 1.000 61 0% 59 30.5% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BAIAP2L1 55971 genome.wustl.edu 37 7 97935801 97935801 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018842.4 -1 reviewed p.T397 0.213 132 0% 120 10.8% 81 18.5% - - - HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2 BAIAP2L1 55971 genome.wustl.edu 37 7 97946560 97946560 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018842.4 -1 reviewed p.A153T 0.995 408 0% 390 23.6% 35 51.4% benign(0.074) tolerated(0.07) neutral(0.324) HMMPfam_IMD TRRAP 8295 genome.wustl.edu 37 7 98608830 98608830 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000456197 +1 known p.S3413L 0.995 191 0% 132 31.8% 27 40.7% - - - HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat SMURF1 57154 genome.wustl.edu 37 7 98648572 98648572 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020429.1 -1 reviewed p.E284K 0.981 8 0.000 9 0.556 1 100% unknown(0) tolerated(0.7) - NULL ZNF789 285989 genome.wustl.edu 37 7 99084411 99084411 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_213603.2 +1 validated p.R193Q 0.000 293 0% 297 33.7% 0 - possibly_damaging(0.817) tolerated(0.05) deleterious(0.654) NULL ZKSCAN5 23660 genome.wustl.edu 37 7 99103753 99103753 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014569.3 +1 reviewed p.K29T 0.999 228 0% 238 31.1% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CYP3A7 1551 genome.wustl.edu 37 7 99293455 99293455 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000292414 -1 known p.E504 0.007 69 0% 57 28.1% 0 - - - - NULL CYP3A7 1551 genome.wustl.edu 37 7 99314848 99314848 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000765.3 -1 reviewed p.R158I 0.325 436 0% 293 28.3% 0 - possibly_damaging(0.821) deleterious(0.03) deleterious(0.675) HMMPfam_p450,superfamily_Cytochrome_P450 CYP3A4 1576 genome.wustl.edu 37 7 99359871 99359871 + Missense_Mutation SNP G G A rs10250778 byCluster;byFrequency TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017460.3 -1 reviewed p.T349I 0.010 111 0% 118 41.5% 0 - benign(0.002) deleterious(0.05) neutral(0.345) HMMPfam_p450,superfamily_Cytochrome P450 CYP3A4 1576 genome.wustl.edu 37 7 99366012 99366012 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017460.3 -1 reviewed p.R212I 0.001 351 0% 280 28.2% 0 - unknown(0) deleterious(0) - HMMPfam_p450,superfamily_Cytochrome P450 GJC3 349149 genome.wustl.edu 37 7 99526508 99526508 + Missense_Mutation SNP C C T rs191464858 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181538.2 -1 reviewed p.D246N 0.001 250 0% 243 12.8% 1 0% benign(0.004) tolerated(0.25) neutral(0.037) NULL STAG3 10734 genome.wustl.edu 37 7 99798103 99798103 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012447.2 +1 validated p.P600S 0.951 137 0% 116 37.1% 0 - benign(0.002) tolerated(0.14) neutral(0.249) superfamily_ARM repeat PILRA 29992 genome.wustl.edu 37 7 99996916 99996916 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013439.2 +1 reviewed p.E237G 0.170 226 0% 184 34.2% 18 0% benign(0.002) deleterious(0) neutral(0.445) NULL LRCH4 4034 genome.wustl.edu 37 7 100174734 100174734 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002319.3 -1 reviewed p.A447T 0.000 35 0% 36 33.3% 25 32% probably_damaging(0.979) tolerated(0.84) neutral(0.422) NULL TFR2 7036 genome.wustl.edu 37 7 100226938 100226938 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003227.3 -1 reviewed p.S443F 0.998 181 0% 193 30.1% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases GNB2 2783 genome.wustl.edu 37 7 100275829 100275829 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005273.3 +1 reviewed p.G202 0.525 67 1.5% 31 38.7% 558 41.2% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ZAN 7455 genome.wustl.edu 37 7 100371047 100371047 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003386.1 +1 reviewed p.I1855 0.979 37 0% 48 29.2% 0 - - - - superfamily_Serine proterase inhibitors,HMMPfam_TIL SLC12A9 56996 genome.wustl.edu 37 7 100459099 100459099 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020246.2 +1 validated p.A477T 0.981 126 0% 162 16% 28 17.8% benign(0.033) tolerated(0.1) neutral(0.288) HMMPfam_AA_permease SRRT 51593 genome.wustl.edu 37 7 100479845 100479845 + Silent SNP G G A rs144725595 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000423692 +1 known p.A72T 0.991 108 0% 113 34.5% 41 41.4% - - - NULL SRRT 51593 genome.wustl.edu 37 7 100483967 100483967 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015908.5 +1 validated p.D520N 1.000 62 0% 74 23% 85 42.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MUC3A 4584 genome.wustl.edu 37 7 100550038 100550038 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001725354.2 +1 model p.S207P 0.000 215 0% 202 19.3% 0 - possibly_damaging(0.811) tolerated(0.05) deleterious(0.651) NULL MUC3A 4584 genome.wustl.edu 37 7 100552467 100552467 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001725354.2 +1 model p.G1016 0.002 216 0% 271 16.2% 0 - - - - NULL MUC3A 4584 genome.wustl.edu 37 7 100552578 100552578 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001725354.2 +1 model p.P1053 0.001 210 0% 309 23.3% 0 - - - - NULL MUC3A 4584 genome.wustl.edu 37 7 100606746 100606746 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000319509 +1 known p.K612N 0.110 24 0% 13 53.8% 0 - probably_damaging(0.96) tolerated(0.4) neutral(0.419) HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain MUC17 140453 genome.wustl.edu 37 7 100677107 100677107 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040105.1 +1 provisional p.G804* 0.000 797 0% 509 14.9% 0 - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100680060 100680060 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040105.1 +1 provisional p.S1788L 0.165 433 0.2% 322 31.7% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100682396 100682396 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040105.1 +1 provisional p.S2567A 0.048 344 0% 282 31.9% 0 - benign(0.356) - - NULL MUC17 140453 genome.wustl.edu 37 7 100683040 100683040 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040105.1 +1 provisional p.P2781 0.001 382 0% 373 24.4% 1 0% - - - NULL MUC17 140453 genome.wustl.edu 37 7 100683243 100683243 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040105.1 +1 provisional p.S2849* 0.000 374 0% 345 29.3% 1 0% - - - NULL MUC17 140453 genome.wustl.edu 37 7 100685971 100685971 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040105.1 +1 provisional p.I3758M 0.001 157 0% 153 34.6% 0 - possibly_damaging(0.609) - - NULL SERPINE1 5054 genome.wustl.edu 37 7 100771788 100771788 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000602.3 +1 reviewed p.F38 0.922 134 0% 107 32.7% 16 12.5% - - - HMMPfam_Serpin,superfamily_Prot_inh_serpin CUX1 1523 genome.wustl.edu 37 7 101758501 101758501 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181552.2 +1 reviewed p.R208* 1.000 110 0% 126 32.5% 29 3.4% - - - NULL CUX1 1523 genome.wustl.edu 37 7 101837150 101837150 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181552.2 +1 reviewed p.S369P 0.020 25 0% 34 38.2% 22 45.4% benign(0) tolerated(0.23) neutral(0.042) NULL CUX1 1523 genome.wustl.edu 37 7 101845022 101845022 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181552.2 +1 reviewed p.G815 1.000 35 0% 34 29.4% 1 100% - - - NULL NAPEPLD 222236 genome.wustl.edu 37 7 102760026 102760026 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000420631 -1 known p.R63Q 0.997 176 0% 151 35.8% 3 0% - - - superfamily_Metallo-hydrolase/oxidoreductase NAPEPLD 222236 genome.wustl.edu 37 7 102760658 102760658 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122838.1 -1 validated p.E103* 1.000 210 0% 162 30.9% 2 0% - - - NULL SLC26A5 375611 genome.wustl.edu 37 7 103050936 103050936 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198999.2 -1 reviewed p.R211C 1.000 151 0% 120 31.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Sulfate_transp RELN 5649 genome.wustl.edu 37 7 103183178 103183178 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005045.3 -1 reviewed p.R2224I 1.000 152 0% 172 36% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL RELN 5649 genome.wustl.edu 37 7 103194142 103194142 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005045.3 -1 reviewed p.I1978 1.000 99 0% 97 28.9% 0 - - - - NULL RELN 5649 genome.wustl.edu 37 7 103198469 103198469 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005045.3 -1 reviewed p.D1853Y 1.000 52 0% 59 28.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RELN 5649 genome.wustl.edu 37 7 103202074 103202074 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005045.3 -1 reviewed p.L1812V 1.000 239 0% 196 30.1% 0 - probably_damaging(0.994) tolerated(1) neutral(0.452) NULL RELN 5649 genome.wustl.edu 37 7 103212661 103212661 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005045.3 -1 reviewed p.T1520A 0.914 106 0% 61 29.5% 0 - benign(0.001) deleterious(0.02) neutral(0.383) NULL RELN 5649 genome.wustl.edu 37 7 103214697 103214697 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005045.3 -1 reviewed p.F1451 0.998 180 0% 152 40.1% 0 - - - - NULL RELN 5649 genome.wustl.edu 37 7 103234327 103234327 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005045.3 -1 reviewed p.N1238K 1.000 128 0% 97 36.1% 0 - probably_damaging(0.955) tolerated(0.13) deleterious(0.651) NULL ORC5 5001 genome.wustl.edu 37 7 103828706 103828706 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002553.2 -1 reviewed p.R226K 1.000 94 0% 88 14.8% 17 29.4% possibly_damaging(0.608) tolerated(0.13) neutral(0.463) superfamily_P-loop containing nucleoside triphosphate hydrolases LHFPL3 375612 genome.wustl.edu 37 7 104377275 104377275 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199000.2 +1 reviewed p.A200V 1.000 63 0% 57 33.3% 0 - probably_damaging(0.989) tolerated(0.06) deleterious(0.762) HMMPfam_L_HGMIC_fpl SRPK2 6733 genome.wustl.edu 37 7 104801052 104801052 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182692.1 -1 validated p.M175V 1.000 110 0% 113 32.7% 24 37.5% possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) superfamily_Kinase_like,HMMPfam_Pkinase RINT1 60561 genome.wustl.edu 37 7 105195486 105195486 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021930.4 +1 validated p.N495H 1.000 181 0% 154 23.4% 16 50% benign(0.001) tolerated(0.62) neutral(0.004) HMMPfam_RINT1_TIP1 CDHR3 222256 genome.wustl.edu 37 7 105664850 105664850 + Missense_Mutation SNP G G A rs141787240 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000343407 +1 known p.E201K 0.995 61 0% 90 40% 0 - possibly_damaging(0.553) tolerated(0.22) neutral(0.231) NULL PIK3CG 5294 genome.wustl.edu 37 7 106509371 106509371 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002649.2 +1 reviewed p.K455N 0.042 137 0% 102 28.4% 0 - possibly_damaging(0.52) tolerated(0.13) neutral(0.427) HMMPfam_PI3K_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PIK3CG 5294 genome.wustl.edu 37 7 106509661 106509661 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002649.2 +1 reviewed p.R552H 0.999 135 0% 107 35.5% 0 - possibly_damaging(0.952) tolerated(0.07) deleterious(0.715) HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_ARM repeat PIK3CG 5294 genome.wustl.edu 37 7 106509966 106509966 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002649.2 +1 reviewed p.D654N 1.000 62 0% 70 31.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_ARM repeat GPR22 2845 genome.wustl.edu 37 7 107115210 107115210 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005295.2 +1 reviewed p.L235 0.954 107 0% 92 29.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLC26A4 5172 genome.wustl.edu 37 7 107315540 107315540 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000441.1 +1 reviewed p.L251I 1.000 335 0% 222 35.1% 0 - probably_damaging(0.976) deleterious(0.02) deleterious(0.801) HMMPfam_Sulfate_transp SLC26A4 5172 genome.wustl.edu 37 7 107329498 107329498 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000441.1 +1 reviewed p.G334 1.000 253 0% 278 25.2% 0 - - - - HMMPfam_Sulfate_transp CBLL1 79872 genome.wustl.edu 37 7 107399643 107399643 + RNA SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_024199.1 +1 validated NULL 0.994 136 0% 138 37.7% 17 35.2% - - - - SLC26A3 1811 genome.wustl.edu 37 7 107423293 107423293 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000111.2 -1 reviewed p.I420 0.005 278 0% 193 33.2% 0 - - - - HMMPfam_Sulfate_transp SLC26A3 1811 genome.wustl.edu 37 7 107423486 107423486 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000111.2 -1 reviewed p.F391C 1.000 367 0.3% 246 30.1% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sulfate_transp LAMB1 3912 genome.wustl.edu 37 7 107572753 107572753 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002291.2 -1 reviewed p.E1420K 0.899 205 0% 229 33.2% 75 20% benign(0.148) tolerated(0.24) neutral(0.050) NULL NRCAM 4897 genome.wustl.edu 37 7 107816948 107816948 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037132.1 -1 reviewed p.F1026L 1.000 172 0% 183 28.4% 35 54.2% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NRCAM 4897 genome.wustl.edu 37 7 107866733 107866733 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037132.1 -1 reviewed p.E214K 0.955 328 0% 310 32.9% 17 52.9% benign(0.065) tolerated(0.76) neutral(0.005) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin THAP5 168451 genome.wustl.edu 37 7 108204963 108204963 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130475.1 -1 validated p.S287Y 0.846 178 0% 168 26.8% 10 30% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LRRN3 54674 genome.wustl.edu 37 7 110763330 110763330 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099658.1 +1 validated p.R168* 1.000 206 0% 191 30.9% 0 - - - - HMMSmart_SM00369,superfamily_L domain-like LRRN3 54674 genome.wustl.edu 37 7 110764050 110764050 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099658.1 +1 validated p.R408W 1.000 202 0% 169 27.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like LRRN3 54674 genome.wustl.edu 37 7 110764601 110764601 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099658.1 +1 validated p.I591M 0.999 130 0% 112 30.4% 5 0% possibly_damaging(0.86) deleterious(0.01) deleterious(0.738) HMMPfam_fn3,superfamily_Fibronectin type III DOCK4 9732 genome.wustl.edu 37 7 111382129 111382129 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000445943 -1 known p.D1603G 1.000 139 0% 99 26.3% 3 0% - - - NULL DOCK4 9732 genome.wustl.edu 37 7 111409685 111409685 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014705.3 -1 reviewed p.D1234G 0.999 58 0% 69 29% 0 - benign(0.005) deleterious(0.01) neutral(0.406) NULL DOCK4 9732 genome.wustl.edu 37 7 111512134 111512134 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014705.3 -1 reviewed p.N647H 1.000 13 0% 11 63.6% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL DOCK4 9732 genome.wustl.edu 37 7 111512549 111512549 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014705.3 -1 reviewed p.E606* 1.000 37 0% 18 44.4% 0 - - - - NULL IFRD1 3475 genome.wustl.edu 37 7 112096972 112096972 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007245.1 +1 validated p.A96 0.360 139 0% 112 25.9% 24 41.6% - - - HMMPfam_IFRD,superfamily_ARM repeat C7orf60 154743 genome.wustl.edu 37 7 112461939 112461939 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152556.2 -1 validated p.R360* 1.000 110 0% 95 24.2% 4 25% - - - NULL PPP1R3A 5506 genome.wustl.edu 37 7 113519230 113519230 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002711.3 -1 reviewed p.G639 0.000 385 0.3% 344 32% 0 - - - - NULL PPP1R3A 5506 genome.wustl.edu 37 7 113519633 113519633 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002711.3 -1 reviewed p.S505Y 0.000 234 0% 200 27.5% 0 - possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) NULL PPP1R3A 5506 genome.wustl.edu 37 7 113558817 113558817 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002711.3 -1 reviewed p.E79* 1.000 183 0% 173 31.8% 0 - - - - NULL FOXP2 93986 genome.wustl.edu 37 7 114066663 114066663 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_148898.2 +1 reviewed p.D33N 1.000 139 0% 83 28.9% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TFEC 22797 genome.wustl.edu 37 7 115596742 115596742 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012252.2 -1 validated p.E125* 1.000 64 0% 59 27.1% 2 0% - - - NULL TES 26136 genome.wustl.edu 37 7 115890540 115890540 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000393484 +1 known p.E18* 0.029 55 0% 54 24.1% 79 31.6% benign(0.003) tolerated(0.09) neutral(0.296) NULL MET 4233 genome.wustl.edu 37 7 116339804 116339804 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127500.1 +1 reviewed p.T222 0.000 323 0% 341 26.1% 2 0% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema MET 4233 genome.wustl.edu 37 7 116339908 116339908 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127500.1 +1 reviewed p.N257T 0.976 368 0% 355 28.7% 2 100% benign(0.003) tolerated(0.28) neutral(0.032) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema WNT2 7472 genome.wustl.edu 37 7 116960623 116960623 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003391.2 -1 reviewed p.R103Q 1.000 26 0% 17 23.5% 24 0% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_wnt,HMMSmart_SM00097 ASZ1 136991 genome.wustl.edu 37 7 117003622 117003622 + RNA SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_023315.1 -1 validated NULL 0.000 112 0% 74 33.8% 0 - - - - - ASZ1 136991 genome.wustl.edu 37 7 117008762 117008762 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130768.2 -1 validated p.E355 1.000 184 0% 128 29.7% 0 - - - - NULL CFTR 1080 genome.wustl.edu 37 7 117227829 117227829 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000492.3 +1 reviewed p.L541I 1.000 121 0% 127 32.3% 0 - benign(0.067) tolerated(0.49) neutral(0.015) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD7 56311 genome.wustl.edu 37 7 117864949 117864949 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019644.3 +1 validated p.R22Q 0.000 273 0% 252 26.2% 0 - probably_damaging(0.969) tolerated(0.08) deleterious(0.712) superfamily_Ankyrin repeat KCND2 3751 genome.wustl.edu 37 7 119914938 119914938 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012281.2 +1 reviewed p.F84L 0.989 152 0% 89 25.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCND2 3751 genome.wustl.edu 37 7 119915022 119915022 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012281.2 +1 reviewed p.I112 1.000 166 0% 95 11.6% 1 0% - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCND2 3751 genome.wustl.edu 37 7 119915073 119915073 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012281.2 +1 reviewed p.I129 0.932 115 0% 73 27.4% 0 - - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCND2 3751 genome.wustl.edu 37 7 119915259 119915259 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012281.2 +1 reviewed p.T191 0.001 55 0% 39 28.2% 0 - - - - superfamily_Voltage-gated potassium channels C7orf58 79974 genome.wustl.edu 37 7 120770294 120770294 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024913.4 +1 validated p.V508A 0.934 121 0% 106 38.7% 3 0% benign(0.006) tolerated(0.34) neutral(0.023) NULL WNT16 51384 genome.wustl.edu 37 7 120979054 120979054 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_057168.1 +1 reviewed p.D251 0.958 104 0% 92 22.8% 0 - - - - HMMPfam_wnt,HMMSmart_SM00097 PTPRZ1 5803 genome.wustl.edu 37 7 121637943 121637943 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002851.2 +1 reviewed p.L375I 1.000 73 0% 47 21.3% 0 - benign(0.061) tolerated(1) neutral(0.004) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRZ1 5803 genome.wustl.edu 37 7 121638024 121638024 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002851.2 +1 reviewed p.D402N 1.000 71 0% 59 33.9% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) superfamily_Fibronectin type III PTPRZ1 5803 genome.wustl.edu 37 7 121650542 121650542 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002851.2 +1 reviewed p.R481L 0.997 399 0.3% 321 11.8% 0 - benign(0.002) deleterious(0.02) neutral(0.383) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121651032 121651032 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002851.2 +1 reviewed p.K644N 0.068 170 0% 155 28.4% 0 - benign(0.002) deleterious(0.01) neutral(0.406) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121652021 121652021 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002851.2 +1 reviewed p.S974Y 1.000 252 0% 169 27.2% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121652333 121652333 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002851.2 +1 reviewed p.V1078A 0.759 188 0% 161 30.4% 0 - benign(0.391) deleterious(0) deleterious(0.570) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121676681 121676681 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002851.2 +1 reviewed p.Q1771P 1.000 115 0% 89 32.6% 0 - benign(0.024) tolerated(0.73) neutral(0.003) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRZ1 5803 genome.wustl.edu 37 7 121691958 121691958 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002851.2 +1 reviewed p.E2073K 0.998 67 0% 49 24.5% 0 - probably_damaging(0.996) tolerated(0.31) deleterious(0.489) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II AASS 10157 genome.wustl.edu 37 7 121716600 121716600 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005763.3 -1 reviewed p.L908 1.000 145 0% 106 28.3% 0 - - - - HMMPfam_Saccharop_dh AASS 10157 genome.wustl.edu 37 7 121766508 121766508 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005763.3 -1 reviewed p.I131 0.993 492 0% 408 34.1% 0 - - - - HMMPfam_AlaDh_PNT_N,superfamily_Formate/glycerate dehydrogenase catalytic domain-like FEZF1 389549 genome.wustl.edu 37 7 121943288 121943288 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001024613.2 -1 validated p.C289 1.000 100 1% 70 28.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FEZF1 389549 genome.wustl.edu 37 7 121943769 121943769 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001024613.2 -1 validated p.I241 0.947 105 0% 64 28.1% 0 - - - - NULL TAS2R16 50833 genome.wustl.edu 37 7 122634889 122634889 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016945.2 -1 reviewed p.A267V 0.015 313 0% 299 33.1% 0 - possibly_damaging(0.804) tolerated(0.09) deleterious(0.599) HMMPfam_TAS2R IQUB 154865 genome.wustl.edu 37 7 123152119 123152119 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178827.4 -1 validated p.P92 0.000 275 0% 265 31.7% 0 - - - - NULL ASB15 142685 genome.wustl.edu 37 7 123276904 123276904 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080928.3 +1 validated p.R546* 1.000 247 0% 209 34.4% 0 - - - - HMMPfam_SOCS_box,HMMSmart_SM00253 WASL 8976 genome.wustl.edu 37 7 123335901 123335901 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003941.2 -1 reviewed p.G216 0.953 89 0% 49 30.6% 10 40% - - - HMMPfam_PBD,HMMSmart_PBD,superfamily_WASP_C WASL 8976 genome.wustl.edu 37 7 123344702 123344702 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003941.2 -1 reviewed p.R149Q 1.000 72 0% 38 21.1% 13 38.4% benign(0.129) tolerated(0.25) neutral(0.048) NULL HYAL4 23553 genome.wustl.edu 37 7 123508853 123508853 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012269.2 +1 reviewed p.K176Q 0.000 176 0% 150 34% 0 - benign(0) tolerated(0.36) neutral(0.020) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat HYAL4 23553 genome.wustl.edu 37 7 123509141 123509141 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012269.2 +1 reviewed p.E272* 0.003 152 0% 129 31% 0 - - - - HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat SPAM1 6677 genome.wustl.edu 37 7 123593822 123593822 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003117.4 +1 reviewed p.E66D 0.000 135 0% 124 22.6% 0 - benign(0.008) tolerated(0.53) neutral(0.007) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat SPAM1 6677 genome.wustl.edu 37 7 123594321 123594321 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003117.4 +1 reviewed p.G233S 0.000 256 0% 255 29.8% 0 - benign(0.007) tolerated(0.68) neutral(0.002) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat SPAM1 6677 genome.wustl.edu 37 7 123599537 123599537 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003117.4 +1 reviewed e3-1 0.999 155 0% 151 31.8% 0 - - - - - GRM8 2918 genome.wustl.edu 37 7 126086178 126086178 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000845.2 -1 reviewed e9+2 1.000 333 0% 305 28.2% 0 - - - - - GRM8 2918 genome.wustl.edu 37 7 126746631 126746631 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000845.2 -1 reviewed p.N216D 1.000 137 0% 109 30.3% 0 - possibly_damaging(0.804) deleterious(0) deleterious(0.747) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM8 2918 genome.wustl.edu 37 7 126882826 126882826 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000845.2 -1 reviewed p.D145N 1.000 129 0% 102 25.5% 0 - benign(0.121) tolerated(0.31) neutral(0.036) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ZNF800 168850 genome.wustl.edu 37 7 127014946 127014946 + Silent SNP C C T rs185441151 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000265827 -1 known p.S148 1.000 277 0% 204 25.5% 2 50% - - - NULL GCC1 79571 genome.wustl.edu 37 7 127222675 127222675 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024523.5 -1 reviewed p.F574S 1.000 68 0% 45 26.7% 9 33.3% possibly_damaging(0.512) tolerated(0.14) neutral(0.421) NULL ARF5 381 genome.wustl.edu 37 7 127230165 127230165 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001662.2 +1 reviewed p.E102* 1.000 76 0% 59 10.2% 544 0% - - - HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases PAX4 5078 genome.wustl.edu 37 7 127254987 127254987 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006193.2 -1 reviewed p.I95V 1.000 100 0% 96 31.2% 0 - benign(0.027) deleterious(0.02) neutral(0.385) HMMPfam_PAX,HMMSmart_PAX,superfamily_Homeodomain_like LRRC4 64101 genome.wustl.edu 37 7 127669998 127669998 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022143.4 -1 validated p.E232D 1.000 38 0% 36 30.6% 3 66.6% benign(0.362) deleterious(0.02) deleterious(0.498) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like LEP 3952 genome.wustl.edu 37 7 127892098 127892098 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000230.2 +1 reviewed p.F9L 0.975 272 0% 278 33.5% 0 - benign(0.04) tolerated(0.4) neutral(0.018) NULL METTL2B 55798 genome.wustl.edu 37 7 128119315 128119315 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018396.2 +1 reviewed p.E102 0.977 171 0% 182 31.9% 17 58.8% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases OPN1SW 611 genome.wustl.edu 37 7 128414652 128414652 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001708.2 -1 reviewed p.R196H 0.986 85 0% 121 29.8% 0 - benign(0.004) tolerated(0.27) neutral(0.034) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCDC136 64753 genome.wustl.edu 37 7 128455900 128455900 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022742.3 +1 validated p.D1093G 0.008 167 0% 192 35.9% 0 - benign(0.076) deleterious(0.02) neutral(0.389) NULL TNPO3 23534 genome.wustl.edu 37 7 128619052 128619052 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012470.2 -1 validated p.Q682 1.000 289 0% 274 32.5% 36 30.5% - - - superfamily_ARM repeat AHCYL2 23382 genome.wustl.edu 37 7 129019560 129019560 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015328.2 +1 validated p.S149P 1.000 130 0% 121 28.9% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM40B 57464 genome.wustl.edu 37 7 129091523 129091523 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020704.2 +1 validated p.R115Q 0.995 49 0% 68 30.9% 0 - possibly_damaging(0.673) tolerated(0.94) neutral(0.239) HMMPfam_N1221 KLHDC10 23008 genome.wustl.edu 37 7 129769339 129769339 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014997.2 +1 validated p.L348 1.000 255 0% 174 28.7% 18 88.8% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain TMEM209 84928 genome.wustl.edu 37 7 129832634 129832634 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032842.3 -1 validated p.S201 0.975 95 0% 88 26.1% 17 29.4% - - - HMMPfam_CytochromB561_N CPA4 51200 genome.wustl.edu 37 7 129950688 129950688 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016352.3 +1 reviewed p.E285 0.981 123 0% 124 26.6% 1 0% - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases COPG2 26958 genome.wustl.edu 37 7 130295860 130295860 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000445977 -1 known p.R234Q 1.000 220 0% 183 26.8% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM repeat MKLN1 4289 genome.wustl.edu 37 7 131128396 131128396 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013255.4 +1 validated p.D444N 1.000 224 0% 190 13.2% 17 17.6% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Galactose oxidase central domain MKLN1 4289 genome.wustl.edu 37 7 131172430 131172430 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013255.4 +1 validated p.F717L 1.000 135 0.7% 124 32.3% 27 59.2% possibly_damaging(0.748) deleterious(0.01) deleterious(0.680) NULL PODXL 5420 genome.wustl.edu 37 7 131194159 131194159 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001018111.2 -1 reviewed p.T330P 0.000 43 0% 42 31% 18 38.8% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL LOC647030 647030 genome.wustl.edu 37 7 131346984 131346984 + RNA SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_017470.3 -1 model NULL 0.999 763 0% 666 30.9% 114 0% - - - - PLXNA4 91584 genome.wustl.edu 37 7 131825506 131825506 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020911.1 -1 validated p.N1764H 1.000 251 0% 211 30.8% 1 0% benign(0.394) deleterious(0.01) deleterious(0.532) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA4 91584 genome.wustl.edu 37 7 131865362 131865362 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020911.1 -1 validated p.G1208S 1.000 74 0% 83 19.3% 0 - benign(0.047) tolerated(0.1) neutral(0.289) HMMSmart_SM00429,superfamily_E set domains PLXNA4 91584 genome.wustl.edu 37 7 132192613 132192613 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020911.1 -1 validated p.L280 0.057 67 0% 64 26.6% 0 - - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain EXOC4 60412 genome.wustl.edu 37 7 132959852 132959852 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021807.3 +1 reviewed p.E68* 1.000 284 0% 225 21.8% 5 0% - - - HMMPfam_Sec8_exocyst CALD1 800 genome.wustl.edu 37 7 134613553 134613553 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033138.3 +1 reviewed p.E40 1.000 40 0% 40 27.5% 36 0% - - - HMMPfam_Caldesmon FAM180A 389558 genome.wustl.edu 37 7 135418799 135418799 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_205855.3 -1 validated p.A149V 1.000 40 0% 35 40% 0 - probably_damaging(0.953) tolerated(0.12) deleterious(0.657) NULL CHRM2 1129 genome.wustl.edu 37 7 136700449 136700449 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000739.2 +1 reviewed p.E279D 1.000 225 0% 175 33.7% 0 - benign(0.012) tolerated(0.37) neutral(0.019) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DGKI 9162 genome.wustl.edu 37 7 137255980 137255980 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004717.2 -1 reviewed p.E630K 1.000 97 0% 70 28.6% 0 - probably_damaging(0.989) tolerated(0.12) deleterious(0.700) HMMPfam_DAGK_acc,HMMSmart_DAGKa DGKI 9162 genome.wustl.edu 37 7 137363389 137363389 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004717.2 -1 reviewed p.V174M 0.938 288 0.3% 248 29% 0 - possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) NULL AKR1D1 6718 genome.wustl.edu 37 7 137798460 137798460 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005989.2 +1 validated p.E294* 1.000 39 0% 55 29.1% 0 - - - - HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red TTC26 79989 genome.wustl.edu 37 7 138872249 138872249 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024926.2 +1 validated p.G506D 1.000 307 0% 213 29.1% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBN2 254048 genome.wustl.edu 37 7 138951117 138951117 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173569.3 +1 validated p.F395L 1.000 144 0% 107 32.7% 1 0% probably_damaging(0.994) tolerated(0.08) deleterious(0.752) NULL UBN2 254048 genome.wustl.edu 37 7 138968377 138968377 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173569.3 +1 validated p.S826Y 1.000 235 0% 250 26.4% 3 0% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL TBXAS1 6916 genome.wustl.edu 37 7 139657487 139657487 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001061.4 +1 reviewed p.R249Q 1.000 147 0% 105 31.4% 10 0% possibly_damaging(0.85) tolerated(0.13) deleterious(0.580) HMMPfam_p450,superfamily_Cytochrome P450 SLC37A3 84255 genome.wustl.edu 37 7 140051902 140051902 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207113.1 -1 validated p.I221 0.529 75 0% 75 28% 4 25% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter RAB19 401409 genome.wustl.edu 37 7 140107637 140107637 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008749.2 +1 validated p.K64T 1.000 67 0% 84 23.8% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 DENND2A 27147 genome.wustl.edu 37 7 140219460 140219460 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015689.3 -1 validated p.S990 0.979 104 0% 94 25.5% 1 0% - - - NULL AGK 55750 genome.wustl.edu 37 7 141341162 141341162 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018238.3 +1 validated p.R281* 0.300 273 0% 231 29.4% 4 0% - - - NULL TAS2R5 54429 genome.wustl.edu 37 7 141490276 141490276 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018980.2 +1 reviewed p.F39V 0.000 139 0% 150 26.7% 0 - benign(0.124) tolerated(0.06) neutral(0.333) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R5 54429 genome.wustl.edu 37 7 141490388 141490388 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018980.2 +1 reviewed p.R76H 0.000 146 0% 159 30.2% 0 - possibly_damaging(0.546) tolerated(0.15) neutral(0.426) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like CLEC5A 23601 genome.wustl.edu 37 7 141629972 141629972 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013252.2 -1 reviewed p.T167A 0.390 168 0% 88 33% 2 0% benign(0.106) tolerated(0.22) neutral(0.050) HMMSmart_SM00034,superfamily_C-type lectin-like TAS2R38 5726 genome.wustl.edu 37 7 141672668 141672668 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176817.4 -1 reviewed p.R274 0.002 138 0% 137 35.8% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 MGAM 8972 genome.wustl.edu 37 7 141708421 141708421 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004668.2 +1 reviewed p.T81 0.000 137 0% 109 26.6% 0 - - - - NULL MGAM 8972 genome.wustl.edu 37 7 141708461 141708461 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004668.2 +1 reviewed p.E95* 0.073 165 0% 137 30.7% 0 - - - - HMMPfam_Trefoil MGAM 8972 genome.wustl.edu 37 7 141765569 141765569 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000475668 +1 known p.R1570C 1.000 86 0% 70 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases MGAM 8972 genome.wustl.edu 37 7 141786119 141786119 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000475668 +1 known p.V2247 0.987 82 0% 73 28.8% 0 - - - - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases TRBV7-1 28597 genome.wustl.edu 37 7 142032362 142032362 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390354 +1 known p.G61D 0.000 71 0% 92 31.5% 0 - probably_damaging(0.985) tolerated(0.16) deleterious(0.491) HMMPfam_V-set,superfamily_SSF48726 TRBV5-6 28609 genome.wustl.edu 37 7 142131838 142131838 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390375 -1 known p.L14M 0.574 211 0% 175 29.7% 1 0% possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) NULL TRBV5-5 28610 genome.wustl.edu 37 7 142149022 142149022 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390372 -1 known p.F83L 0.761 357 0% 336 28% 0 - possibly_damaging(0.866) deleterious(0.01) deleterious(0.741) HMMPfam_V-set,superfamily_Immunoglobulin TRBV5-4 28611 genome.wustl.edu 37 7 142168615 142168615 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000454561 -1 known p.Q36 0.004 289 0% 258 25.2% 0 - - - - HMMPfam_V-set,superfamily_Immunoglobulin TRBV7-3 28595 genome.wustl.edu 37 7 142247177 142247177 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390361 -1 known p.V93 0.008 146 0% 132 35.6% 0 - - - - HMMPfam_V-set,superfamily_Immunoglobulin PRSS1 5644 genome.wustl.edu 37 7 142458437 142458437 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002769.3 +1 reviewed p.I24 0.993 251 0% 228 24.1% 95 43.1% - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys EPHB6 2051 genome.wustl.edu 37 7 142566296 142566296 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004445.3 +1 reviewed p.R695 0.849 45 0% 51 43.1% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TRPV6 55503 genome.wustl.edu 37 7 142583225 142583225 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018646.2 -1 validated p.L13I 0.997 104 0% 87 23% 0 - unknown(0) deleterious(0) - superfamily_Ankyrin repeat TRPV5 56302 genome.wustl.edu 37 7 142606687 142606687 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019841.4 -1 reviewed p.E622K 0.456 130 0% 162 32.7% 0 - benign(0.001) tolerated(0.64) neutral(0.003) NULL TRPV5 56302 genome.wustl.edu 37 7 142612140 142612140 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019841.4 -1 reviewed p.S455P 1.000 87 0% 100 26% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_Ion_trans TRPV5 56302 genome.wustl.edu 37 7 142622670 142622670 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019841.4 -1 reviewed p.R359H 0.997 70 0% 69 23.2% 0 - benign(0.03) tolerated(0.36) neutral(0.022) NULL KEL 3792 genome.wustl.edu 37 7 142643397 142643397 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000420.2 -1 reviewed p.R404H 0.000 76 0% 58 32.8% 0 - benign(0.001) tolerated(0.55) neutral(0.007) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" OR6V1 346517 genome.wustl.edu 37 7 142749962 142749962 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001667.1 +1 provisional p.F175L 0.981 358 0% 332 30.4% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PIP 5304 genome.wustl.edu 37 7 142829278 142829278 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002652.2 +1 validated p.L23F 0.021 355 0% 432 25.7% 0 - possibly_damaging(0.578) tolerated(0.07) deleterious(0.518) HMMPfam_SVA TAS2R39 259285 genome.wustl.edu 37 7 142880877 142880877 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176881.2 +1 provisional p.F122L 0.000 402 0.2% 420 34.8% 0 - benign(0.157) tolerated(0.24) neutral(0.051) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R39 259285 genome.wustl.edu 37 7 142881415 142881415 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176881.2 +1 provisional p.A302P 0.829 150 0% 149 36.2% 0 - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R60 338398 genome.wustl.edu 37 7 143141092 143141092 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177437.1 +1 provisional p.D183N 0.000 617 0% 628 28.7% 0 - benign(0) tolerated(0.97) - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R60 338398 genome.wustl.edu 37 7 143141117 143141117 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177437.1 +1 provisional p.K191I 0.001 652 0% 640 30.3% 0 - benign(0.106) tolerated(0.17) neutral(0.067) HMMPfam_TAS2R,superfamily_SSF81321 CTAGE6P 340307 genome.wustl.edu 37 7 143454163 143454163 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178561.4 -1 validated p.T197A 0.030 586 0% 475 8.8% 1 0% - - - NULL FAM115A 9747 genome.wustl.edu 37 7 143573387 143573387 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014719.1 -1 predicted p.L105 0.954 217 0% 188 22.3% 6 66.6% - - - NULL FAM115A 9747 genome.wustl.edu 37 7 143573567 143573567 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014719.1 -1 predicted p.G45 0.999 113 0% 128 31.2% 7 57.1% - - - NULL OR2F1 26211 genome.wustl.edu 37 7 143657094 143657094 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012369.2 +1 provisional p.E11* 0.001 560 0% 423 31.9% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR2A5 393046 genome.wustl.edu 37 7 143747674 143747674 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012365.1 +1 provisional p.F60L 0.995 359 0% 299 32.8% 0 - benign(0.085) deleterious(0.01) neutral(0.412) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2A5 393046 genome.wustl.edu 37 7 143747828 143747828 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012365.1 +1 provisional p.C112R 0.876 413 0% 382 14.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR2A2 442361 genome.wustl.edu 37 7 143807425 143807425 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005480.2 +1 validated p.F250L 0.762 221 0% 243 30.9% 0 - benign(0.085) deleterious(0) neutral(0.451) HMMPfam_7tm_1,superfamily_SSF81321 OR2A7 401427 genome.wustl.edu 37 7 143955889 143955889 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005328.1 -1 provisional p.S278T 0.985 665 0% 496 13.1% 1 0% probably_damaging(0.973) tolerated(0.62) neutral(0.419) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARHGEF5 7984 genome.wustl.edu 37 7 144060518 144060518 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005435.3 +1 reviewed p.A252 0.000 3700 0% 3233 12.6% 8 0% - - - NULL ARHGEF5 7984 genome.wustl.edu 37 7 144075859 144075859 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000474817 +1 known p.P712L 1.000 361 0% 311 27.3% 26 53.8% - - - superfamily_SH3-domain CNTNAP2 26047 genome.wustl.edu 37 7 147600793 147600793 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014141.5 +1 reviewed p.C745 0.217 32 0% 61 32.8% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases CNTNAP2 26047 genome.wustl.edu 37 7 147844734 147844734 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014141.5 +1 reviewed p.P902 0.995 89 1.1% 76 19.7% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CNTNAP2 26047 genome.wustl.edu 37 7 147869506 147869506 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014141.5 +1 reviewed p.E982D 1.000 201 0% 167 29.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00181 CNTNAP2 26047 genome.wustl.edu 37 7 147926752 147926752 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014141.5 +1 reviewed p.R1088* 0.997 358 0% 269 31.2% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EZH2 2146 genome.wustl.edu 37 7 148512044 148512044 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004456.3 -1 reviewed p.Q545P 1.000 90 0% 45 37.8% 17 52.9% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) superfamily_SSF82199 EZH2 2146 genome.wustl.edu 37 7 148513776 148513776 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004456.3 -1 reviewed p.R502Q 1.000 72 0% 64 20.3% 14 28.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF82199 ZNF777 27153 genome.wustl.edu 37 7 149129023 149129023 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015694.2 -1 validated p.C780 1.000 52 0% 34 23.5% 27 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100288645 100288645 genome.wustl.edu 37 7 149152117 149152117 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342805.1 +1 model p.R30I 0.000 44 0% 51 33.3% 0 - - - - NULL SSPO 23145 genome.wustl.edu 37 7 149475974 149475974 + Missense_Mutation SNP G G A rs144815905 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000378016 +1 known p.E314K 0.988 21 0% 30 23.3% 1 0% - - - HMMPfam_VWD,HMMSmart_SM00216 SSPO 23145 genome.wustl.edu 37 7 149515811 149515811 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000378016 +1 known p.W3904* 0.774 14 0.000 7 0.571 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ZNF862 643641 genome.wustl.edu 37 7 149558040 149558040 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099220.1 +1 provisional p.T597 0.619 38 0% 33 27.3% 1 100% - - - NULL GIMAP4 55303 genome.wustl.edu 37 7 150269375 150269375 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018326.2 +1 reviewed p.S73G 0.000 192 0% 182 29.1% 13 0% probably_damaging(0.965) tolerated(0.24) neutral(0.444) HMMPfam_AIG1,superfamily_SSF52540 GIMAP4 55303 genome.wustl.edu 37 7 150270043 150270043 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018326.2 +1 reviewed p.Q295H 0.000 367 0% 363 34.2% 23 0% possibly_damaging(0.924) deleterious(0.02) deleterious(0.756) NULL ABP1 26 genome.wustl.edu 37 7 150554962 150554962 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001091.2 +1 reviewed p.I468 1.000 81 0% 66 27.3% 15 66.6% - - - HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain NOS3 4846 genome.wustl.edu 37 7 150698682 150698682 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000603.4 +1 reviewed p.K493N 0.999 95 0% 91 12.1% 6 0% possibly_damaging(0.904) deleterious(0.04) deleterious(0.708) NULL AGAP3 116988 genome.wustl.edu 37 7 150815686 150815686 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000467724 +1 known p.P85L 0.969 177 0% 140 37.1% 35 14.2% - - - NULL CHPF2 54480 genome.wustl.edu 37 7 150931335 150931335 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019015.1 +1 provisional p.N80D 1.000 33 0% 40 22.5% 39 20.5% benign(0.005) tolerated(0.81) neutral(0.001) NULL GALNT11 63917 genome.wustl.edu 37 7 151802422 151802422 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022087.2 +1 validated p.R227* 1.000 228 0% 167 28.7% 10 0% - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNT11 63917 genome.wustl.edu 37 7 151807728 151807728 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022087.2 +1 validated p.R360W 1.000 311 0% 266 34.6% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nucleotide-diphospho-sugar transferases MLL3 58508 genome.wustl.edu 37 7 151836855 151836855 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170606.2 -1 reviewed p.R4789* 1.000 237 0% 157 22.9% 8 37.5% - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain MLL3 58508 genome.wustl.edu 37 7 151873381 151873381 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170606.2 -1 reviewed p.L3053I 1.000 118 0% 131 38.9% 1 0% probably_damaging(0.995) - - NULL MLL3 58508 genome.wustl.edu 37 7 151877958 151877958 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170606.2 -1 reviewed p.G2329 0.005 93 0% 93 24.7% 3 0% - - - NULL MLL3 58508 genome.wustl.edu 37 7 151884866 151884866 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170606.2 -1 reviewed p.S1576Y 0.934 377 0% 267 28.8% 0 - probably_damaging(0.992) - - NULL MLL3 58508 genome.wustl.edu 37 7 151904508 151904508 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170606.2 -1 reviewed p.E1240* 1.000 265 0% 218 28% 0 - - - - NULL MLL3 58508 genome.wustl.edu 37 7 151919101 151919101 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170606.2 -1 reviewed p.K1162Q 1.000 236 0% 168 29.2% 0 - probably_damaging(0.977) - - NULL MLL3 58508 genome.wustl.edu 37 7 151944997 151944997 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170606.2 -1 reviewed p.R841Q 0.989 885 0% 743 9.8% 6 83.3% probably_damaging(1) - - NULL MLL3 58508 genome.wustl.edu 37 7 152012244 152012244 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170606.2 -1 reviewed p.R190Q 0.980 329 0% 301 29.2% 1 100% probably_damaging(0.995) - - NULL DPP6 1804 genome.wustl.edu 37 7 154172036 154172036 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000377770 +1 known p.S124N 0.996 192 0% 163 28.8% 0 - probably_damaging(0.996) tolerated(0.59) neutral(0.466) NULL DPP6 1804 genome.wustl.edu 37 7 154237637 154237637 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000377770 +1 known p.E160K 1.000 65 0% 49 12.2% 0 - benign(0.122) tolerated(0.1) neutral(0.296) superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain LOC100132707 100132707 genome.wustl.edu 37 7 154738352 154738352 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_024476.1 +1 validated NULL 0.001 82 0% 74 25.7% 2 0% - - - - CNPY1 285888 genome.wustl.edu 37 7 155301672 155301672 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001103176.1 -1 validated p.A21T 0.995 95 0% 82 23.2% 0 - probably_damaging(0.998) tolerated(0.32) deleterious(0.498) NULL RBM33 155435 genome.wustl.edu 37 7 155499557 155499557 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053043.2 +1 validated p.L248R 1.000 47 0% 25 20% 1 0% unknown(0) deleterious(0) - NULL LMBR1 64327 genome.wustl.edu 37 7 156549156 156549156 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022458.3 -1 reviewed p.L230I 1.000 202 0% 153 30.7% 8 50% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) HMMPfam_LMBR1 NOM1 64434 genome.wustl.edu 37 7 156762286 156762286 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138400.1 +1 provisional p.F824L 1.000 276 0% 237 31.6% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UBE3C 9690 genome.wustl.edu 37 7 156974813 156974813 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014671.2 +1 validated p.F261C 1.000 157 0% 123 32.5% 30 23.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PTPRN2 5799 genome.wustl.edu 37 7 157341694 157341694 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002847.3 -1 reviewed p.I974 1.000 145 0% 109 30.3% 4 50% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRN2 5799 genome.wustl.edu 37 7 157691371 157691371 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002847.3 -1 reviewed p.V594 0.000 196 0% 179 27.4% 1 0% - - - NULL PTPRN2 5799 genome.wustl.edu 37 7 157926682 157926682 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002847.3 -1 reviewed p.L415I 0.000 60 0% 94 31.9% 4 0% possibly_damaging(0.718) tolerated(0.24) neutral(0.297) NULL WDR60 55112 genome.wustl.edu 37 7 158669320 158669320 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018051.4 +1 validated p.E171K 0.792 76 0% 54 29.6% 2 50% possibly_damaging(0.786) tolerated(0.53) neutral(0.302) superfamily_WD40 repeat-like WDR60 55112 genome.wustl.edu 37 7 158715071 158715071 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018051.4 +1 validated p.R642Q 0.997 104 0% 81 32.1% 5 40% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_WD40 repeat-like WDR60 55112 genome.wustl.edu 37 7 158718905 158718905 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018051.4 +1 validated p.R762Q 0.001 46 0% 34 20.6% 5 60% benign(0.023) tolerated(0.3) neutral(0.030) superfamily_WD40 repeat-like ZNF596 169270 genome.wustl.edu 37 8 196239 196239 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042415.1 +1 validated p.L464 0.001 198 0% 165 31.5% 1 100% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 DLGAP2 9228 genome.wustl.edu 37 8 1513983 1513983 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004745.3 +1 reviewed p.K375N 0.831 38 0% 47 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYOM2 9172 genome.wustl.edu 37 8 2021538 2021538 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003970.2 +1 validated p.R360W 0.964 34 0% 21 23.8% 0 - benign(0.007) deleterious(0.04) neutral(0.349) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 MYOM2 9172 genome.wustl.edu 37 8 2044163 2044163 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003970.2 +1 validated p.P734 0.000 151 0% 142 26.8% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like MYOM2 9172 genome.wustl.edu 37 8 2088658 2088658 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003970.2 +1 validated p.I1271 0.588 184 0% 198 24.2% 3 0% - - - superfamily_SSF48726 MYOM2 9172 genome.wustl.edu 37 8 2092630 2092630 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003970.2 +1 validated p.E1375K 1.000 190 0% 166 30.7% 14 57.1% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CSMD1 64478 genome.wustl.edu 37 8 2813234 2813234 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033225.5 -1 validated p.L3292I 1.000 119 0% 104 30.8% 0 - probably_damaging(1) tolerated(0.26) deleterious(0.534) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 2815227 2815227 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033225.5 -1 validated p.E3270K 0.998 16 0% 15 33.3% 0 - probably_damaging(0.971) tolerated(0.24) neutral(0.450) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 2967840 2967840 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033225.5 -1 validated p.V2151I 0.976 19 0% 33 33.3% 0 - benign(0.073) tolerated(1) neutral(0.005) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3443700 3443700 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033225.5 -1 validated p.E395* 1.000 64 0% 63 28.6% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 4495007 4495007 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033225.5 -1 validated p.P53 0.296 153 0% 134 37.3% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MCPH1 79648 genome.wustl.edu 37 8 6302112 6302112 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024596.3 +1 reviewed p.K290T 0.000 102 0% 96 39.6% 5 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ANGPT2 285 genome.wustl.edu 37 8 6420363 6420363 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001147.2 -1 reviewed p.K31N 0.974 103 0% 80 25% 2 0% possibly_damaging(0.61) deleterious(0) deleterious(0.656) NULL AGPAT5 55326 genome.wustl.edu 37 8 6612576 6612576 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018361.3 +1 reviewed p.F250 1.000 66 0% 66 33.3% 26 42.3% - - - superfamily_SSF69593 ENSG00000221567 0 genome.wustl.edu 37 8 7055973 7055973 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000408640 +1 novel NULL 0.031 109 0% 121 47.1% 0 - - - - - USP17L1P 401447 genome.wustl.edu 37 8 7190680 7190680 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000382655 +1 known p.L258I 0.029 134 0% 129 20.9% 0 - - - - HMMPfam_UCH,superfamily_SSF54001 USP17L1P 401447 genome.wustl.edu 37 8 7190721 7190721 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000382655 +1 known p.T271 0.000 122 0% 117 15.4% 0 - - - - HMMPfam_UCH,superfamily_SSF54001 ZNF705G 100131980 genome.wustl.edu 37 8 7215867 7215867 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000400156 -1 known p.E178 0.966 747 0.1% 659 12.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RP1L1 94137 genome.wustl.edu 37 8 10466150 10466150 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178857.5 -1 validated p.A1820T 0.000 587 0% 385 31.7% 0 - unknown(0) tolerated(0.48) - HMMPfam_S-antigen RP1L1 94137 genome.wustl.edu 37 8 10467572 10467572 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178857.5 -1 validated p.G1346* 0.001 224 0% 165 29.7% 0 - - - - NULL SOX7 83595 genome.wustl.edu 37 8 10583419 10583419 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031439.2 -1 reviewed p.F332 0.970 58 0% 44 34.1% 0 - - - - NULL XKR6 286046 genome.wustl.edu 37 8 10756282 10756282 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173683.3 -1 provisional p.S369* 1.000 304 0% 332 36.1% 0 - - - - HMMPfam_XK-related MTMR9 66036 genome.wustl.edu 37 8 11177228 11177228 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015458.3 +1 reviewed p.S456Y 1.000 145 0% 139 27.3% 7 42.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF52799 MTMR9 66036 genome.wustl.edu 37 8 11180244 11180244 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015458.3 +1 reviewed p.R533* 0.879 109 0% 84 33.3% 9 44.4% - - - NULL USP17L2 377630 genome.wustl.edu 37 8 11995979 11995979 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201402.2 -1 validated p.C97* 0.998 254 0% 223 17.5% 0 - - - - HMMPfam_UCH,superfamily_SSF54001 LOC100287066 100287066 genome.wustl.edu 37 8 12147691 12147691 + Nonsense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342839.1 -1 model p.Y33* 0.116 37 0% 33 27.3% 0 - - - - NULL TUSC3 7991 genome.wustl.edu 37 8 15517109 15517109 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006765.2 +1 reviewed p.A174T 1.000 167 0% 125 28% 10 0% benign(0.424) tolerated(0.19) neutral(0.187) HMMPfam_OST3_OST6,superfamily_Thioredoxin-like TUSC3 7991 genome.wustl.edu 37 8 15605946 15605946 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006765.2 +1 reviewed p.R334C 1.000 373 0% 298 30.2% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OST3_OST6 MSR1 4481 genome.wustl.edu 37 8 16026012 16026012 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138715.2 -1 reviewed p.E195D 0.000 153 0% 161 32.3% 4 0% possibly_damaging(0.608) deleterious(0.01) deleterious(0.616) NULL ZDHHC2 51201 genome.wustl.edu 37 8 17055906 17055906 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016353.4 +1 validated p.D154Y 1.000 155 0% 90 40% 6 33.3% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_zf-DHHC ZDHHC2 51201 genome.wustl.edu 37 8 17067516 17067516 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016353.4 +1 validated p.R269Q 0.995 73 0% 56 28.6% 3 0% benign(0.164) tolerated(0.55) neutral(0.022) NULL MTMR7 9108 genome.wustl.edu 37 8 17206499 17206499 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004686.4 -1 reviewed p.R187Q 1.000 211 0% 156 31.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II MTMR7 9108 genome.wustl.edu 37 8 17218682 17218682 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004686.4 -1 reviewed p.R138W 0.991 249 0% 199 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_(Phosphotyrosine protein) phosphatases II SLC7A2 6542 genome.wustl.edu 37 8 17407901 17407901 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003046.5 +1 validated p.C304R 1.000 53 0% 55 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease SLC7A2 6542 genome.wustl.edu 37 8 17409358 17409358 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003046.5 +1 validated p.V346 0.981 191 0% 191 39.8% 0 - - - - HMMPfam_AA_permease SLC7A2 6542 genome.wustl.edu 37 8 17419540 17419540 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003046.5 +1 validated p.A570V 0.000 162 0% 186 28% 0 - benign(0) tolerated(1) - NULL MTUS1 57509 genome.wustl.edu 37 8 17507370 17507370 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001924.2 -1 reviewed p.M1162I 1.000 276 0% 236 24.6% 19 26.3% possibly_damaging(0.452) tolerated(0.28) neutral(0.179) NULL MTUS1 57509 genome.wustl.edu 37 8 17554819 17554819 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020749.4 -1 reviewed p.R23Q 1.000 277 0% 297 27.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTUS1 57509 genome.wustl.edu 37 8 17601176 17601176 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001924.2 -1 reviewed p.N742H 0.001 153 0% 122 29.5% 8 37.5% benign(0.002) deleterious(0.04) neutral(0.349) NULL MTUS1 57509 genome.wustl.edu 37 8 17611488 17611488 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001924.2 -1 reviewed p.S610L 0.906 243 0% 208 31.7% 2 100% benign(0) tolerated(0.39) neutral(0.016) NULL PCM1 5108 genome.wustl.edu 37 8 17794695 17794695 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006197.3 +1 validated p.K50T 1.000 28 0% 32 43.8% 4 0% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL PCM1 5108 genome.wustl.edu 37 8 17822266 17822266 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006197.3 +1 validated p.E948D 0.993 169 0% 150 30.7% 6 50% benign(0.183) tolerated(0.41) neutral(0.032) NULL NAT2 10 genome.wustl.edu 37 8 18257539 18257539 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000015.2 +1 reviewed p.R9I 1.000 370 0% 310 27.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF54001 NAT2 10 genome.wustl.edu 37 8 18258288 18258288 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000015.2 +1 reviewed p.T259A 0.002 176 0% 172 25% 0 - benign(0) tolerated(0.7) neutral(0.002) HMMPfam_Acetyltransf_2,superfamily_SSF54001 PSD3 23362 genome.wustl.edu 37 8 18432689 18432689 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015310.3 -1 validated p.N863S 0.969 338 0% 326 27.6% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PSD3 23362 genome.wustl.edu 37 8 18656820 18656820 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015310.3 -1 validated p.T689 0.002 148 0% 102 29.4% 1 0% - - - HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7 PSD3 23362 genome.wustl.edu 37 8 18729300 18729300 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015310.3 -1 validated p.E358D 0.000 313 0% 330 37.6% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL SH2D4A 63898 genome.wustl.edu 37 8 19190570 19190570 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022071.3 +1 validated p.E96* 0.989 58 0% 60 33.3% 0 - - - - NULL CSGALNACT1 55790 genome.wustl.edu 37 8 19263255 19263255 + RNA SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_024040.1 -1 validated NULL 0.005 105 0% 100 26% 1 0% - - - - CSGALNACT1 55790 genome.wustl.edu 37 8 19363211 19363211 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130518.1 -1 validated p.L45 0.996 73 0% 74 31.1% 0 - - - - HMMPfam_CHGN LPL 4023 genome.wustl.edu 37 8 19809312 19809312 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000311322 +1 known p.K94N 0.982 340 0% 290 27.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases LGI3 203190 genome.wustl.edu 37 8 22006416 22006416 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139278.2 -1 validated p.G302S 0.997 42 0% 32 40.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EPTP BMP1 649 genome.wustl.edu 37 8 22035197 22035197 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000354870 +1 known p.R283I 0.019 203 0% 125 32% 0 - unknown(0) tolerated(0.07) - NULL POLR3D 661 genome.wustl.edu 37 8 22106820 22106820 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001722.2 +1 reviewed p.R307 1.000 104 0% 71 29.6% 30 23.3% - - - HMMPfam_RNA_pol_Rpc4 PIWIL2 55124 genome.wustl.edu 37 8 22173829 22173829 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135721.1 +1 validated p.F760 0.643 182 0% 161 31.1% 0 - - - - HMMPfam_Piwi,superfamily_Ribonuclease H-like PIWIL2 55124 genome.wustl.edu 37 8 22210570 22210570 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135721.1 +1 validated p.Q834H 1.000 174 0% 177 29.9% 0 - probably_damaging(0.976) tolerated(0.15) deleterious(0.659) HMMPfam_Piwi,superfamily_Ribonuclease H-like PPP3CC 5533 genome.wustl.edu 37 8 22368601 22368601 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005605.3 +1 provisional p.R163* 1.000 153 0% 127 30.7% 12 0% - - - HMMPfam_Metallophos,HMMSmart_PP2Ac,superfamily_SSF56300 TNFRSF10D 8793 genome.wustl.edu 37 8 23002099 23002099 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003840.3 -1 reviewed p.D273G 0.028 92 0% 77 15.6% 11 18.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL LOXL2 4017 genome.wustl.edu 37 8 23174534 23174534 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002318.2 -1 reviewed p.R522C 1.000 79 0% 84 40.5% 56 1.7% possibly_damaging(0.835) tolerated(0.18) neutral(0.374) HMMPfam_SRCR,HMMSmart_SR,superfamily_Srcr_receptor LOXL2 4017 genome.wustl.edu 37 8 23217622 23217622 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002318.2 -1 reviewed p.S171L 0.914 64 0% 44 31.8% 43 4.6% benign(0.009) deleterious(0.02) neutral(0.384) NULL ADAM7 8756 genome.wustl.edu 37 8 24298649 24298649 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000380789 +1 known p.I10V 0.139 790 0% 541 30.7% 0 - benign(0.156) tolerated(0.54) neutral(0.021) HMMPfam_Pep_M12B_propep ADAM7 8756 genome.wustl.edu 37 8 24350076 24350076 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000380789 +1 known p.N541H 0.401 120 0% 89 34.8% 0 - possibly_damaging(0.847) deleterious(0.02) deleterious(0.708) HMMPfam_ADAM_CR,HMMSmart_SM00608 NEFM 4741 genome.wustl.edu 37 8 24771500 24771500 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005382.2 +1 reviewed p.S65L 0.990 13 0% 13 53.8% 0 - possibly_damaging(0.915) tolerated(0.12) deleterious(0.627) HMMPfam_Filament_head DOCK5 80005 genome.wustl.edu 37 8 25265505 25265505 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024940.6 +1 validated p.I1700 0.382 39 0% 31 29% 1 0% - - - NULL CDCA2 157313 genome.wustl.edu 37 8 25346139 25346139 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152562.2 +1 validated p.K535N 0.984 159 0% 189 24.9% 8 87.5% probably_damaging(0.991) deleterious(0.05) deleterious(0.789) NULL CDCA2 157313 genome.wustl.edu 37 8 25364438 25364438 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152562.2 +1 validated p.F752L 0.001 152 0% 144 29.9% 7 57.1% benign(0) tolerated(0.13) neutral(0.253) NULL PNMA2 10687 genome.wustl.edu 37 8 26365708 26365708 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007257.5 -1 validated p.A188 0.994 106 0% 123 36.6% 0 - - - - NULL DPYSL2 1808 genome.wustl.edu 37 8 26481792 26481792 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001386.4 +1 validated p.Q149H 1.000 198 0% 208 28.8% 17 35.2% benign(0.261) tolerated(0.37) neutral(0.046) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases ADRA1A 148 genome.wustl.edu 37 8 26721722 26721722 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033303.3 -1 reviewed p.T255 0.987 28 0% 21 38.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ADRA1A 148 genome.wustl.edu 37 8 26722090 26722090 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033303.3 -1 reviewed p.R133C 1.000 47 0% 27 33.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_SSF81321 PTK2B 2185 genome.wustl.edu 37 8 27297824 27297824 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004103.3 +1 reviewed p.I635 1.000 63 0% 66 33.3% 5 20% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ESCO2 157570 genome.wustl.edu 37 8 27637713 27637713 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017420.2 +1 reviewed p.S295Y 1.000 180 0% 142 30.3% 6 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL C8orf80 389643 genome.wustl.edu 37 8 27925241 27925241 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010906.1 -1 provisional p.K167N 1.000 31 0% 37 29.7% 0 - probably_damaging(0.957) tolerated(0.12) deleterious(0.661) superfamily_P-loop containing nucleoside triphosphate hydrolases C8orf80 389643 genome.wustl.edu 37 8 27927154 27927154 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010906.1 -1 provisional p.S55* 0.986 135 0% 114 31.6% 0 - - - - NULL ELP3 55140 genome.wustl.edu 37 8 27954825 27954825 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018091.5 +1 validated p.D37N 1.000 151 0% 176 32.4% 8 0% benign(0) tolerated(1) - NULL ELP3 55140 genome.wustl.edu 37 8 27970632 27970632 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018091.5 +1 validated p.R187* 1.000 124 0% 114 23.7% 11 0% - - - HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes EXTL3 2137 genome.wustl.edu 37 8 28575109 28575109 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001440.2 +1 provisional p.Q511H 0.988 131 0% 118 21.2% 12 58.3% benign(0.143) deleterious(0) neutral(0.457) NULL HMBOX1 79618 genome.wustl.edu 37 8 28876391 28876391 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135726.1 +1 validated p.R271Q 1.000 138 0% 128 32% 2 0% benign(0.233) deleterious(0.01) neutral(0.429) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like KIF13B 23303 genome.wustl.edu 37 8 28976451 28976451 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015254.3 -1 validated p.A1198 0.068 272 0% 252 31% 7 57.1% - - - NULL RBPMS 11030 genome.wustl.edu 37 8 30407095 30407095 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000287771 +1 known p.P203S 0.001 121 0% 104 36.5% 4 0% unknown(0) - - NULL GSR 2936 genome.wustl.edu 37 8 30553990 30553990 + Silent SNP G G A rs140455984 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000637.2 -1 validated p.S234 0.976 194 0% 169 35.5% 36 22.2% benign(0.356) tolerated(0.09) neutral(0.409) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain TEX15 56154 genome.wustl.edu 37 8 30699680 30699680 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031271.3 -1 validated p.N2285S 0.000 141 0% 114 29.8% 0 - benign(0) tolerated(0.91) - NULL TEX15 56154 genome.wustl.edu 37 8 30699775 30699775 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031271.3 -1 validated p.F2253L 0.001 204 0% 159 27% 0 - benign(0) tolerated(0.83) neutral(0.001) NULL TEX15 56154 genome.wustl.edu 37 8 30700596 30700596 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031271.3 -1 validated p.L1980 0.017 153 0% 142 28.9% 0 - - - - NULL TEX15 56154 genome.wustl.edu 37 8 30702443 30702443 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031271.3 -1 validated p.S1364Y 0.055 177 0% 161 29.2% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL TEX15 56154 genome.wustl.edu 37 8 30704243 30704243 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031271.3 -1 validated p.L764R 0.000 184 0% 192 33.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TEX15 56154 genome.wustl.edu 37 8 30706455 30706455 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031271.3 -1 validated p.L27I 0.001 186 0% 145 12.4% 0 - benign(0.039) tolerated(0.86) neutral(0.003) NULL WRN 7486 genome.wustl.edu 37 8 30916055 30916055 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000553.4 +1 reviewed p.R31I 0.091 56 0% 50 28% 2 0% benign(0.128) deleterious(0) neutral(0.455) NULL NRG1 3084 genome.wustl.edu 37 8 32453487 32453487 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013956.3 +1 reviewed p.N81S 1.000 236 0% 191 35.1% 0 - possibly_damaging(0.866) tolerated(0.13) deleterious(0.588) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 NRG1 3084 genome.wustl.edu 37 8 32620851 32620851 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013960.3 +1 reviewed p.L462I 1.000 293 0% 249 28.1% 0 - benign(0.313) deleterious(0) deleterious(0.542) HMMPfam_Neuregulin NRG1 3084 genome.wustl.edu 37 8 32621643 32621643 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013956.3 +1 reviewed p.R554I 1.000 132 0% 108 29.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neuregulin FUT10 84750 genome.wustl.edu 37 8 33246820 33246820 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032664.3 -1 validated p.E291D 1.000 153 0% 151 29.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_10 FUT10 84750 genome.wustl.edu 37 8 33246942 33246942 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032664.3 -1 validated p.D251Y 1.000 240 0% 276 30.8% 3 0% possibly_damaging(0.682) deleterious(0.01) deleterious(0.649) HMMPfam_Glyco_transf_10 DUSP26 78986 genome.wustl.edu 37 8 33455008 33455008 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024025.1 -1 provisional p.A9V 0.987 54 0% 96 37.5% 0 - possibly_damaging(0.643) deleterious(0) deleterious(0.670) NULL UNC5D 137970 genome.wustl.edu 37 8 35406937 35406937 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080872.2 +1 validated p.A77 0.005 78 0% 63 36.5% 0 - - - - superfamily_Immunoglobulin UNC5D 137970 genome.wustl.edu 37 8 35631904 35631904 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080872.2 +1 validated p.S856P 1.000 134 0% 116 33.6% 0 - probably_damaging(1) tolerated(0.32) deleterious(0.524) HMMSmart_SM00005,superfamily_DEATH domain KCNU1 157855 genome.wustl.edu 37 8 36766859 36766859 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031836.2 +1 validated p.R713W 0.919 484 0.2% 494 28.3% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL RAB11FIP1 80223 genome.wustl.edu 37 8 37728899 37728899 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002814.2 -1 validated p.N1141H 0.488 161 0% 146 37% 2 50% possibly_damaging(0.817) deleterious(0) deleterious(0.754) NULL ASH2L 9070 genome.wustl.edu 37 8 37967931 37967931 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004674.3 +1 validated p.H146N 1.000 134 0% 198 29.3% 13 38.4% - - - NULL BAG4 9530 genome.wustl.edu 37 8 38067826 38067826 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004874.2 +1 reviewed p.V397I 1.000 145 0% 151 37.1% 9 11.1% possibly_damaging(0.94) deleterious(0.03) deleterious(0.750) HMMPfam_BAG,HMMSmart_BAG,superfamily_SSF63491 DDHD2 23259 genome.wustl.edu 37 8 38109481 38109481 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015214.2 +1 validated p.E466* 0.002 154 0% 182 39% 2 0% - - - NULL DDHD2 23259 genome.wustl.edu 37 8 38117628 38117628 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015214.2 +1 validated p.P709S 1.000 220 0% 201 28.4% 8 12.5% probably_damaging(0.986) tolerated(0.1) deleterious(0.721) NULL WHSC1L1 54904 genome.wustl.edu 37 8 38178677 38178677 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023034.1 -1 reviewed p.K574N 1.000 160 0% 159 29.6% 10 30% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL WHSC1L1 54904 genome.wustl.edu 37 8 38187182 38187182 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023034.1 -1 reviewed p.Q432P 1.000 122 0% 106 27.4% 14 57.1% benign(0) tolerated(0.09) neutral(0.296) NULL WHSC1L1 54904 genome.wustl.edu 37 8 38196054 38196054 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023034.1 -1 reviewed p.P249 0.934 156 0% 127 26% 6 83.3% - - - NULL FGFR1 2260 genome.wustl.edu 37 8 38272322 38272322 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023110.2 -1 reviewed p.I651T 1.000 206 0% 194 35.6% 73 36.9% possibly_damaging(0.882) tolerated(0.14) deleterious(0.594) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ADAM9 8754 genome.wustl.edu 37 8 38880697 38880697 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003816.2 +1 reviewed p.R256Q 1.000 201 0% 183 33.3% 19 42.1% possibly_damaging(0.551) deleterious(0.04) deleterious(0.536) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM9 8754 genome.wustl.edu 37 8 38934863 38934863 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003816.2 +1 reviewed p.F605S 1.000 174 0% 141 28.4% 51 49% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ADAM_CR,HMMSmart_SM00608 ADAM18 8749 genome.wustl.edu 37 8 39466611 39466611 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014237.1 +1 reviewed p.S80Y 0.000 81 0% 49 10.2% 0 - possibly_damaging(0.731) deleterious(0.03) deleterious(0.631) HMMPfam_Pep_M12B_propep IDO1 3620 genome.wustl.edu 37 8 39782841 39782841 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002164.4 +1 validated p.V269 0.158 31 0% 31 22.6% 11 36.3% - - - HMMPfam_IDO,PatternScan_IDO_1 SFRP1 6422 genome.wustl.edu 37 8 41122963 41122963 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003012.4 -1 reviewed p.K223T 1.000 97 0% 95 30.5% 1 0% probably_damaging(0.963) tolerated(0.63) neutral(0.409) superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C ANK1 286 genome.wustl.edu 37 8 41522530 41522530 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142445.1 -1 reviewed p.F4 0.584 101 0% 114 28.9% 0 - - - - NULL ANK1 286 genome.wustl.edu 37 8 41584808 41584808 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142446.1 -1 reviewed p.F162C 1.000 78 0% 59 42.4% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK KAT6A 7994 genome.wustl.edu 37 8 41790208 41790208 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099412.1 -1 validated p.R1844 1.000 103 0% 91 29.7% 9 33.3% - - - NULL KAT6A 7994 genome.wustl.edu 37 8 41794856 41794856 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099412.1 -1 validated p.S1090 0.996 248 0% 183 24% 4 0% - - - NULL KAT6A 7994 genome.wustl.edu 37 8 41798556 41798556 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099412.1 -1 validated p.R948Q 1.000 332 0% 314 29% 5 100% unknown(0) deleterious(0.03) - NULL KAT6A 7994 genome.wustl.edu 37 8 41834795 41834795 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099412.1 -1 validated p.K365T 1.000 166 0% 148 25.7% 6 50% unknown(0) deleterious(0.01) - NULL KAT6A 7994 genome.wustl.edu 37 8 41838395 41838395 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099412.1 -1 validated p.C292 1.000 420 0% 327 26% 4 0% - - - HMMSmart_RING,HMMSmart_PHD,superfamily_FYVE_PHD_ZnF,PatternScan_ZF_PHD_1,HMMPfam_PHD IKBKB 3551 genome.wustl.edu 37 8 42171889 42171889 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001556.1 +1 validated p.D248Y 1.000 139 0% 146 35.6% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_Kinase_like DKK4 27121 genome.wustl.edu 37 8 42231804 42231804 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014420.2 -1 reviewed p.T163 0.829 235 0% 239 72% 0 - - - - NULL DKK4 27121 genome.wustl.edu 37 8 42233288 42233288 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014420.2 -1 reviewed p.D58N 0.021 68 0% 65 33.8% 0 - benign(0.002) tolerated(0.2) neutral(0.049) HMMPfam_Dickkopf_N SLC20A2 6575 genome.wustl.edu 37 8 42329698 42329698 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006749.3 -1 provisional p.R71C 1.000 475 0% 467 31% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PHO4 C8orf40 114926 genome.wustl.edu 37 8 42401727 42401727 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135674.1 +1 validated p.G38S 0.703 77 0% 81 38.3% 49 53% benign(0.094) tolerated(0.34) neutral(0.030) NULL THAP1 55145 genome.wustl.edu 37 8 42693313 42693313 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018105.2 -1 reviewed p.Q145R 1.000 77 0% 70 24.3% 7 42.8% probably_damaging(0.995) tolerated(0.25) deleterious(0.494) NULL FNTA 2339 genome.wustl.edu 37 8 42940342 42940342 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002027.2 +1 reviewed p.K353Q 1.000 123 0% 84 36.9% 65 43% benign(0.262) tolerated(0.28) neutral(0.059) superfamily_Protein prenylyltransferase SGK196 84197 genome.wustl.edu 37 8 42977319 42977319 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032237.3 +1 validated p.D118Y 1.000 155 0% 120 24.2% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like HGSNAT 138050 genome.wustl.edu 37 8 43054563 43054563 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152419.2 +1 reviewed p.E587K 0.996 78 0% 37 24.3% 21 23.8% benign(0.027) tolerated(0.63) neutral(0.005) NULL LOC100287980 100287980 genome.wustl.edu 37 8 48001307 48001307 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342844.1 -1 model p.K204N 0.237 46 0% 34 23.5% 0 - - - - NULL LOC100287980 100287980 genome.wustl.edu 37 8 48001409 48001409 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342844.1 -1 model p.K170N 0.026 61 0% 39 33.3% 0 - - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48869951 48869952 + Frame_Shift_Ins INS - - A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000314191 -1 known p.L65fs 1.000:1.000 - - - - - - - - - superfamily_ARM repeat MCM4 4173 genome.wustl.edu 37 8 48883093 48883093 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005914.2 +1 reviewed p.G486D 0.991 179 0% 128 28.1% 45 42.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MCM,HMMSmart_MCM,superfamily_SSF52540 MCM4 4173 genome.wustl.edu 37 8 48888325 48888325 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005914.2 +1 reviewed p.K806E 1.000 66 0% 51 37.3% 76 43.4% unknown(0) tolerated(0.38) - NULL EFCAB1 79645 genome.wustl.edu 37 8 49642285 49642285 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024593.3 -1 validated p.K155N 1.000 51 0% 59 32.2% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMSmart_EFh,superfamily_SSF47473 SNTG1 54212 genome.wustl.edu 37 8 51314775 51314775 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018967.2 +1 reviewed p.K11N 1.000 201 0% 154 14.9% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL PXDNL 137902 genome.wustl.edu 37 8 52232460 52232460 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144651.4 -1 validated p.E1461D 0.007 63 0% 48 29.2% 0 - benign(0.035) - - NULL PXDNL 137902 genome.wustl.edu 37 8 52370189 52370189 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144651.4 -1 validated p.V284A 1.000 379 0% 279 25.8% 0 - benign(0.058) tolerated(0.06) neutral(0.326) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PXDNL 137902 genome.wustl.edu 37 8 52567294 52567294 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144651.4 -1 validated p.E64A 1.000 90 0% 70 37.1% 0 - possibly_damaging(0.941) deleterious(0.05) deleterious(0.732) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like PCMTD1 115294 genome.wustl.edu 37 8 52733065 52733065 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052937.2 -1 validated p.K307T 1.000 391 0% 279 16.8% 8 50% possibly_damaging(0.736) tolerated(0.35) neutral(0.290) NULL ST18 9705 genome.wustl.edu 37 8 53084693 53084693 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014682.2 -1 validated p.F243C 0.006 101 0% 126 27.8% 0 - possibly_damaging(0.865) deleterious(0.02) deleterious(0.718) NULL ST18 9705 genome.wustl.edu 37 8 53085108 53085108 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014682.2 -1 validated p.L105I 0.017 79 0% 66 37.9% 0 - possibly_damaging(0.528) tolerated(0.11) neutral(0.450) NULL RB1CC1 9821 genome.wustl.edu 37 8 53568594 53568594 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014781.4 -1 reviewed p.K1265 0.927 119 0% 104 32.7% 9 66.6% - - - NULL RB1CC1 9821 genome.wustl.edu 37 8 53570293 53570293 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014781.4 -1 reviewed p.T699M 1.000 172 0% 168 32.1% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP6V1H 51606 genome.wustl.edu 37 8 54684728 54684728 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015941.2 -1 reviewed e9-1 1.000 120 0% 157 29.9% 0 - - - - - TCEA1 6917 genome.wustl.edu 37 8 54891683 54891683 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006756.2 -1 validated p.E243* 1.000 254 0% 201 11.9% 58 0% - - - HMMPfam_TFIIS_M,superfamily_Zinc beta-ribbon MRPL15 29088 genome.wustl.edu 37 8 55060186 55060186 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014175.3 +1 reviewed p.F266L 1.000 144 0% 128 18% 136 42.6% benign(0.1) deleterious(0.04) neutral(0.356) NULL RP1 6101 genome.wustl.edu 37 8 55538119 55538119 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006269.1 +1 reviewed p.E559D 0.637 103 0% 61 32.8% 0 - possibly_damaging(0.888) tolerated(0.32) neutral(0.371) NULL RP1 6101 genome.wustl.edu 37 8 55538698 55538698 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006269.1 +1 reviewed p.T752 0.000 88 0% 59 30.5% 0 - - - - NULL RP1 6101 genome.wustl.edu 37 8 55540821 55540821 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006269.1 +1 reviewed p.R1460I 0.998 167 0% 124 31.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RP1 6101 genome.wustl.edu 37 8 55541828 55541828 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006269.1 +1 reviewed p.T1796P 0.000 108 0% 90 32.2% 0 - benign(0.06) tolerated(0.14) neutral(0.254) NULL MOS 4342 genome.wustl.edu 37 8 57026260 57026260 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005372.1 -1 validated p.K94N 1.000 99 0% 68 27.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Kinase_like,HMMPfam_Pkinase SDR16C5 195814 genome.wustl.edu 37 8 57224747 57224747 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138969.2 -1 validated p.S145* 0.992 171 0.6% 131 31.3% 0 - - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains PENK 5179 genome.wustl.edu 37 8 57353902 57353902 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135690.1 -1 validated p.E245K 1.000 177 0% 158 24.1% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL IMPAD1 54928 genome.wustl.edu 37 8 57878853 57878853 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017813.3 -1 validated p.K235N 1.000 156 0% 135 31.9% 49 40.8% benign(0.016) tolerated(0.36) neutral(0.021) HMMPfam_Inositol_P,superfamily_SSF56655 FAM110B 90362 genome.wustl.edu 37 8 59059266 59059266 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_147189.2 +1 validated p.F159 1.000 38 0% 22 36.4% 2 0% - - - NULL UBXN2B 137886 genome.wustl.edu 37 8 59358525 59358525 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077619.1 +1 validated p.L244R 0.792 122 0% 96 20.8% 2 50% possibly_damaging(0.808) tolerated(0.82) neutral(0.304) superfamily_SSF54236 NSMAF 8439 genome.wustl.edu 37 8 59511876 59511876 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144772.1 -1 reviewed p.N531K 0.002 254 0% 221 23.5% 9 33.3% benign(0) tolerated(0.27) neutral(0.034) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like TOX 9760 genome.wustl.edu 37 8 59728228 59728228 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014729.2 -1 reviewed p.S354L 0.998 59 0% 63 69.8% 2 0% benign(0.076) tolerated(0.1) neutral(0.292) NULL CA8 767 genome.wustl.edu 37 8 61178561 61178561 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004056.4 -1 reviewed p.E114K 1.000 86 0% 106 31.1% 0 - possibly_damaging(0.918) deleterious(0) deleterious(0.813) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase RAB2A 5862 genome.wustl.edu 37 8 61496785 61496785 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002865.1 +1 provisional p.R69C 1.000 246 0% 214 33.6% 134 40.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CHD7 55636 genome.wustl.edu 37 8 61654249 61654249 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017780.2 +1 reviewed p.P86 0.665 78 0% 42 19% 2 100% - - - NULL CHD7 55636 genome.wustl.edu 37 8 61654926 61654926 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017780.2 +1 reviewed p.R312Q 1.000 289 0% 240 30.8% 1 0% possibly_damaging(0.516) tolerated(0.1) neutral(0.460) NULL CHD7 55636 genome.wustl.edu 37 8 61769212 61769212 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017780.2 +1 reviewed p.F2458C 1.000 201 0% 187 34.8% 3 33.3% possibly_damaging(0.913) deleterious(0.01) deleterious(0.770) NULL CHD7 55636 genome.wustl.edu 37 8 61769220 61769220 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017780.2 +1 reviewed p.L2461F 1.000 200 0% 196 30.1% 3 66.6% benign(0.323) tolerated(0.15) neutral(0.342) NULL ASPH 444 genome.wustl.edu 37 8 62475316 62475316 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004318.3 -1 reviewed p.K475R 1.000 376 0% 391 27.4% 3 0% benign(0.005) tolerated(0.49) neutral(0.011) superfamily_SSF48452 NKAIN3 286183 genome.wustl.edu 37 8 63502316 63502316 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173688.2 +1 provisional p.I79S 1.000 28 0% 32 18.8% 0 - possibly_damaging(0.918) tolerated(0.05) deleterious(0.714) HMMPfam_NKAIN CYP7B1 9420 genome.wustl.edu 37 8 65517309 65517309 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004820.3 -1 reviewed p.R388Q 1.000 146 0% 117 21.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 CYP7B1 9420 genome.wustl.edu 37 8 65537068 65537068 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004820.3 -1 reviewed p.G51C 1.000 486 0% 406 22.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cytochrome P450 DNAJC5B 85479 genome.wustl.edu 37 8 67012238 67012238 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033105.4 +1 validated p.G191E 0.297 115 0% 76 22.4% 2 0% benign(0.002) tolerated(0.09) neutral(0.296) NULL C8orf46 254778 genome.wustl.edu 37 8 67405914 67405914 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152765.3 +1 validated p.E11K 1.000 61 1.6% 69 24.6% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL MYBL1 4603 genome.wustl.edu 37 8 67509728 67509728 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080416.2 -1 validated p.L117V 1.000 139 0% 103 34% 1 100% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding PPP1R42 286187 genome.wustl.edu 37 8 67925200 67925200 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013626.2 -1 provisional p.S143Y 1.000 128 0% 143 28.7% 0 - possibly_damaging(0.885) deleterious(0.04) deleterious(0.695) superfamily_SSF52058 COPS5 10987 genome.wustl.edu 37 8 67974198 67974198 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006837.2 -1 reviewed p.T12A 1.000 105 0% 93 31.2% 68 64.7% benign(0.023) deleterious(0.01) neutral(0.407) NULL ARFGEF1 10565 genome.wustl.edu 37 8 68131779 68131779 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006421.3 -1 reviewed p.F1409L 1.000 159 0% 105 35.2% 12 25% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68139473 68139473 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006421.3 -1 reviewed p.R1272Q 1.000 235 0% 163 31.9% 10 40% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_DUF1981,superfamily_ARM-type_fold ARFGEF1 10565 genome.wustl.edu 37 8 68140232 68140232 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006421.3 -1 reviewed p.R1186Q 1.000 164 0% 127 35.4% 6 83.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_ARM-type_fold PREX2 80243 genome.wustl.edu 37 8 69031716 69031716 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024870.2 +1 validated p.K1157N 1.000 231 0% 214 33.6% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SULF1 23213 genome.wustl.edu 37 8 70488407 70488407 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128204.1 +1 validated p.T125 0.016 103 0% 80 26.3% 32 0% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core SULF1 23213 genome.wustl.edu 37 8 70498676 70498676 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128204.1 +1 validated p.S166Y 1.000 357 0% 246 29.7% 23 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core SLCO5A1 81796 genome.wustl.edu 37 8 70585331 70585331 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030958.2 -1 reviewed p.E774* 0.988 166 0% 112 35.7% 0 - - - - NULL PRDM14 63978 genome.wustl.edu 37 8 70978615 70978615 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024504.2 -1 validated p.G346 0.956 119 0% 121 38.8% 0 - - - - HMMSmart_SET,superfamily_SSF82199 PRDM14 63978 genome.wustl.edu 37 8 70980758 70980758 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024504.2 -1 validated p.S237Y 0.519 58 0% 45 48.9% 0 - possibly_damaging(0.716) tolerated(0.21) neutral(0.303) NULL NCOA2 10499 genome.wustl.edu 37 8 71044086 71044086 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006540.2 -1 validated p.E1104K 0.985 38 0% 37 27% 0 - possibly_damaging(0.937) tolerated(0.38) neutral(0.401) superfamily_Nuc_recept_coact,HMMPfam_Nuc_rec_co-act NCOA2 10499 genome.wustl.edu 37 8 71071856 71071856 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006540.2 -1 validated p.I336 1.000 173 0% 113 31.9% 1 0% - - - HMMSmart_PAC,superfamily_SSF55785 LACTB2 51110 genome.wustl.edu 37 8 71556344 71556344 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016027.2 -1 validated p.S183Y 1.000 434 0% 403 29.3% 6 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Lactamase_B,superfamily_SSF56281 EYA1 2138 genome.wustl.edu 37 8 72211938 72211938 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000503.4 -1 reviewed p.S192P 1.000 233 0% 152 28.9% 0 - benign(0.102) tolerated(0.11) neutral(0.280) NULL TRPA1 8989 genome.wustl.edu 37 8 72946605 72946605 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007332.2 -1 reviewed p.N855H 0.998 194 0% 131 26.7% 0 - possibly_damaging(0.687) tolerated(0.1) deleterious(0.532) HMMPfam_Ion_trans LOC392232 392232 genome.wustl.edu 37 8 73144670 73144670 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_037363.2 -1 model NULL 1.000 71 0% 51 25.5% 0 - - - - - KCNB2 9312 genome.wustl.edu 37 8 73848500 73848500 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004770.2 +1 reviewed p.R304* 1.000 127 0% 134 29.9% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 STAU2 27067 genome.wustl.edu 37 8 74526113 74526113 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014393.2 -1 reviewed p.E221* 1.000 120 0% 83 18.1% 4 0% - - - HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like UBE2W 55284 genome.wustl.edu 37 8 74742654 74742654 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001481.1 -1 validated p.M34I 1.000 224 0% 194 30.4% 14 28.5% unknown(0) tolerated(0.06) - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like LOC100287016 100287016 genome.wustl.edu 37 8 74896809 74896809 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342849.1 +1 model p.E28* 1.000 99 0% 79 24.1% 3 0% - - - HMMPfam_Cofilin_ADF,superfamily_Actin depolymerizing proteins LOC100287016 100287016 genome.wustl.edu 37 8 74896822 74896822 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342849.1 +1 model p.R32I 1.000 118 0% 89 29.2% 2 0% - - - HMMPfam_Cofilin_ADF,superfamily_Actin depolymerizing proteins PI15 51050 genome.wustl.edu 37 8 75757429 75757429 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015886.3 +1 reviewed p.Y153 0.996 200 0% 188 28.2% 1 0% - - - HMMSmart_SCP,HMMPfam_SCP,superfamily_SCP-like_extracellular CRISPLD1 83690 genome.wustl.edu 37 8 75937842 75937842 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031461.4 +1 validated p.R436* 1.000 104 0% 57 22.8% 8 0% - - - HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain HNF4G 3174 genome.wustl.edu 37 8 76471119 76471119 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004133.4 +1 validated p.R314W 0.996 181 0% 145 35.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor ZFHX4 79776 genome.wustl.edu 37 8 77618194 77618194 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024721.4 +1 validated p.S624Y 1.000 87 0% 85 30.6% 0 - benign(0.189) - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZFHX4 79776 genome.wustl.edu 37 8 77690553 77690553 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024721.4 +1 validated p.S1042L 0.999 239 0% 217 25.8% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_SM00451,HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX4 79776 genome.wustl.edu 37 8 77767571 77767571 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024721.4 +1 validated p.S2760L 0.998 92 0% 118 22% 0 - probably_damaging(0.974) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77768353 77768353 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024721.4 +1 validated p.R3021C 1.000 197 0% 171 32.2% 0 - probably_damaging(1) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77775512 77775512 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024721.4 +1 validated p.E3143* 1.000 130 0% 178 25.8% 0 - - - - NULL PAG1 55824 genome.wustl.edu 37 8 81888912 81888912 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018440.3 -1 reviewed p.A389V 0.997 143 0% 136 31.6% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL PAG1 55824 genome.wustl.edu 37 8 81897466 81897466 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018440.3 -1 reviewed p.A141T 0.000 89 0% 92 25% 0 - benign(0) tolerated(0.46) neutral(0.012) NULL IMPA1 3612 genome.wustl.edu 37 8 82583273 82583273 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144878.1 -1 reviewed p.K215T 0.997 156 0% 105 25.7% 7 28.5% benign(0.016) tolerated(0.06) neutral(0.323) HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase SLC10A5 347051 genome.wustl.edu 37 8 82606085 82606085 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010893.2 -1 validated p.L375V 0.630 188 0% 162 31.5% 1 0% possibly_damaging(0.895) tolerated(0.07) deleterious(0.672) NULL SNX16 64089 genome.wustl.edu 37 8 82727616 82727616 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022133.3 -1 reviewed p.E209* 1.000 113 0% 74 36.5% 3 0% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain RALYL 138046 genome.wustl.edu 37 8 85785562 85785562 + Missense_Mutation SNP G G T rs35443527 byCluster;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100391.1 +1 validated p.Q218H 1.000 37 0% 30 20% 0 - benign(0.009) deleterious(0) neutral(0.445) NULL LRRCC1 85444 genome.wustl.edu 37 8 86050680 86050680 + Missense_Mutation SNP C C T rs184616940 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033402.4 +1 validated p.A937V 0.999 115 0% 95 23.2% 2 50% benign(0.108) tolerated(0.06) neutral(0.331) NULL E2F5 1875 genome.wustl.edu 37 8 86121608 86121608 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001951.3 +1 reviewed p.A283T 0.000 89 0% 60 33.3% 22 63.6% benign(0.032) tolerated(0.66) neutral(0.004) NULL CA1 759 genome.wustl.edu 37 8 86250587 86250587 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128829.2 -1 reviewed p.T43 0.073 341 0% 272 30.9% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd PSKH2 85481 genome.wustl.edu 37 8 87076215 87076215 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033126.1 -1 provisional p.G277 1.000 91 0% 122 31.1% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PSKH2 85481 genome.wustl.edu 37 8 87076588 87076588 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033126.1 -1 provisional p.G153E 1.000 153 0% 181 38.1% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ATP6V0D2 245972 genome.wustl.edu 37 8 87151851 87151851 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152565.1 +1 validated p.I156 0.799 146 0% 142 31.7% 0 - - - - HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d ATP6V0D2 245972 genome.wustl.edu 37 8 87165153 87165153 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152565.1 +1 validated p.C334R 1.000 158 0% 194 37.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d SLC7A13 157724 genome.wustl.edu 37 8 87226642 87226642 + Nonstop_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138817.2 -1 validated p.*471Y 0.000 148 0% 71 29.6% 0 - - - - NULL WWP1 11059 genome.wustl.edu 37 8 87410585 87410585 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007013.3 +1 validated p.E117* 1.000 186 0% 160 22.5% 2 0% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) WWP1 11059 genome.wustl.edu 37 8 87473500 87473500 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007013.3 +1 validated p.F849 1.000 168 0% 142 27.5% 13 76.9% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain CPNE3 8895 genome.wustl.edu 37 8 87568431 87568431 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003909.3 +1 reviewed p.I452 1.000 123 0% 129 25.6% 28 57.1% - - - HMMSmart_VWA,HMMPfam_Copine,superfamily_SSF53300 CNBD1 168975 genome.wustl.edu 37 8 88218303 88218303 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173538.2 +1 provisional p.D172Y 0.000 92 0% 55 32.7% 0 - probably_damaging(0.981) tolerated(0.14) deleterious(0.675) superfamily_cNMP_binding CNBD1 168975 genome.wustl.edu 37 8 88365915 88365915 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173538.2 +1 provisional p.F402V 1.000 114 0% 78 30.8% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) HMMPfam_cNMP_binding,superfamily_cNMP_binding OSGIN2 734 genome.wustl.edu 37 8 90926893 90926893 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001126111.1 +1 validated p.S149 0.913 363 0% 334 29.6% 14 57.1% - - - NULL OSGIN2 734 genome.wustl.edu 37 8 90936995 90936995 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001126111.1 +1 validated p.F295 0.997 243 0% 204 32.4% 16 75% - - - superfamily_FAD/NAD(P)-binding domain TMEM64 169200 genome.wustl.edu 37 8 91643826 91643826 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008495.3 -1 validated p.V302A 1.000 359 0.3% 300 25% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC26A7 115111 genome.wustl.edu 37 8 92378849 92378849 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_134266.1 +1 reviewed p.P510 0.997 251 0% 200 28.5% 1 0% - - - HMMPfam_STAS,superfamily_STAS RUNX1T1 862 genome.wustl.edu 37 8 92999128 92999128 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175634.1 -1 reviewed p.K355T 1.000 259 0% 205 22% 0 - probably_damaging(0.965) deleterious(0.05) deleterious(0.752) HMMPfam_NHR2 RBM12B 389677 genome.wustl.edu 37 8 94746312 94746312 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203390.2 -1 validated p.P776L 0.042 83 0% 74 24.3% 4 50% benign(0.005) deleterious(0.03) neutral(0.364) NULL RBM12B 389677 genome.wustl.edu 37 8 94747803 94747803 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203390.2 -1 validated p.R279H 1.000 185 0% 169 28.4% 2 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_RNA-binding domain RBD PDP1 54704 genome.wustl.edu 37 8 94935367 94935367 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018444.3 +1 reviewed p.W360* 1.000 128 0% 153 25.5% 6 50% - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C CDH17 1015 genome.wustl.edu 37 8 95143137 95143137 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144663.1 -1 reviewed p.R751W 0.000 226 0% 218 32.1% 1 0% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Cadherin,superfamily_Cadherin-like CDH17 1015 genome.wustl.edu 37 8 95182731 95182731 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144663.1 -1 reviewed p.L320 0.019 279 0.4% 221 30.8% 3 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like RAD54B 25788 genome.wustl.edu 37 8 95399358 95399358 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012415.2 -1 reviewed p.K613N 0.665 165 0% 157 28.7% 2 0% benign(0.03) tolerated(0.41) neutral(0.017) NULL DPY19L4 286148 genome.wustl.edu 37 8 95780628 95780628 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181787.2 +1 validated p.F394S 1.000 133 0% 101 26.7% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2211 C8orf38 137682 genome.wustl.edu 37 8 96070133 96070133 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152416.2 +1 reviewed p.L324V 0.558 55 0% 68 30.9% 4 25% benign(0.082) deleterious(0.01) neutral(0.412) HMMPfam_SQS_PSY UQCRB 7381 genome.wustl.edu 37 8 97243289 97243289 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006294.3 -1 reviewed p.K110N 1.000 275 0% 235 28.5% 392 27.2% unknown(0) deleterious(0) - superfamily_14 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) MTERFD1 51001 genome.wustl.edu 37 8 97251839 97251839 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015942.3 -1 provisional p.D378 0.944 41 0% 38 21.1% 9 33.3% - - - HMMPfam_mTERF MTERFD1 51001 genome.wustl.edu 37 8 97256207 97256207 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015942.3 -1 provisional p.T333 0.011 95 0% 90 36.7% 17 47% - - - HMMPfam_mTERF,HMMSmart_SM00733 PTDSS1 9791 genome.wustl.edu 37 8 97274424 97274424 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014754.1 +1 provisional p.S52 1.000 54 0% 78 23.1% 45 0% - - - NULL CPQ 10404 genome.wustl.edu 37 8 97892115 97892115 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016134.2 +1 provisional p.R244K 1.000 366 0% 288 29.9% 16 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_SSF53187 MATN2 4147 genome.wustl.edu 37 8 99045827 99045827 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002380.3 +1 reviewed p.E919K 1.000 31 0% 20 45% 29 37.9% benign(0.35) tolerated(0.14) neutral(0.360) HMMPfam_Matrilin_ccoil NIPAL2 79815 genome.wustl.edu 37 8 99266260 99266260 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024759.1 -1 provisional p.S64F 1.000 91 0% 62 30.6% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF803,superfamily_SSF103481 OSR2 116039 genome.wustl.edu 37 8 99961736 99961736 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142462.1 +1 validated p.N186D 1.000 202 0% 142 23.9% 13 38.4% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers VPS13B 157680 genome.wustl.edu 37 8 100133620 100133620 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017890.3 +1 reviewed p.D385N 1.000 201 0% 260 29.6% 0 - benign(0.249) tolerated(0.27) neutral(0.059) NULL VPS13B 157680 genome.wustl.edu 37 8 100147344 100147344 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017890.3 +1 reviewed p.E468D 0.993 168 0% 124 27.4% 1 100% benign(0.01) tolerated(0.63) neutral(0.004) NULL VPS13B 157680 genome.wustl.edu 37 8 100147851 100147851 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017890.3 +1 reviewed p.N485D 1.000 131 0% 103 37.9% 0 - benign(0.008) tolerated(0.71) neutral(0.002) NULL VPS13B 157680 genome.wustl.edu 37 8 100286459 100286459 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017890.3 +1 reviewed p.E850A 1.000 270 0% 214 37.4% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL VPS13B 157680 genome.wustl.edu 37 8 100654663 100654663 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017890.3 +1 reviewed p.R1974* 1.000 120 0% 126 27% 0 - - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100711888 100711888 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017890.3 +1 reviewed p.S2086F 0.029 282 0% 233 33.5% 0 - benign(0.052) tolerated(0.13) neutral(0.256) NULL VPS13B 157680 genome.wustl.edu 37 8 100830024 100830024 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017890.3 +1 reviewed p.V2810A 1.000 159 0% 164 39% 3 100% possibly_damaging(0.44) deleterious(0.04) deleterious(0.492) NULL VPS13B 157680 genome.wustl.edu 37 8 100830686 100830686 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017890.3 +1 reviewed p.S2815F 1.000 177 0% 173 26.6% 4 75% benign(0.373) deleterious(0.04) neutral(0.468) NULL FBXO43 286151 genome.wustl.edu 37 8 101146049 101146049 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029860.2 -1 validated p.R703Q 1.000 168 0% 125 32% 0 - possibly_damaging(0.856) deleterious(0.04) deleterious(0.679) NULL FBXO43 286151 genome.wustl.edu 37 8 101146202 101146202 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029860.2 -1 validated p.Y652S 0.968 173 0% 143 27.3% 1 0% benign(0.013) tolerated(0.27) neutral(0.034) HMMPfam_IBR,HMMSmart_IBR,superfamily_SSF57850 FBXO43 286151 genome.wustl.edu 37 8 101153360 101153360 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029860.2 -1 validated p.K374N 0.003 177 0% 161 28.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SPAG1 6674 genome.wustl.edu 37 8 101174635 101174635 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003114.3 +1 reviewed p.L43I 0.977 54 0% 38 31.6% 0 - benign(0.191) tolerated(0.44) neutral(0.030) NULL RNF19A 25897 genome.wustl.edu 37 8 101287222 101287222 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015435.3 -1 reviewed p.R281H 1.000 90 0% 79 32.9% 9 44.4% benign(0.156) tolerated(0.14) neutral(0.264) NULL SNX31 169166 genome.wustl.edu 37 8 101642561 101642561 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152628.3 -1 validated p.A105 0.008 76 0% 95 31.6% 0 - - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain AZIN1 51582 genome.wustl.edu 37 8 103851101 103851101 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015878.4 -1 reviewed p.N107S 1.000 95 0% 98 33.7% 68 39.7% possibly_damaging(0.637) deleterious(0.04) deleterious(0.572) HMMPfam_Orn_Arg_deC_N,superfamily_SSF51419 ATP6V1C1 528 genome.wustl.edu 37 8 104076985 104076985 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001695.4 +1 reviewed p.F291C 1.000 92 0% 69 31.9% 27 37% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V-ATPase_C BAALC 79870 genome.wustl.edu 37 8 104240250 104240250 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024812.2 +1 reviewed p.E121* 1.000 105 0% 94 22.3% 2 0% - - - NULL FZD6 8323 genome.wustl.edu 37 8 104337581 104337581 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003506.3 +1 reviewed p.R416Q 1.000 373 0.5% 333 36% 28 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Frizzled DCAF13 25879 genome.wustl.edu 37 8 104432548 104432548 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015420.6 +1 validated p.R195 0.988 62 0% 62 33.9% 37 40.5% - - - superfamily_WD40_like DCAF13 25879 genome.wustl.edu 37 8 104438371 104438371 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015420.6 +1 validated p.K308Q 1.000 71 0% 57 22.8% 56 48.2% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) superfamily_WD40_like RIMS2 9699 genome.wustl.edu 37 8 104897638 104897638 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100117.1 +1 validated p.S271P 1.000 137 0% 162 34% 3 66.6% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL RIMS2 9699 genome.wustl.edu 37 8 104922424 104922424 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100117.1 +1 validated p.S563P 1.000 161 0.6% 115 35.7% 0 - possibly_damaging(0.561) tolerated(0.29) neutral(0.221) superfamily_PDZ domain-like RIMS2 9699 genome.wustl.edu 37 8 104924317 104924317 + Missense_Mutation SNP C C T rs141316868 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100117.1 +1 validated p.R577C 1.000 122 0% 105 30.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PDZ domain-like ZFPM2 23414 genome.wustl.edu 37 8 106815540 106815540 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012082.3 +1 reviewed p.S1077L 0.996 82 0% 67 43.3% 1 0% possibly_damaging(0.602) tolerated(0.17) neutral(0.267) NULL OXR1 55074 genome.wustl.edu 37 8 107695484 107695484 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018002.2 +1 validated p.E121K 1.000 135 0% 108 34.3% 6 66.6% probably_damaging(0.974) tolerated(0.1) deleterious(0.702) HMMSmart_SM00257,HMMPfam_LysM,superfamily_LysM domain OXR1 55074 genome.wustl.edu 37 8 107751790 107751790 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018002.2 +1 validated p.L687 0.993 89 0% 78 37.2% 7 85.7% - - - HMMSmart_SM00584 RSPO2 340419 genome.wustl.edu 37 8 108913336 108913336 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178565.4 -1 validated p.S233 0.771 163 0% 160 33.1% 0 - - - - NULL EIF3E 3646 genome.wustl.edu 37 8 109215291 109215291 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001568.2 -1 validated p.K407T 1.000 248 0% 211 38.9% 369 0% unknown(0) tolerated(0.09) - HMMSmart_SM00088 EIF3E 3646 genome.wustl.edu 37 8 109240530 109240530 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001568.2 -1 validated p.D230N 1.000 319 0% 234 30.3% 281 0% benign(0.19) tolerated(0.25) neutral(0.055) NULL TTC35 9694 genome.wustl.edu 37 8 109482082 109482082 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014673.3 +1 provisional p.R131* 1.000 150 0% 139 13.7% 21 0% - - - superfamily_Prenyl_trans TRHR 7201 genome.wustl.edu 37 8 110100067 110100067 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003301.4 +1 reviewed p.I109S 1.000 384 0% 349 26.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 PKHD1L1 93035 genome.wustl.edu 37 8 110376821 110376821 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177531.4 +1 validated p.Y40C 1.000 61 0% 49 24.5% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PKHD1L1 93035 genome.wustl.edu 37 8 110424602 110424602 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177531.4 +1 validated p.R732 0.121 114 0% 96 35.4% 0 - - - - NULL PKHD1L1 93035 genome.wustl.edu 37 8 110468548 110468548 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177531.4 +1 validated p.R2311I 0.004 54 0% 33 36.4% 0 - benign(0.004) tolerated(0.08) neutral(0.300) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110491815 110491815 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177531.4 +1 validated p.R3042Q 0.004 28 0% 26 26.9% 0 - benign(0.003) tolerated(0.58) neutral(0.005) HMMPfam_G8 PKHD1L1 93035 genome.wustl.edu 37 8 110523128 110523128 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177531.4 +1 validated p.L3840I 1.000 404 0% 436 11.9% 1 0% possibly_damaging(0.858) tolerated(0.17) neutral(0.390) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110530660 110530660 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177531.4 +1 validated p.R3985M 0.979 169 0% 154 37% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110539017 110539017 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177531.4 +1 validated p.K4163N 0.997 16 0% 19 42.1% 0 - benign(0.004) tolerated(0.16) neutral(0.059) NULL EBAG9 9166 genome.wustl.edu 37 8 110575704 110575704 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000276658 +1 known p.Q200H 0.000 470 0% 336 27.4% 0 - benign(0) tolerated(0.32) neutral(0.024) NULL KCNV1 27012 genome.wustl.edu 37 8 110984758 110984758 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014379.2 -1 reviewed p.Q240H 0.986 102 0% 60 31.7% 0 - benign(0) deleterious(0.05) neutral(0.345) superfamily_Voltage-gated potassium channels CSMD3 114788 genome.wustl.edu 37 8 113243817 113243817 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198123.1 -1 validated p.F3595L 1.000 361 0% 297 27.3% 0 - possibly_damaging(0.756) tolerated(0.26) neutral(0.313) NULL CSMD3 114788 genome.wustl.edu 37 8 113317093 113317093 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198123.1 -1 validated p.R2708Q 1.000 115 0% 79 22.8% 0 - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113323359 113323359 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198123.1 -1 validated p.G2578E 1.000 181 0% 120 34.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113529325 113529325 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198123.1 -1 validated p.R1565I 1.000 217 0.5% 198 32.3% 0 - possibly_damaging(0.918) tolerated(0.1) deleterious(0.655) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113599465 113599465 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198123.1 -1 validated e23-1 1.000 134 0% 82 26.8% 0 - - - - - CSMD3 114788 genome.wustl.edu 37 8 113649123 113649123 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198123.1 -1 validated p.R1213Q 1.000 130 0.8% 127 22% 0 - probably_damaging(0.954) tolerated(0.21) neutral(0.442) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113697858 113697858 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198123.1 -1 validated p.S753 1.000 298 0% 221 29.9% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113702155 113702155 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198123.1 -1 validated p.E699D 1.000 344 0.3% 264 34.1% 0 - unknown(0) tolerated(0.43) - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113933946 113933946 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198123.1 -1 validated p.D515Y 1.000 296 0% 245 29% 0 - unknown(0) deleterious(0.03) - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113988224 113988224 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198123.1 -1 validated p.R395Q 1.000 96 0% 75 26.7% 0 - unknown(0) deleterious(0) - NULL CSMD3 114788 genome.wustl.edu 37 8 114186126 114186126 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198123.1 -1 validated p.C178 1.000 148 0% 80 43.8% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain TRPS1 7227 genome.wustl.edu 37 8 116599311 116599311 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014112.2 -1 reviewed p.G873R 0.992 134 0% 108 29.6% 2 0% benign(0.383) deleterious(0) deleterious(0.567) NULL TRPS1 7227 genome.wustl.edu 37 8 116599694 116599694 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014112.2 -1 reviewed p.A745D 0.441 271 0% 239 27.2% 8 25% benign(0.116) deleterious(0) neutral(0.454) NULL TRPS1 7227 genome.wustl.edu 37 8 116631583 116631583 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014112.2 -1 reviewed p.D248N 1.000 244 0% 157 27.4% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_ZnF_C2H2 UTP23 84294 genome.wustl.edu 37 8 117783964 117783964 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032334.2 +1 validated p.K211N 1.000 226 0% 214 10.3% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EXT1 2131 genome.wustl.edu 37 8 119122996 119122996 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000127.2 -1 reviewed p.K97T 1.000 100 0% 71 31% 23 30.4% benign(0.001) tolerated(0.36) neutral(0.020) NULL ENPP2 5168 genome.wustl.edu 37 8 120575171 120575171 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006209.3 -1 reviewed p.D835N 1.000 124 0% 149 29.5% 22 0% possibly_damaging(0.846) tolerated(0.47) neutral(0.336) HMMPfam_Endonuclease_NS,HMMSmart_SM00477,superfamily_His-Me finger endonucleases ENPP2 5168 genome.wustl.edu 37 8 120580414 120580414 + Splice_Site SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006209.3 -1 reviewed e23+1 1.000 236 0% 193 31.6% 0 - - - - - TAF2 6873 genome.wustl.edu 37 8 120801091 120801091 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003184.3 -1 reviewed p.R541Q 1.000 312 0% 201 26.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL TAF2 6873 genome.wustl.edu 37 8 120809949 120809949 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003184.3 -1 reviewed p.D310 1.000 128 0% 123 30.9% 6 16.6% - - - HMMPfam_Peptidase_M1,superfamily_SSF55486 DSCC1 79075 genome.wustl.edu 37 8 120862688 120862688 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024094.2 -1 validated p.K140 1.000 149 0% 156 33.3% 6 33.3% - - - HMMPfam_DUF2036 COL14A1 7373 genome.wustl.edu 37 8 121279119 121279119 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021110.1 +1 validated p.E1024* 1.000 280 0% 276 31.5% 3 0% - - - NULL ZHX2 22882 genome.wustl.edu 37 8 123964601 123964601 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014943.3 +1 reviewed p.F284C 1.000 132 0% 152 28.3% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_HOX,superfamily_Homeodomain_like WDR67 93594 genome.wustl.edu 37 8 124132355 124132355 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145647.3 +1 validated p.L499 0.653 47 0% 46 28.3% 3 100% - - - NULL ZHX1 11244 genome.wustl.edu 37 8 124265893 124265893 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017926.1 -1 reviewed p.R765I 0.985 329 0.3% 334 31.4% 4 50% probably_damaging(0.982) tolerated(0.16) deleterious(0.486) superfamily_Homeodomain_like ATAD2 29028 genome.wustl.edu 37 8 124351651 124351651 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014109.3 -1 reviewed p.I918M 1.000 95 0% 78 24.4% 6 33.3% benign(0.381) deleterious(0.03) deleterious(0.486) superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD2 29028 genome.wustl.edu 37 8 124371482 124371482 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014109.3 -1 reviewed p.K454T 1.000 278 0% 252 31.3% 3 33.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD2 29028 genome.wustl.edu 37 8 124383979 124383979 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014109.3 -1 reviewed p.R156Q 1.000 97 0% 103 35% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KLHL38 340359 genome.wustl.edu 37 8 124658211 124658211 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081675.2 -1 validated p.A505V 0.999 222 0% 248 27.4% 0 - probably_damaging(0.974) tolerated(0.16) deleterious(0.475) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain FER1L6 654463 genome.wustl.edu 37 8 124992833 124992833 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039112.2 +1 validated p.L398V 0.133 299 0% 274 28.5% 0 - probably_damaging(0.956) tolerated(0.09) deleterious(0.696) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FER1L6 654463 genome.wustl.edu 37 8 125072925 125072925 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039112.2 +1 validated p.S1041N 0.000 144 0% 137 26.3% 0 - benign(0.001) tolerated(0.74) neutral(0.002) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TRMT12 55039 genome.wustl.edu 37 8 125464044 125464044 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017956.3 +1 validated p.G292 0.999 180 0% 188 30.3% 4 25% - - - HMMPfam_Met_10,superfamily_SSF53335 RNF139 11236 genome.wustl.edu 37 8 125498540 125498540 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007218.3 +1 reviewed p.R217Q 1.000 442 0.2% 402 27.1% 21 57.1% benign(0.343) tolerated(0.44) neutral(0.120) NULL RNF139 11236 genome.wustl.edu 37 8 125499376 125499376 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007218.3 +1 reviewed p.R496W 1.000 297 0% 278 26.6% 35 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MTSS1 9788 genome.wustl.edu 37 8 125577954 125577954 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014751.4 -1 validated p.T258M 1.000 110 0.9% 105 33.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF572 137209 genome.wustl.edu 37 8 125988899 125988899 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152412.2 +1 validated p.R130K 1.000 274 0% 270 30.4% 0 - benign(0) tolerated(1) - superfamily_SSF57667 ZNF572 137209 genome.wustl.edu 37 8 125989133 125989133 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152412.2 +1 validated p.R208I 1.000 270 0% 258 30.2% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF572 137209 genome.wustl.edu 37 8 125989430 125989430 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152412.2 +1 validated p.K307T 1.000 243 0% 217 30.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 KIAA0196 9897 genome.wustl.edu 37 8 126069007 126069007 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014846.3 -1 reviewed p.K643T 1.000 240 0% 225 33.8% 19 42.1% benign(0.006) tolerated(0.57) neutral(0.006) HMMPfam_Strumpellin GSDMC 56169 genome.wustl.edu 37 8 130772820 130772820 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031415.2 -1 validated p.D231G 0.000 398 0.3% 331 24.8% 0 - probably_damaging(0.988) tolerated(0.64) neutral(0.441) HMMPfam_Gasdermin ADCY8 114 genome.wustl.edu 37 8 131797663 131797663 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001115.2 -1 reviewed p.Y1040C 1.000 183 0% 182 11.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ADCY8 114 genome.wustl.edu 37 8 131861935 131861935 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001115.2 -1 reviewed p.C775 1.000 117 0% 119 32.8% 0 - - - - NULL ADCY8 114 genome.wustl.edu 37 8 131922053 131922053 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001115.2 -1 reviewed p.S514L 1.000 246 0% 247 30.4% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase EFR3A 23167 genome.wustl.edu 37 8 132957061 132957061 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015137.3 +1 validated p.R53* 1.000 82 0% 81 40.7% 1 0% - - - superfamily_ARM repeat EFR3A 23167 genome.wustl.edu 37 8 132958775 132958775 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015137.3 +1 validated p.A87 0.986 91 0% 80 31.2% 7 14.2% - - - superfamily_ARM repeat OC90 729330 genome.wustl.edu 37 8 133044137 133044137 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080399.2 -1 validated p.D341G 0.283 268 0% 217 30.9% 0 - benign(0.097) tolerated(0.17) neutral(0.067) HMMPfam_Phospholip_A2_1,HMMSmart_SM00085,superfamily_Phospholipase A2 PLA2 OC90 729330 genome.wustl.edu 37 8 133049696 133049696 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080399.2 -1 validated p.L223R 0.002 42 0% 26 34.6% 0 - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL KCNQ3 3786 genome.wustl.edu 37 8 133141973 133141973 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004519.2 -1 reviewed p.N719H 0.025 64 0% 71 28.2% 0 - benign(0.159) tolerated(0.07) neutral(0.333) NULL TMEM71 137835 genome.wustl.edu 37 8 133726262 133726262 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144649.2 -1 validated p.F265C 0.967 143 0% 109 26.6% 0 - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) NULL PHF20L1 51105 genome.wustl.edu 37 8 133811066 133811066 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016018.4 +1 validated p.R130I 1.000 55 0% 49 26.5% 0 - probably_damaging(0.996) tolerated(0.05) deleterious(0.807) HMMSmart_SM00333,HMMSmart_SM00743,superfamily_Tudor/PWWP/MBT TG 7038 genome.wustl.edu 37 8 133899012 133899012 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003235.4 +1 reviewed p.K465N 0.984 334 0% 283 33.6% 0 - possibly_damaging(0.899) deleterious(0) deleterious(0.800) NULL TG 7038 genome.wustl.edu 37 8 133899196 133899196 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003235.4 +1 reviewed p.D527N 0.004 234 0% 196 31.1% 0 - benign(0.018) tolerated(0.1) neutral(0.287) NULL TG 7038 genome.wustl.edu 37 8 133941364 133941364 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003235.4 +1 reviewed p.F1581 0.188 222 0% 177 26.6% 0 - - - - NULL TG 7038 genome.wustl.edu 37 8 133981744 133981744 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003235.4 +1 reviewed p.P1969S 1.000 242 0% 186 29.6% 0 - probably_damaging(0.994) tolerated(0.25) deleterious(0.489) NULL TG 7038 genome.wustl.edu 37 8 134042143 134042143 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003235.4 +1 reviewed p.G2372* 0.001 110 0% 91 34.1% 1 0% - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases TG 7038 genome.wustl.edu 37 8 134108593 134108593 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003235.4 +1 reviewed p.L2516 0.994 220 0% 236 26.7% 1 0% - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases ST3GAL1 6482 genome.wustl.edu 37 8 134477152 134477152 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003033.3 -1 reviewed p.K184 0.985 160 0% 129 38% 2 0% - - - HMMPfam_Glyco_transf_29 ZFAT 57623 genome.wustl.edu 37 8 135622725 135622725 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020863.3 -1 reviewed p.E208K 0.998 100 0% 71 28.2% 2 0% possibly_damaging(0.787) deleterious(0) deleterious(0.739) NULL KHDRBS3 10656 genome.wustl.edu 37 8 136533532 136533532 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006558.1 +1 provisional p.D47 1.000 304 0% 285 28.8% 8 12.5% - - - NULL KHDRBS3 10656 genome.wustl.edu 37 8 136561120 136561120 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006558.1 +1 provisional p.E150K 1.000 155 0% 105 22.9% 5 60% possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) KHDRBS3 10656 genome.wustl.edu 37 8 136657360 136657360 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006558.1 +1 provisional p.G317R 1.000 234 0% 199 36.7% 3 0% benign(0.186) deleterious(0.04) neutral(0.366) NULL COL22A1 169044 genome.wustl.edu 37 8 139737634 139737634 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152888.1 -1 validated p.S730Y 1.000 85 0% 82 36.6% 0 - unknown(0) tolerated(0.08) - HMMPfam_Collagen PTK2 5747 genome.wustl.edu 37 8 141900789 141900789 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005607.3 -1 reviewed p.S38 0.002 212 0.5% 188 26.1% 8 25% - - - NULL FLJ43860 389690 genome.wustl.edu 37 8 142446153 142446153 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207414.2 -1 validated p.R1139W 0.017 5 0.000 14 0.357 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat BAI1 575 genome.wustl.edu 37 8 143562691 143562691 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001702.2 +1 reviewed p.V635 0.995 50 0% 49 26.5% 4 100% - - - HMMPfam_HRM,HMMSmart_SM00008 CYP11B1 1584 genome.wustl.edu 37 8 143957179 143957179 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000497.3 -1 reviewed p.K357T 0.014 101 0% 68 27.9% 0 - benign(0.015) tolerated(0.2) neutral(0.050) HMMPfam_p450,superfamily_Cytochrome_P450 PARP10 84875 genome.wustl.edu 37 8 145057102 145057102 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032789.3 -1 validated p.R852C 0.008 80 1.3% 41 39% 43 32.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PARP,superfamily_SSF56399 ZNF251 90987 genome.wustl.edu 37 8 145947939 145947939 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138367.1 -1 validated p.R369I 0.999 193 0% 198 27.3% 6 16.6% probably_damaging(0.994) tolerated(0.16) deleterious(0.512) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF16 7564 genome.wustl.edu 37 8 146157410 146157410 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029976.2 -1 reviewed p.R255C 0.035 434 0% 397 30.2% 3 33.3% benign(0.279) deleterious(0) deleterious(0.475) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF252 286101 genome.wustl.edu 37 8 146202331 146202331 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000355436 -1 known p.E506A 0.302 24 0% 33 24.2% 2 0% probably_damaging(0.976) tolerated(0.17) deleterious(0.477) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C9orf66 157983 genome.wustl.edu 37 9 214923 214923 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152569.2 -1 validated p.G158 0.000 8 0.000 12 0.667 0 - - - - NULL DOCK8 81704 genome.wustl.edu 37 9 304652 304652 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203447.3 +1 reviewed p.P91L 1.000 431 0% 377 25.5% 0 - benign(0.026) tolerated(0.6) neutral(0.005) NULL DOCK8 81704 genome.wustl.edu 37 9 405083 405083 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000382331 +1 known p.E436K 0.057 32 0% 60 38.3% 0 - benign(0.017) - - NULL DOCK8 81704 genome.wustl.edu 37 9 414934 414934 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203447.3 +1 reviewed p.Q1160R 1.000 143 0% 217 34.6% 2 0% benign(0.118) tolerated(0.58) neutral(0.014) NULL DOCK8 81704 genome.wustl.edu 37 9 420538 420538 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203447.3 +1 reviewed p.R1258 0.995 88 0% 106 23.6% 0 - - - - NULL DMRT1 1761 genome.wustl.edu 37 9 894133 894133 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021951.2 +1 reviewed p.K254E 1.000 123 0% 117 34.2% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SMARCA2 6595 genome.wustl.edu 37 9 2054700 2054700 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003070.3 +1 reviewed p.R384W 0.997 117 0% 128 28.1% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL SMARCA2 6595 genome.wustl.edu 37 9 2058342 2058342 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003070.3 +1 reviewed p.R467W 1.000 153 0% 151 26.5% 1 0% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_HSA,HMMSmart_SM00573 VLDLR 7436 genome.wustl.edu 37 9 2639887 2639887 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003383.3 +1 reviewed p.F77 0.998 175 0% 170 35.3% 12 58.3% - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module,HMMSmart_SM00181 GLIS3 169792 genome.wustl.edu 37 9 4125916 4125916 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042413.1 -1 reviewed p.C138 1.000 140 0% 147 27.2% 4 0% - - - NULL SLC1A1 6505 genome.wustl.edu 37 9 4567711 4567711 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004170.5 +1 reviewed p.E176* 0.006 118 0% 102 16.7% 0 - - - - HMMPfam_SDF CDC37L1 55664 genome.wustl.edu 37 9 4697108 4697108 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017913.2 +1 validated p.R174Q 1.000 97 0% 109 14.7% 10 30% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_CDC37_M,superfamily_SSF101391 INSL6 11172 genome.wustl.edu 37 9 5163940 5163940 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007179.2 -1 reviewed p.R205S 0.000 190 0% 112 26.8% 0 - benign(0.166) tolerated(0.45) neutral(0.027) NULL KIAA2026 158358 genome.wustl.edu 37 9 5968511 5968511 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017969.2 -1 validated p.R574C 0.409 224 0.9% 199 32.2% 3 66.6% benign(0.006) deleterious(0.03) neutral(0.364) NULL KIAA2026 158358 genome.wustl.edu 37 9 5968973 5968973 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017969.2 -1 validated p.E420K 1.000 62 0% 55 30.9% 1 0% possibly_damaging(0.903) deleterious(0.04) deleterious(0.707) NULL RANBP6 26953 genome.wustl.edu 37 9 6013016 6013016 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012416.2 -1 validated p.K864N 1.000 140 0% 116 36.2% 6 50% benign(0.009) tolerated(0.46) neutral(0.013) superfamily_ARM-type_fold RANBP6 26953 genome.wustl.edu 37 9 6014080 6014080 + Missense_Mutation SNP G G A rs184802439 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012416.2 -1 validated p.R510W 1.000 87 0% 88 25% 1 0% probably_damaging(0.965) deleterious(0) deleterious(0.851) superfamily_ARM-type_fold UHRF2 115426 genome.wustl.edu 37 9 6482096 6482096 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152896.1 +1 reviewed p.V463 0.999 194 0% 193 25.9% 6 0% - - - HMMPfam_YDG_SRA,HMMSmart_SM00466 LOC100287684 100287684 genome.wustl.edu 37 9 6835533 6835533 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342904.1 -1 model p.L10I 1.000 154 0% 99 15.2% 2 0% - - - NULL KDM4C 23081 genome.wustl.edu 37 9 7013975 7013975 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015061.3 +1 reviewed p.A719G 0.993 512 0% 365 30.7% 4 100% benign(0.054) tolerated(0.28) neutral(0.035) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger PTPRD 5789 genome.wustl.edu 37 9 8317921 8317921 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002839.3 -1 reviewed p.R1898C 1.000 239 0% 248 31.5% 2 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRD 5789 genome.wustl.edu 37 9 8319913 8319913 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002839.3 -1 reviewed p.R1863I 1.000 131 0.8% 150 42% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRD 5789 genome.wustl.edu 37 9 8404586 8404586 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002839.3 -1 reviewed p.A1387 0.989 107 0% 86 19.8% 0 - - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRD 5789 genome.wustl.edu 37 9 8633326 8633326 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002839.3 -1 reviewed p.V115I 1.000 225 0% 197 26.9% 0 - possibly_damaging(0.516) tolerated(0.22) neutral(0.215) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MPDZ 8777 genome.wustl.edu 37 9 13113021 13113021 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003829.3 -1 validated p.E1835K 1.000 38 0% 31 16.1% 1 0% probably_damaging(0.998) tolerated(0.32) deleterious(0.498) HMMPfam_PDZ,superfamily_PDZ domain-like MPDZ 8777 genome.wustl.edu 37 9 13125217 13125217 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003829.3 -1 validated p.R1602Q 0.644 146 0% 135 40% 1 100% benign(0.204) tolerated(0.58) neutral(0.025) NULL MPDZ 8777 genome.wustl.edu 37 9 13206030 13206030 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003829.3 -1 validated p.Q453H 0.706 77 0% 65 24.6% 0 - possibly_damaging(0.613) tolerated(0.06) deleterious(0.535) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like FREM1 158326 genome.wustl.edu 37 9 14759789 14759789 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144966.5 -1 reviewed p.S1772L 0.989 227 0% 235 29.4% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) PatternScan_SPASE_I_1 FREM1 158326 genome.wustl.edu 37 9 14774072 14774072 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000427623 -1 known p.I29 0.000 404 0% 315 30.2% 0 - - - - NULL FREM1 158326 genome.wustl.edu 37 9 14805012 14805012 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144966.5 -1 reviewed p.S1138Y 0.035 99 0% 103 26.2% 0 - benign(0) tolerated(0.42) neutral(0.014) NULL FREM1 158326 genome.wustl.edu 37 9 14812939 14812939 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144966.5 -1 reviewed p.D922N 1.000 491 0% 460 27% 1 0% benign(0.006) tolerated(0.22) neutral(0.042) NULL TTC39B 158219 genome.wustl.edu 37 9 15214170 15214170 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152574.2 -1 validated p.K84T 0.994 134 0% 107 31.8% 7 28.5% possibly_damaging(0.946) deleterious(0.02) deleterious(0.773) HMMPfam_Deme6 SNAPC3 6619 genome.wustl.edu 37 9 15453116 15453116 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039697.1 +1 validated p.F298S 1.000 163 0% 150 24.7% 33 42.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PSIP1 11168 genome.wustl.edu 37 9 15471302 15471302 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000380715 -1 known p.L329 1.000 89 0% 55 29.1% 1 0% - - - NULL C9orf93 203238 genome.wustl.edu 37 9 15744484 15744484 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173550.2 +1 predicted p.L755I 1.000 374 0% 298 31.2% 0 - benign(0.35) deleterious(0) deleterious(0.555) NULL C9orf93 203238 genome.wustl.edu 37 9 15779036 15779036 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173550.2 +1 predicted p.R990H 0.998 117 0% 79 39.2% 3 0% possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL BNC2 54796 genome.wustl.edu 37 9 16419043 16419043 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017637.5 -1 validated p.R1082W 1.000 168 0.6% 146 19.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00355 BNC2 54796 genome.wustl.edu 37 9 16419599 16419599 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017637.5 -1 validated p.L896 1.000 145 0% 149 31.5% 1 0% - - - NULL BNC2 54796 genome.wustl.edu 37 9 16436043 16436043 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017637.5 -1 validated p.E717* 1.000 196 0% 141 24.1% 2 0% - - - NULL BNC2 54796 genome.wustl.edu 37 9 16436658 16436658 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017637.5 -1 validated p.R512W 1.000 111 0% 128 34.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CNTLN 54875 genome.wustl.edu 37 9 17309143 17309143 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017738.2 +1 validated p.L412 0.996 101 0% 53 28.3% 0 - - - - NULL CNTLN 54875 genome.wustl.edu 37 9 17340832 17340832 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017738.2 +1 validated p.E551A 1.000 142 0% 109 22.9% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL ADAMTSL1 92949 genome.wustl.edu 37 9 18533279 18533279 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040272.4 +1 validated p.C76R 0.997 83 0% 84 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTSL1 92949 genome.wustl.edu 37 9 18661948 18661948 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040272.4 +1 validated p.S321L 1.000 198 0% 145 33.1% 0 - probably_damaging(0.998) tolerated(0.15) deleterious(0.716) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTSL1 92949 genome.wustl.edu 37 9 18721589 18721589 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000276935 +1 known p.R432K 0.988 151 0% 108 13% 1 0% - - - HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTSL1 92949 genome.wustl.edu 37 9 18777227 18777227 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040272.4 +1 validated p.G1000 0.079 21 0% 24 45.8% 0 - - - - NULL RRAGA 10670 genome.wustl.edu 37 9 19049932 19049932 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006570.4 +1 validated p.F92S 1.000 87 0% 57 31.6% 138 41.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases DENND4C 55667 genome.wustl.edu 37 9 19324431 19324431 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017925.4 +1 provisional p.R391C 1.000 257 0% 202 30.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_dDENN,HMMSmart_SM00801 DENND4C 55667 genome.wustl.edu 37 9 19357969 19357969 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017925.4 +1 provisional p.E1372D 0.002 60 0% 72 30.6% 7 14.2% benign(0.285) tolerated(0.52) neutral(0.096) NULL SLC24A2 25769 genome.wustl.edu 37 9 19550152 19550152 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020344.1 -1 provisional p.P488S 1.000 260 0% 178 32% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MLLT3 4300 genome.wustl.edu 37 9 20414132 20414132 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004529.2 -1 validated p.E238* 1.000 392 0% 302 29.8% 1 0% - - - NULL IFNA10 3446 genome.wustl.edu 37 9 21206776 21206776 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002171.1 -1 provisional p.K107N 0.000 366 0% 348 26.4% 0 - benign(0.323) deleterious(0.02) deleterious(0.484) HMMPfam_Interferon,HMMSmart_SM00076,superfamily_4-helical cytokines IFNA2 3440 genome.wustl.edu 37 9 21385071 21385071 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000605.3 -1 validated p.I86 0.002 257 0% 332 27.1% 0 - - - - HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine DMRTA1 63951 genome.wustl.edu 37 9 22451497 22451497 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022160.2 +1 validated p.E368* 1.000 162 0% 95 27.4% 0 - - - - NULL IFT74 80173 genome.wustl.edu 37 9 27048219 27048219 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099222.1 +1 validated p.F427S 1.000 111 0% 100 36% 12 8.3% benign(0.249) tolerated(0.2) neutral(0.074) NULL TEK 7010 genome.wustl.edu 37 9 27190607 27190607 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000459.3 +1 reviewed p.Y470H 1.000 347 0.3% 339 35.1% 1 0% benign(0.104) deleterious(0) neutral(0.453) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like C9orf11 54586 genome.wustl.edu 37 9 27289725 27289725 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020641.2 -1 validated p.I142M 0.382 90 0% 71 26.8% 0 - benign(0.278) deleterious(0.02) neutral(0.413) NULL C9orf72 203228 genome.wustl.edu 37 9 27566901 27566901 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018325.2 -1 validated p.R73Q 1.000 102 0% 96 31.2% 3 0% probably_damaging(0.974) tolerated(0.07) deleterious(0.735) NULL LINGO2 158038 genome.wustl.edu 37 9 27949147 27949147 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152570.1 -1 provisional p.F508S 1.000 192 0% 147 27.9% 0 - benign(0) tolerated(0.9) - NULL LINGO2 158038 genome.wustl.edu 37 9 27949498 27949498 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152570.1 -1 provisional p.R391M 0.907 125 0% 81 30.9% 0 - benign(0.394) deleterious(0.02) deleterious(0.510) HMMSmart_LRRCT,superfamily_SSF52058 ACO1 48 genome.wustl.edu 37 9 32433766 32433766 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002197.2 +1 reviewed p.D631G 1.000 243 0.4% 205 26.3% 16 0% benign(0) tolerated(1) - NULL DDX58 23586 genome.wustl.edu 37 9 32459487 32459487 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014314.3 -1 reviewed p.K788T 0.937 117 0% 103 27.2% 6 33.3% benign(0.37) deleterious(0.02) deleterious(0.500) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX58 23586 genome.wustl.edu 37 9 32466345 32466345 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014314.3 -1 reviewed p.M760I 1.000 110 0% 71 26.8% 9 55.5% benign(0.004) tolerated(0.33) neutral(0.024) superfamily_P-loop containing nucleoside triphosphate hydrolases TAF1L 138474 genome.wustl.edu 37 9 32631084 32631084 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153809.2 -1 provisional p.E1498D 0.998 391 0% 429 32.9% 0 - benign(0.002) tolerated(0.26) neutral(0.034) HMMSmart_BROMO,superfamily_Bromodomain TAF1L 138474 genome.wustl.edu 37 9 32631196 32631196 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153809.2 -1 provisional p.R1461Q 1.000 391 0% 435 10.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 TAF1L 138474 genome.wustl.edu 37 9 32631823 32631823 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153809.2 -1 provisional p.R1252Q 1.000 267 0% 296 34.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TAF1L 138474 genome.wustl.edu 37 9 32632905 32632905 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153809.2 -1 provisional p.T891 1.000 273 0% 318 29.2% 0 - - - - NULL TAF1L 138474 genome.wustl.edu 37 9 32633360 32633360 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153809.2 -1 provisional p.E740K 1.000 306 0% 322 31.7% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL TAF1L 138474 genome.wustl.edu 37 9 32633905 32633905 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153809.2 -1 provisional p.R558Q 1.000 484 0% 496 30.8% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL AQP7 364 genome.wustl.edu 37 9 33387085 33387085 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001170.1 -1 reviewed p.F50 0.982 167 0% 179 11.7% 0 - - - - HMMPfam_MIP,superfamily_MIP NOL6 65083 genome.wustl.edu 37 9 33462765 33462765 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022917.4 -1 reviewed p.L1113R 0.017 102 0% 75 28% 33 30.3% possibly_damaging(0.584) tolerated(0.44) neutral(0.214) HMMPfam_Nrap UBAP2 55833 genome.wustl.edu 37 9 33943461 33943461 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018449.2 -1 reviewed p.N558H 0.992 220 0% 190 31.1% 11 36.3% benign(0.121) tolerated(0.09) neutral(0.306) NULL UBAP2 55833 genome.wustl.edu 37 9 33989068 33989068 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018449.2 -1 reviewed p.E115 1.000 347 0% 282 35.5% 7 57.1% - - - NULL KIF24 347240 genome.wustl.edu 37 9 34257854 34257854 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194313.2 -1 validated p.S584Y 1.000 124 0% 141 13.5% 0 - possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL KIF24 347240 genome.wustl.edu 37 9 34257897 34257897 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194313.2 -1 validated p.R570* 1.000 177 0% 179 31.3% 2 0% - - - NULL C9orf24 84688 genome.wustl.edu 37 9 34397628 34397628 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032596.3 -1 reviewed p.F2L 1.000 156 0% 120 25.8% 0 - possibly_damaging(0.636) deleterious(0) deleterious(0.667) NULL DNAI1 27019 genome.wustl.edu 37 9 34490458 34490458 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012144.2 +1 reviewed p.A198D 1.000 260 0% 200 29.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like KIAA1045 23349 genome.wustl.edu 37 9 34978067 34978067 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015297.1 +1 validated p.R388C 1.000 164 0% 172 28.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAJB5 25822 genome.wustl.edu 37 9 34997191 34997191 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135005.1 +1 validated p.R400C 1.000 175 0% 172 28.5% 22 50% probably_damaging(0.984) tolerated(0.05) deleterious(0.776) HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain VCP 7415 genome.wustl.edu 37 9 35063019 35063019 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007126.3 -1 reviewed p.R256Q 1.000 177 0% 118 33.1% 197 51.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases VCP 7415 genome.wustl.edu 37 9 35067943 35067943 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007126.3 -1 reviewed p.R83W 1.000 132 0.8% 130 19.2% 172 27.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CDC48_N,superfamily_ADC-like PIGO 84720 genome.wustl.edu 37 9 35091815 35091815 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032634.2 -1 reviewed p.R690H 1.000 44 0% 38 60.5% 13 38.4% benign(0.002) tolerated(0.78) neutral(0.001) NULL STOML2 30968 genome.wustl.edu 37 9 35100958 35100958 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013442.1 -1 provisional p.R259* 1.000 354 0% 299 15.7% 193 0.5% - - - NULL STOML2 30968 genome.wustl.edu 37 9 35101426 35101426 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013442.1 -1 provisional p.M192I 1.000 236 0% 217 27.6% 210 49% probably_damaging(0.985) deleterious(0.05) deleterious(0.777) HMMPfam_Band_7,HMMSmart_PHB FAM214B 80256 genome.wustl.edu 37 9 35106286 35106286 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025182.2 -1 predicted p.F394C 1.000 138 0% 121 29.8% 24 45.8% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL UNC13B 10497 genome.wustl.edu 37 9 35231179 35231179 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006377.3 +1 reviewed p.R39C 1.000 102 0% 73 34.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB UNC13B 10497 genome.wustl.edu 37 9 35310546 35310546 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006377.3 +1 reviewed p.E282K 0.997 204 0% 156 31.4% 4 100% benign(0.026) tolerated(0.74) neutral(0.003) NULL RUSC2 9853 genome.wustl.edu 37 9 35560450 35560450 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135999.1 +1 validated p.W1271C 1.000 49 0% 28 32.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RUSC2 9853 genome.wustl.edu 37 9 35560483 35560483 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135999.1 +1 validated p.I1282 0.938 62 0% 33 21.2% 4 0% - - - NULL TESK1 7016 genome.wustl.edu 37 9 35608987 35608987 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006285.2 +1 reviewed p.R377* 0.989 327 0% 307 28.3% 71 49.2% - - - NULL CD72 971 genome.wustl.edu 37 9 35616244 35616244 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001782.2 -1 validated p.T128 0.000 98 1% 115 34.8% 4 0% - - - NULL C9orf100 84904 genome.wustl.edu 37 9 35662589 35662589 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032818.2 -1 provisional p.K275E 0.984 39 0% 50 24% 13 7.6% benign(0.009) tolerated(0.1) neutral(0.287) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like TLN1 7094 genome.wustl.edu 37 9 35707750 35707750 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006289.3 -1 reviewed p.A1537V 1.000 168 0% 156 34% 70 15.7% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) superfamily_SSF109885 TLN1 7094 genome.wustl.edu 37 9 35711750 35711750 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006289.3 -1 reviewed p.R1241W 0.998 227 0% 199 28.6% 43 9.3% possibly_damaging(0.936) deleterious(0) deleterious(0.826) HMMPfam_VBS TLN1 7094 genome.wustl.edu 37 9 35724590 35724590 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006289.3 -1 reviewed p.K164E 1.000 617 0% 605 28.6% 21 14.2% possibly_damaging(0.838) deleterious(0) deleterious(0.764) HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 GBA2 57704 genome.wustl.edu 37 9 35744648 35744648 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020944.2 -1 reviewed p.D139N 1.000 77 0% 76 39.5% 8 37.5% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL GBA2 57704 genome.wustl.edu 37 9 35748417 35748417 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020944.2 -1 reviewed p.T95 0.580 207 0% 166 28.3% 6 66.6% - - - NULL TMEM8B 51754 genome.wustl.edu 37 9 35853531 35853531 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042589.1 +1 provisional p.C371* 1.000 39 0% 29 41.4% 2 100% - - - NULL OR13J1 392309 genome.wustl.edu 37 9 35870169 35870169 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004487.1 -1 provisional p.F77C 0.163 107 0% 81 24.7% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2S2 56656 genome.wustl.edu 37 9 35957992 35957992 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019897.2 -1 provisional p.M35T 0.963 141 0% 108 28.7% 0 - benign(0.001) tolerated(0.22) neutral(0.042) superfamily_SSF81321 RECK 8434 genome.wustl.edu 37 9 36100439 36100439 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021111.2 +1 reviewed p.V399 1.000 188 0% 158 31% 0 - - - - NULL ZCCHC7 84186 genome.wustl.edu 37 9 37305550 37305550 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032226.2 +1 validated p.R264C 0.000 255 0% 216 34.7% 9 33.3% benign(0) tolerated(0.17) neutral(0.059) HMMSmart_SM00343,superfamily_Retrovirus zinc finger-like domains ZCCHC7 84186 genome.wustl.edu 37 9 37349415 37349415 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032226.2 +1 validated p.C350F 1.000 214 0% 218 21.6% 21 42.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00343,superfamily_Retrovirus zinc finger-like domains FRMPD1 22844 genome.wustl.edu 37 9 37729762 37729762 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014907.2 +1 validated p.R217Q 0.997 204 0% 209 29.7% 0 - probably_damaging(0.994) tolerated(0.26) deleterious(0.486) HMMSmart_B41 FRMPD1 22844 genome.wustl.edu 37 9 37733798 37733798 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014907.2 +1 validated p.G398 0.998 161 0% 165 29.1% 0 - - - - HMMPfam_FERM_M,HMMSmart_B41 FRMPD1 22844 genome.wustl.edu 37 9 37745306 37745306 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014907.2 +1 validated p.E1093* 0.003 198 0% 135 31.1% 0 - - - - NULL DCAF10 79269 genome.wustl.edu 37 9 37861177 37861177 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024345.3 +1 validated p.R451Q 1.000 213 0% 192 31.2% 10 50% probably_damaging(0.995) tolerated(0.1) deleterious(0.744) superfamily_WD40 repeat-like MCART1 92014 genome.wustl.edu 37 9 37887672 37887672 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033412.3 -1 validated p.F292L 1.000 179 0% 122 27% 5 0% benign(0) tolerated(1) - superfamily_Mitoch_carrier,HMMPfam_Mito_carr ALDH1B1 219 genome.wustl.edu 37 9 38396515 38396515 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000692.3 +1 reviewed p.K257R 1.000 84 0% 80 27.5% 36 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldedh,superfamily_ALDH-like C9orf51 647044 genome.wustl.edu 37 9 38527536 38527536 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000377689 +1 known p.R148Q 0.001 51 0% 41 36.6% 0 - benign(0.24) tolerated(0.47) neutral(0.035) NULL ANKRD18A 253650 genome.wustl.edu 37 9 38615699 38615699 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000399703 -1 known p.I129 0.002 57 0% 38 36.8% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK CNTNAP3 79937 genome.wustl.edu 37 9 39088491 39088491 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033655.3 -1 reviewed p.R1050Q 0.002 153 0% 150 18% 0 - benign(0.008) tolerated(1) - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CNTNAP3 79937 genome.wustl.edu 37 9 39178280 39178280 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033655.3 -1 reviewed p.D206Y 0.781 291 0% 277 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases ZNF658 26149 genome.wustl.edu 37 9 40773242 40773242 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033160.5 -1 validated p.R678I 1.000 663 0% 491 26.1% 1 0% possibly_damaging(0.717) tolerated(0.23) neutral(0.301) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANKRD20A4 728747 genome.wustl.edu 37 9 69389983 69389983 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098805.1 +1 provisional p.E179D 0.001 397 0% 306 6.9% 0 - benign(0.235) tolerated(0.2) neutral(0.073) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD20A4 728747 genome.wustl.edu 37 9 69410113 69410113 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098805.1 +1 provisional p.D343Y 0.121 840 0% 804 10.4% 0 - possibly_damaging(0.85) deleterious(0.03) deleterious(0.692) NULL LOC100288765 100288765 genome.wustl.edu 37 9 69847060 69847060 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342925.1 +1 model p.R385I 1.000 95 0% 107 14% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CBWD3 445571 genome.wustl.edu 37 9 70912685 70912685 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201453.2 +1 validated p.K301N 1.000 652 0% 519 12.5% 0 - possibly_damaging(0.832) tolerated(0.27) neutral(0.351) HMMPfam_CobW_C,superfamily_Cbl_biosynth_CobW-like_C PGM5 5239 genome.wustl.edu 37 9 71098928 71098928 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021965.3 +1 validated p.Y481 0.652 320 0% 303 29.7% 0 - - - - HMMPfam_PGM_PMM_IV,superfamily_Phosphoglucomutase C-terminal domain FAM122A 116224 genome.wustl.edu 37 9 71395691 71395691 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138333.3 +1 validated p.R204I 1.000 202 0% 218 32.1% 17 11.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PRKACG 5568 genome.wustl.edu 37 9 71628435 71628435 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002732.3 -1 reviewed p.V192M 1.000 45 0% 42 21.4% 0 - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FAM189A2 9413 genome.wustl.edu 37 9 72002935 72002935 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000377216 +1 known p.M27V 0.004 16 0% 24 20.8% 0 - unknown(0) - - NULL C9orf135 138255 genome.wustl.edu 37 9 72471576 72471576 + Missense_Mutation SNP G G A rs148045947 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010940.1 +1 validated p.G123R 0.981 160 0% 144 28.5% 0 - probably_damaging(1) tolerated(0.29) deleterious(0.529) NULL SMC5 23137 genome.wustl.edu 37 9 72879294 72879294 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015110.3 +1 validated p.S87L 1.000 211 0% 161 31.1% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_SSF52540 TRPM3 80036 genome.wustl.edu 37 9 73151357 73151357 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007471.2 -1 reviewed p.S1546R 1.000 165 0% 196 31.6% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL TRPM3 80036 genome.wustl.edu 37 9 73151581 73151581 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007471.2 -1 reviewed p.S1471Y 1.000 128 0% 96 10.4% 0 - benign(0.002) tolerated(0.06) neutral(0.323) NULL TRPM3 80036 genome.wustl.edu 37 9 73167936 73167936 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007471.2 -1 reviewed p.S1121L 1.000 265 0% 284 32% 0 - possibly_damaging(0.804) deleterious(0.02) deleterious(0.685) NULL MIR204 406987 genome.wustl.edu 37 9 73424991 73424991 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000385200 -1 known NULL 1.000 175 0% 168 37.5% 0 - - - - - TMEM2 23670 genome.wustl.edu 37 9 74319525 74319525 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013390.2 -1 validated p.L1060 1.000 193 0% 207 31.4% 8 50% - - - NULL TMEM2 23670 genome.wustl.edu 37 9 74329881 74329881 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013390.2 -1 validated p.D854Y 1.000 138 0% 125 29.6% 8 37.5% possibly_damaging(0.538) deleterious(0.01) deleterious(0.588) NULL TMEM2 23670 genome.wustl.edu 37 9 74345107 74345107 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013390.2 -1 validated p.E612D 0.999 166 0% 163 29.4% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Pectin lyase-like FAM108B1 51104 genome.wustl.edu 37 9 74481837 74481837 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016014.2 -1 validated p.A245T 1.000 92 0% 91 34.1% 8 37.5% benign(0.004) tolerated(0.44) neutral(0.013) superfamily_SSF53474 TMC1 117531 genome.wustl.edu 37 9 75366838 75366838 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138691.2 +1 reviewed p.F203C 1.000 193 0% 236 30.5% 0 - probably_damaging(0.991) tolerated(0.07) deleterious(0.763) NULL ALDH1A1 216 genome.wustl.edu 37 9 75542084 75542084 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000689.3 -1 reviewed p.F151C 0.994 169 0% 106 28.3% 4 0% possibly_damaging(0.826) tolerated(0.05) deleterious(0.659) HMMPfam_Aldedh,superfamily_ALDH-like ANXA1 301 genome.wustl.edu 37 9 75769242 75769242 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000376912 +1 known p.M1I 0.012 46 0% 63 28.6% 0 - unknown(0) - - NULL RORB 6096 genome.wustl.edu 37 9 77282747 77282747 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006914.3 +1 reviewed p.K347N 1.000 155 0% 141 29.8% 0 - benign(0.402) deleterious(0.05) deleterious(0.474) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain TRPM6 140803 genome.wustl.edu 37 9 77400934 77400934 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017662.4 -1 reviewed p.F925 0.062 475 0% 348 31.6% 0 - - - - HMMPfam_Ion_trans TRPM6 140803 genome.wustl.edu 37 9 77407553 77407553 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017662.4 -1 reviewed p.F842C 1.000 201 0% 134 31.3% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL C9orf41 138199 genome.wustl.edu 37 9 77613613 77613613 + Nonsense_Mutation SNP G G A rs190060534 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152420.1 -1 predicted p.R271* 1.000 186 0.5% 135 31.1% 2 50% - - - HMMPfam_N2227,superfamily_SSF53335 PCSK5 5125 genome.wustl.edu 37 9 78790202 78790202 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000376767 +1 known p.S686L 0.001 72 0% 75 28% 0 - unknown(0) - - NULL PRUNE2 158471 genome.wustl.edu 37 9 79318375 79318377 + In_Frame_Del DEL GGT GGT - novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 GGT GGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015225.2 -1 validated p.T2718in_frame_del 0.998:0.952:0.923 - - - - - - - - - NULL PRUNE2 158471 genome.wustl.edu 37 9 79320710 79320710 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000426088 -1 known p.R1482* 0.000 160 0.6% 138 34.8% 0 - - - - NULL PRUNE2 158471 genome.wustl.edu 37 9 79321534 79321534 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015225.2 -1 validated p.P1886T 0.303 37 0% 43 30.2% 0 - benign(0.018) deleterious(0) neutral(0.445) NULL PRUNE2 158471 genome.wustl.edu 37 9 79323980 79323980 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000426088 -1 known p.R392C 0.000 122 0% 106 26.4% 0 - - - - NULL PRUNE2 158471 genome.wustl.edu 37 9 79465503 79465503 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015225.2 -1 validated p.F74L 1.000 339 0% 245 24.5% 0 - possibly_damaging(0.8) tolerated(0.06) deleterious(0.623) superfamily_SSF64182 VPS13A 23230 genome.wustl.edu 37 9 79836192 79836192 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033305.2 +1 reviewed p.K361Q 0.199 251 0% 235 31.9% 0 - benign(0.051) tolerated(0.36) neutral(0.023) NULL VPS13A 23230 genome.wustl.edu 37 9 79929530 79929530 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033305.2 +1 reviewed p.K1454N 0.998 185 0% 126 28.6% 0 - benign(0.062) tolerated(0.06) neutral(0.327) NULL VPS13A 23230 genome.wustl.edu 37 9 79936471 79936471 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033305.2 +1 reviewed p.I1880T 0.996 213 0% 218 41.3% 2 100% possibly_damaging(0.731) deleterious(0.01) deleterious(0.673) NULL VPS13A 23230 genome.wustl.edu 37 9 79952302 79952302 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033305.2 +1 reviewed p.S2076* 0.980 128 0% 148 29.7% 0 - - - - NULL VPS13A 23230 genome.wustl.edu 37 9 79981733 79981733 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033305.2 +1 reviewed p.L2806I 1.000 75 0% 52 30.8% 0 - possibly_damaging(0.894) tolerated(0.05) deleterious(0.698) NULL VPS13A 23230 genome.wustl.edu 37 9 79984284 79984284 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033305.2 +1 reviewed p.E2875* 1.000 250 0% 224 32.1% 2 0% - - - NULL TLE4 7091 genome.wustl.edu 37 9 82319751 82319751 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000496114 +1 known p.L12F 1.000 742 0% 479 29% 0 - - - - NULL TLE4 7091 genome.wustl.edu 37 9 82322053 82322053 + Nonsense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000376534 +1 known p.K318* 0.030 512 0% 388 28.1% 0 - - - - NULL RASEF 158158 genome.wustl.edu 37 9 85615382 85615382 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152573.2 -1 provisional p.S514* 0.078 138 0% 116 22.4% 0 - - - - NULL FRMD3 257019 genome.wustl.edu 37 9 85913715 85913715 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174938.4 -1 validated p.E340* 1.000 152 0% 163 32.5% 0 - - - - HMMPfam_FA,superfamily_PH domain-like UBQLN1 29979 genome.wustl.edu 37 9 86294871 86294871 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013438.4 -1 reviewed p.R177Q 1.000 204 0% 179 40.2% 64 40.6% benign(0.371) tolerated(0.37) neutral(0.137) NULL UBQLN1 29979 genome.wustl.edu 37 9 86297895 86297895 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013438.4 -1 reviewed p.G140D 1.000 129 0% 122 27% 38 31.5% benign(0.049) tolerated(0.48) neutral(0.014) NULL KIF27 55582 genome.wustl.edu 37 9 86482758 86482758 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017576.1 -1 provisional p.K925N 1.000 96 0% 71 35.2% 0 - possibly_damaging(0.739) deleterious(0) deleterious(0.715) NULL KIF27 55582 genome.wustl.edu 37 9 86518061 86518061 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017576.1 -1 provisional p.R458* 0.000 262 0% 245 31% 0 - - - - NULL HNRNPK 3190 genome.wustl.edu 37 9 86585178 86585178 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002140.3 -1 reviewed p.S420 0.408 144 0% 139 30.2% 671 61.5% - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) RMI1 80010 genome.wustl.edu 37 9 86617668 86617668 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024945.2 +1 validated p.C589 1.000 200 0% 218 33.9% 12 83.3% - - - NULL NTRK2 4915 genome.wustl.edu 37 9 87338531 87338531 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006180.3 +1 reviewed p.E209D 1.000 228 0% 187 34.2% 1 0% benign(0.035) tolerated(0.48) neutral(0.013) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 GOLM1 51280 genome.wustl.edu 37 9 88661396 88661396 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016548.3 -1 reviewed p.F152L 1.000 73 0% 60 28.3% 28 17.8% probably_damaging(0.996) tolerated(1) neutral(0.462) NULL ZCCHC6 79670 genome.wustl.edu 37 9 88968088 88968088 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024617.3 -1 validated p.F9 0.999 279 0% 189 34.4% 1 0% - - - NULL C9orf170 401535 genome.wustl.edu 37 9 89771581 89771581 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001709.2 +1 validated p.D88Y 0.000 116 0% 118 29.7% 0 - unknown(0) - - NULL DAPK1 1612 genome.wustl.edu 37 9 90254393 90254393 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004938.2 +1 reviewed p.F183C 1.000 510 0.2% 432 36.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase DAPK1 1612 genome.wustl.edu 37 9 90315115 90315115 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004938.2 +1 reviewed p.R945Q 1.000 178 0% 137 33.6% 2 0% probably_damaging(0.97) deleterious(0) deleterious(0.857) NULL DAPK1 1612 genome.wustl.edu 37 9 90322150 90322150 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004938.2 +1 reviewed p.A1388 0.000 37 0% 43 41.9% 5 0% - - - HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like C9orf79 286234 genome.wustl.edu 37 9 90500560 90500560 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178828.4 +1 validated p.A386 0.000 177 0% 145 29% 0 - - - - NULL C9orf79 286234 genome.wustl.edu 37 9 90502591 90502591 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178828.4 +1 validated p.D1063 0.000 91 0% 57 26.3% 0 - - - - NULL SECISBP2 79048 genome.wustl.edu 37 9 91940542 91940542 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024077.3 +1 reviewed p.R128Q 0.000 434 0% 411 31.4% 3 33.3% benign(0.15) deleterious(0) neutral(0.458) NULL SECISBP2 79048 genome.wustl.edu 37 9 91940885 91940885 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024077.3 +1 reviewed p.S169* 0.006 225 0% 219 29.2% 0 - - - - NULL SECISBP2 79048 genome.wustl.edu 37 9 91949453 91949453 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024077.3 +1 reviewed p.P299 1.000 132 0% 108 34.3% 3 0% - - - NULL SEMA4D 10507 genome.wustl.edu 37 9 92003878 92003878 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006378.3 -1 validated p.G287S 0.988 116 0% 68 29.4% 11 36.3% benign(0.003) tolerated(0.18) neutral(0.056) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema GADD45G 10912 genome.wustl.edu 37 9 92220687 92220687 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006705.3 +1 reviewed p.E87D 1.000 19 0% 13 30.8% 8 37.5% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_Ribosomal_L7Ae ROR2 4920 genome.wustl.edu 37 9 94488850 94488850 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004560.2 -1 reviewed p.E453 0.983 88 0% 65 33.8% 4 0% - - - NULL ROR2 4920 genome.wustl.edu 37 9 94519581 94519581 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004560.2 -1 reviewed p.A146T 0.980 206 0% 166 24.7% 5 20% benign(0.003) tolerated(0.52) neutral(0.009) HMMPfam_I-set,superfamily_SSF48726 SPTLC1 10558 genome.wustl.edu 37 9 94821472 94821472 + Missense_Mutation SNP C C T rs183695413 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006415.2 -1 reviewed p.E227K 0.999 120 0% 83 15.7% 31 16.1% benign(0.008) tolerated(0.75) neutral(0.002) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases IARS 3376 genome.wustl.edu 37 9 95005506 95005506 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002161.4 -1 reviewed p.R998C 1.000 85 0% 71 28.2% 56 41% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OGN 4969 genome.wustl.edu 37 9 95165682 95165682 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014057.3 -1 reviewed p.T3N 0.948 66 0% 45 40% 1 0% benign(0.023) deleterious(0) neutral(0.446) NULL OMD 4958 genome.wustl.edu 37 9 95179082 95179082 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005014.2 -1 validated p.F253 0.057 182 0% 181 32.6% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like IPPK 64768 genome.wustl.edu 37 9 95378146 95378146 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022755.4 -1 validated p.E482K 0.993 68 0% 47 61.7% 5 100% benign(0.393) deleterious(0.02) deleterious(0.509) NULL IPPK 64768 genome.wustl.edu 37 9 95400409 95400409 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022755.4 -1 validated p.V264M 0.968 40 0% 30 20% 4 75% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_Ins_P5_2-kin ZNF484 83744 genome.wustl.edu 37 9 95609601 95609601 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031486.1 -1 provisional p.H490N 1.000 197 0.5% 201 29.4% 1 100% possibly_damaging(0.711) deleterious(0.01) deleterious(0.663) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FAM120A 23196 genome.wustl.edu 37 9 96233641 96233641 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014612.3 +1 validated p.N231K 0.994 217 0% 198 29.3% 51 39.2% possibly_damaging(0.915) tolerated(0.86) neutral(0.367) superfamily_PIN domain-like FAM120A 23196 genome.wustl.edu 37 9 96259861 96259861 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014612.3 +1 validated p.D305Y 1.000 86 0% 84 23.8% 44 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PHF2 5253 genome.wustl.edu 37 9 96436081 96436081 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005392.3 +1 reviewed p.D855N 0.981 26 0% 22 22.7% 18 27.7% possibly_damaging(0.9) tolerated(0.11) deleterious(0.628) NULL PTPDC1 138639 genome.wustl.edu 37 9 96847620 96847620 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152422.3 +1 reviewed p.A109V 0.992 128 0.8% 124 33.1% 1 0% possibly_damaging(0.879) tolerated(0.09) deleterious(0.639) NULL PTCH1 5727 genome.wustl.edu 37 9 98224149 98224149 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000264.3 -1 reviewed p.D898N 1.000 40 0% 30 23.3% 5 20% benign(0.006) tolerated(0.34) neutral(0.023) HMMPfam_Patched C9orf102 375748 genome.wustl.edu 37 9 98643528 98643528 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010895.2 +1 validated p.G153* 1.000 161 0% 149 24.8% 0 - - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases C9orf102 375748 genome.wustl.edu 37 9 98703759 98703759 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010895.2 +1 validated p.F603S 1.000 108 0% 98 34.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases HABP4 22927 genome.wustl.edu 37 9 99228053 99228053 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014282.2 +1 validated p.D246Y 1.000 145 0% 89 38.2% 11 45.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HABP4_PAI-RBP1 CDC14B 8555 genome.wustl.edu 37 9 99284870 99284870 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033331.2 -1 reviewed p.E421K 0.999 70 0% 92 31.5% 4 0% benign(0.424) tolerated(0.11) neutral(0.409) NULL CDC14B 8555 genome.wustl.edu 37 9 99296263 99296263 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033331.2 -1 reviewed p.E298* 1.000 57 0% 44 31.8% 4 0% - - - HMMPfam_DSPc,HMMSmart_SM00404,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II ZNF510 22869 genome.wustl.edu 37 9 99522531 99522531 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014930.1 -1 provisional p.R194I 0.171 145 0% 149 13.4% 1 0% possibly_damaging(0.928) tolerated(0.31) neutral(0.403) NULL ZNF782 158431 genome.wustl.edu 37 9 99580392 99580392 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001662.1 -1 provisional p.R638Q 1.000 389 0% 440 36.4% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100288141 100288141 genome.wustl.edu 37 9 100069842 100069842 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342930.1 -1 model p.E66 0.000 24 0% 25 24% 0 - - - - NULL C9orf174 100499483 genome.wustl.edu 37 9 100090419 100090419 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020893.1 +1 predicted p.I776 1.000 213 0% 257 30% 0 - - - - NULL C9orf174 100499483 genome.wustl.edu 37 9 100116895 100116895 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020893.1 +1 predicted p.S1031* 0.001 122 0% 136 32.4% 0 - - - - NULL C9orf174 100499483 genome.wustl.edu 37 9 100122285 100122285 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020893.1 +1 predicted p.L1144I 0.003 340 0% 336 32.1% 0 - probably_damaging(0.959) tolerated(0.2) neutral(0.452) NULL C9orf174 100499483 genome.wustl.edu 37 9 100122377 100122377 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020893.1 +1 predicted p.V1174 0.012 185 0% 199 27.1% 0 - - - - NULL TDRD7 23424 genome.wustl.edu 37 9 100232905 100232905 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014290.2 +1 validated p.P565 0.935 143 0% 84 25% 10 30% - - - HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748 NCBP1 4686 genome.wustl.edu 37 9 100403944 100403944 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002486.4 +1 reviewed p.V75A 1.000 265 0% 236 32.6% 2 100% benign(0.021) deleterious(0.04) neutral(0.350) HMMPfam_MIF4G,HMMSmart_MIF4G,superfamily_ARM-type_fold HEMGN 55363 genome.wustl.edu 37 9 100692889 100692889 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018437.3 -1 validated p.K263T 0.012 307 0% 322 30.7% 0 - benign(0.022) tolerated(0.07) neutral(0.320) NULL HEMGN 55363 genome.wustl.edu 37 9 100693016 100693016 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018437.3 -1 validated p.D221Y 0.002 382 0% 350 30.3% 0 - possibly_damaging(0.901) deleterious(0.01) deleterious(0.762) NULL TBC1D2 55357 genome.wustl.edu 37 9 100961855 100961855 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018421.3 -1 validated p.I854 0.936 160 0.6% 126 27% 56 33.9% - - - superfamily_RabGAP_TBC GABBR2 9568 genome.wustl.edu 37 9 101068622 101068622 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005458.7 -1 reviewed p.F670 1.000 35 0% 25 44% 0 - - - - HMMPfam_7tm_3 ANKS6 203286 genome.wustl.edu 37 9 101544803 101544803 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173551.3 -1 provisional p.R389C 1.000 109 0% 82 15.9% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,superfamily_Ankyrin repeat COL15A1 1306 genome.wustl.edu 37 9 101782716 101782716 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001855.3 +1 reviewed p.G565* 0.972 145 0% 148 27% 37 0% - - - NULL TGFBR1 7046 genome.wustl.edu 37 9 101894906 101894906 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004612.2 +1 reviewed p.V153 1.000 323 0% 241 27% 13 30.7% - - - NULL NR4A3 8013 genome.wustl.edu 37 9 102609772 102609772 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173200.1 +1 reviewed p.R514Q 1.000 140 0% 198 23.7% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor INVS 27130 genome.wustl.edu 37 9 102888668 102888668 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014425.2 +1 reviewed p.N37S 0.999 106 0% 105 31.4% 6 33.3% benign(0.016) tolerated(0.31) neutral(0.028) superfamily_Ankyrin repeat INVS 27130 genome.wustl.edu 37 9 103014696 103014696 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014425.2 +1 reviewed p.D404Y 1.000 141 0% 134 11.9% 3 0% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat TEX10 54881 genome.wustl.edu 37 9 103082641 103082641 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017746.3 -1 validated p.R703Q 1.000 93 0% 81 24.7% 46 52.1% probably_damaging(0.988) tolerated(0.25) deleterious(0.474) NULL TEX10 54881 genome.wustl.edu 37 9 103090147 103090147 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017746.3 -1 validated p.D575N 1.000 174 0% 147 32.7% 36 52.7% probably_damaging(0.982) tolerated(0.28) neutral(0.458) NULL MSANTD3 91283 genome.wustl.edu 37 9 103212962 103212962 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080655.1 +1 predicted p.K181T 1.000 155 0% 137 35.8% 25 24% possibly_damaging(0.917) deleterious(0) deleterious(0.812) NULL MURC 347273 genome.wustl.edu 37 9 103340659 103340659 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001018116.1 +1 validated p.S78 0.950 319 0% 225 31.1% 0 - - - - NULL BAAT 570 genome.wustl.edu 37 9 104133259 104133259 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127610.1 -1 reviewed p.R143L 0.000 267 0% 223 31.4% 0 - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_Bile_Hydr_Trans,superfamily_SSF53474 ALDOB 229 genome.wustl.edu 37 9 104193159 104193159 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000035.3 -1 reviewed p.R4Q 0.972 69 0% 50 30% 0 - benign(0) tolerated(0.37) neutral(0.019) superfamily_Aldolase C9orf125 84302 genome.wustl.edu 37 9 104238660 104238660 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032342.1 -1 provisional p.D239Y 0.568 115 0% 133 36.1% 1 0% benign(0.005) tolerated(0.07) neutral(0.319) NULL PPP3R2 5535 genome.wustl.edu 37 9 104356946 104356946 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_147180.2 -1 provisional p.G89 0.000 114 0% 125 28% 0 - - - - superfamily_SSF47473 GRIN3A 116443 genome.wustl.edu 37 9 104432452 104432452 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133445.2 -1 reviewed p.L748I 1.000 144 0% 121 33.1% 0 - probably_damaging(0.971) tolerated(0.14) deleterious(0.662) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 CYLC2 1539 genome.wustl.edu 37 9 105767844 105767844 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001340.3 +1 reviewed p.E311* 0.005 224 0% 199 28.1% 0 - - - - NULL OR13C3 138803 genome.wustl.edu 37 9 107298225 107298225 + Silent SNP C C T rs193038494 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001961.1 -1 provisional p.A290 0.246 286 0% 284 61.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR13C8 138802 genome.wustl.edu 37 9 107331656 107331656 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004483.1 +1 provisional p.D70N 1.000 489 0% 436 31.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR13C8 138802 genome.wustl.edu 37 9 107332410 107332410 + Nonstop_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004483.1 +1 provisional p.*321L 0.004 110 0% 90 30% 0 - - - - NULL OR13D1 286365 genome.wustl.edu 37 9 107456937 107456937 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004484.1 +1 provisional p.I79V 0.002 646 0% 618 31.9% 0 - benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_7tm_1,superfamily_SSF81321 OR13D1 286365 genome.wustl.edu 37 9 107457581 107457581 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004484.1 +1 provisional p.K293 0.978 286 0% 272 30.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 NIPSNAP3B 55335 genome.wustl.edu 37 9 107528664 107528664 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018376.2 +1 provisional p.R40H 1.000 250 0% 222 27% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_NIPSNAP ABCA1 19 genome.wustl.edu 37 9 107618267 107618267 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000423487 -1 known p.E275* 0.001 53 0% 77 33.8% 0 - - - - NULL ABCA1 19 genome.wustl.edu 37 9 107645372 107645372 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005502.2 -1 reviewed p.K123 1.000 259 0% 193 30.6% 1 0% - - - NULL SLC44A1 23446 genome.wustl.edu 37 9 108118629 108118629 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080546.3 +1 validated p.E213* 1.000 273 0% 198 29.3% 18 0% - - - NULL SLC44A1 23446 genome.wustl.edu 37 9 108123525 108123525 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080546.3 +1 validated p.E272* 1.000 245 0% 176 33% 15 0% - - - NULL ZNF462 58499 genome.wustl.edu 37 9 109688088 109688088 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021224.4 +1 validated p.F632C 1.000 934 0% 853 34.6% 0 - possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109688589 109688589 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021224.4 +1 validated p.D799G 1.000 348 0% 354 30.5% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109690918 109690918 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021224.4 +1 validated p.G1575 0.490 67 0% 70 37.1% 2 0% - - - superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24 ZNF462 58499 genome.wustl.edu 37 9 109691077 109691077 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021224.4 +1 validated p.S1628 1.000 128 0% 105 35.2% 1 100% - - - superfamily_beta-sandwich domain of Sec23/24 ACTL7B 10880 genome.wustl.edu 37 9 111617443 111617443 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006686.3 -1 reviewed p.K256N 1.000 31 0% 17 35.3% 0 - possibly_damaging(0.793) deleterious(0) deleterious(0.742) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain CTNNAL1 8727 genome.wustl.edu 37 9 111745572 111745572 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003798.2 -1 provisional p.C251 0.902 126 0% 103 25.2% 34 41.1% - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin EPB41L4B 54566 genome.wustl.edu 37 9 111979387 111979387 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019114.3 -1 validated p.R483Q 1.000 126 0% 146 27.4% 0 - benign(0.424) tolerated(0.12) neutral(0.398) NULL EPB41L4B 54566 genome.wustl.edu 37 9 112018715 112018715 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019114.3 -1 validated p.A266 1.000 291 0% 248 31% 10 10% - - - PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 EPB41L4B 54566 genome.wustl.edu 37 9 112029805 112029805 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019114.3 -1 validated p.R161* 1.000 118 0% 93 24.7% 0 - - - - HMMPfam_FERM_N,HMMSmart_SM00295,superfamily_Ubiquitin-like PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899487 112899487 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007203.4 +1 validated p.S555P 0.999 71 0% 82 40.2% 9 0% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL SVEP1 79987 genome.wustl.edu 37 9 113163182 113163182 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153366.3 -1 validated p.T3258 0.706 86 0% 62 25.8% 7 0% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113169673 113169673 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153366.3 -1 validated p.G2736E 1.000 146 0% 108 29.6% 1 0% probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113221262 113221262 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153366.3 -1 validated p.A1152T 0.000 200 0% 165 27.3% 0 - benign(0) tolerated(0.44) neutral(0.013) HMMPfam_GCC2_GCC3 SVEP1 79987 genome.wustl.edu 37 9 113233752 113233752 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153366.3 -1 validated p.S964A 1.000 152 0% 117 33.3% 0 - possibly_damaging(0.787) tolerated(0.07) deleterious(0.613) NULL SVEP1 79987 genome.wustl.edu 37 9 113312262 113312262 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153366.3 -1 validated p.I218 1.000 170 0% 184 29.3% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like MUSK 4593 genome.wustl.edu 37 9 113530090 113530090 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000189978 +1 known p.S310Y 0.773 340 0% 331 15.7% 0 - unknown(0) deleterious(0.01) - NULL LPAR1 1902 genome.wustl.edu 37 9 113637934 113637934 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001401.3 -1 reviewed p.D288N 0.998 218 0% 128 30.5% 5 0% benign(0) tolerated(0.88) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KIAA0368 23392 genome.wustl.edu 37 9 114134817 114134817 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080398.1 -1 provisional p.E1652* 0.998 235 0% 227 30.8% 27 0% - - - superfamily_ARM repeat PTGR1 22949 genome.wustl.edu 37 9 114332454 114332454 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012212.3 -1 reviewed p.R266C 0.996 76 0% 82 30.5% 63 52.3% benign(0.005) tolerated(0.06) neutral(0.323) HMMPfam_ADH_zinc_N,superfamily_NAD(P)-bd C9orf84 158401 genome.wustl.edu 37 9 114454239 114454239 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173521.3 -1 validated p.K1276Q 0.001 115 0% 107 30.8% 0 - benign(0.076) tolerated(0.48) neutral(0.016) NULL C9orf84 158401 genome.wustl.edu 37 9 114490225 114490225 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173521.3 -1 validated p.E444* 0.847 113 0% 111 31.5% 0 - - - - NULL C9orf84 158401 genome.wustl.edu 37 9 114503818 114503818 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173521.3 -1 validated p.E307A 0.001 70 0% 69 33.3% 0 - benign(0) tolerated(0.25) neutral(0.037) NULL SUSD1 64420 genome.wustl.edu 37 9 114840954 114840954 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000374263 -1 known p.M539I 0.191 354 0% 386 28% 8 0% benign(0.002) tolerated(0.19) neutral(0.050) NULL KIAA1958 158405 genome.wustl.edu 37 9 115408030 115408030 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133465.2 +1 predicted p.T424 0.096 119 0% 128 11.7% 1 0% - - - NULL KIAA1958 158405 genome.wustl.edu 37 9 115421948 115421948 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133465.2 +1 predicted p.E584K 1.000 78 0% 71 31% 2 0% benign(0.271) tolerated(0.27) neutral(0.062) NULL ZNF883 169834 genome.wustl.edu 37 9 115759651 115759651 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001101338.1 -1 validated p.E297K 0.008 292 0.3% 210 28.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BSPRY 54836 genome.wustl.edu 37 9 116122901 116122901 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017688.2 +1 validated p.A139P 1.000 22 0% 23 30.4% 32 40.6% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL AMBP 259 genome.wustl.edu 37 9 116823775 116823775 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001633.3 -1 reviewed p.Y261C 1.000 54 0% 42 21.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kunitz_BPTI,HMMSmart_KU,PatternScan_BPTI_KUNITZ_1,superfamily_Prot_inh_Kunz-m COL27A1 85301 genome.wustl.edu 37 9 117062362 117062362 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032888.2 +1 validated p.E1533K 0.994 66 0% 51 41.2% 1 0% benign(0.085) tolerated(0.54) neutral(0.013) HMMPfam_Collagen ORM1 5004 genome.wustl.edu 37 9 117085972 117085972 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000607.2 +1 reviewed p.S48 0.000 225 0% 166 28.9% 0 - unknown(0) deleterious(0) - HMMPfam_Lipocalin,superfamily_Calycin DFNB31 25861 genome.wustl.edu 37 9 117188502 117188502 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015404.3 -1 reviewed p.A385 0.000 90 0% 85 27.1% 3 33.3% - - - NULL TNC 3371 genome.wustl.edu 37 9 117844122 117844122 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002160.2 -1 validated p.E778A 1.000 146 0% 113 29.2% 44 40.9% possibly_damaging(0.643) deleterious(0.03) deleterious(0.590) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PAPPA 5069 genome.wustl.edu 37 9 118969816 118969816 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002581.3 +1 reviewed p.S520 0.989 263 0% 240 27.1% 0 - - - - superfamily_SSF55486 PAPPA 5069 genome.wustl.edu 37 9 119124901 119124901 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002581.3 +1 reviewed p.K1460Q 1.000 146 0% 155 23.2% 3 0% probably_damaging(0.991) tolerated(0.13) deleterious(0.697) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module,superfamily_SSF55486 TRIM32 22954 genome.wustl.edu 37 9 119461093 119461093 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099679.1 +1 reviewed p.L358I 1.000 190 0% 153 35.9% 10 60% benign(0) tolerated(0.48) neutral(0.011) superfamily_SSF101898 ASTN2 23245 genome.wustl.edu 37 9 119582920 119582920 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198187.3 -1 reviewed p.S728L 1.000 126 0% 111 24.3% 0 - benign(0.003) tolerated(0.87) neutral(0.001) superfamily_EGF/Laminin ASTN2 23245 genome.wustl.edu 37 9 119858410 119858410 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198187.3 -1 reviewed p.A397T 1.000 129 0% 124 30.6% 0 - possibly_damaging(0.906) tolerated(0.58) neutral(0.364) NULL DBC1 1620 genome.wustl.edu 37 9 122011292 122011292 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014618.2 -1 validated p.D119N 1.000 50 0% 30 26.7% 0 - benign(0) tolerated(0.11) neutral(0.272) HMMSmart_SM00457 CDK5RAP2 55755 genome.wustl.edu 37 9 123173697 123173697 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018249.4 -1 reviewed p.E1451D 0.998 180 0% 168 29.2% 21 38% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123182113 123182113 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018249.4 -1 reviewed p.D1377G 0.951 336 0% 295 34.6% 17 41.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PSMD5 5711 genome.wustl.edu 37 9 123583117 123583117 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005047.2 -1 reviewed p.T419 0.929 145 0% 139 27.3% 2 0% - - - superfamily_ARM-type_fold,HMMPfam_Proteasom_PSMB PSMD5 5711 genome.wustl.edu 37 9 123586959 123586959 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005047.2 -1 reviewed p.F273 1.000 178 0% 176 35.2% 1 0% - - - superfamily_ARM-type_fold,HMMPfam_Proteasom_PSMB TRAF1 7185 genome.wustl.edu 37 9 123671571 123671571 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005658.3 -1 reviewed p.S323 0.000 143 0% 172 32.6% 3 0% - - - HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like TRAF1 7185 genome.wustl.edu 37 9 123675645 123675645 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005658.3 -1 reviewed p.S222 0.869 27 0% 36 33.3% 1 0% - - - NULL C5 727 genome.wustl.edu 37 9 123768207 123768207 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001735.2 -1 reviewed p.S851Y 0.029 152 0% 124 27.4% 0 - possibly_damaging(0.596) deleterious(0.03) deleterious(0.571) HMMPfam_A2M C5 727 genome.wustl.edu 37 9 123770737 123770737 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001735.2 -1 reviewed p.R766Q 1.000 176 0% 181 24.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C5 727 genome.wustl.edu 37 9 123780021 123780021 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001735.2 -1 reviewed p.R539Q 0.983 39 0% 37 18.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_A2M_N_2 C5 727 genome.wustl.edu 37 9 123808638 123808638 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001735.2 -1 reviewed p.I30T 0.986 109 0% 95 25.3% 0 - benign(0.01) deleterious(0.01) neutral(0.406) HMMPfam_A2M_N CNTRL 11064 genome.wustl.edu 37 9 123907525 123907525 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007018.4 +1 reviewed p.R1058* 0.567 233 0% 226 28.3% 0 - - - - NULL CNTRL 11064 genome.wustl.edu 37 9 123922535 123922535 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007018.4 +1 reviewed p.E1682* 1.000 247 0.4% 201 31.3% 0 - - - - NULL DAB2IP 153090 genome.wustl.edu 37 9 124543794 124543794 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032552.2 +1 validated p.A1094 0.793 161 0% 111 25.2% 10 60% - - - NULL RBM18 92400 genome.wustl.edu 37 9 125014229 125014229 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033117.3 -1 validated p.Q46R 1.000 121 0% 163 35% 15 46.6% benign(0.028) tolerated(0.12) neutral(0.262) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PTGS1 5742 genome.wustl.edu 37 9 125148813 125148813 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000962.2 +1 reviewed p.F366 0.001 237 0% 215 36.7% 4 50% - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases OR1J1 347168 genome.wustl.edu 37 9 125239957 125239957 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004451.1 -1 provisional p.M83I 0.000 242 0% 282 34.4% 0 - benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L3 26735 genome.wustl.edu 37 9 125438136 125438136 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005234.1 +1 provisional p.S243F 0.955 372 0% 328 34.8% 0 - possibly_damaging(0.523) deleterious(0.01) deleterious(0.582) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZBTB26 57684 genome.wustl.edu 37 9 125681427 125681427 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020924.2 -1 provisional p.R263* 1.000 237 0% 196 33.2% 3 0% - - - NULL ZBTB26 57684 genome.wustl.edu 37 9 125681980 125681980 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020924.2 -1 provisional p.S78 0.884 175 0% 147 35.4% 2 0% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB RABGAP1 23637 genome.wustl.edu 37 9 125782658 125782658 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012197.3 +1 validated p.R572* 0.997 123 0% 86 41.9% 4 0% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p STRBP 55342 genome.wustl.edu 37 9 125901897 125901897 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018387.4 -1 validated p.S470A 1.000 116 0% 72 22.2% 50 54% possibly_damaging(0.866) tolerated(0.21) neutral(0.380) NULL CRB2 286204 genome.wustl.edu 37 9 126125431 126125431 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173689.5 +1 validated p.D128N 1.000 10 0% 13 46.2% 0 - probably_damaging(0.999) tolerated(0.23) deleterious(0.532) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin MIR601 693186 genome.wustl.edu 37 9 126164872 126164872 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000385256 -1 known NULL 0.015 68 0% 45 13.3% 0 - - - - - LHX2 9355 genome.wustl.edu 37 9 126783453 126783453 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004789.3 +1 reviewed p.R268H 1.000 65 0% 60 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like SCAI 286205 genome.wustl.edu 37 9 127762230 127762230 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173690.4 -1 reviewed p.R418Q 1.000 339 0% 260 25.4% 4 50% probably_damaging(0.991) tolerated(0.12) deleterious(0.705) NULL SCAI 286205 genome.wustl.edu 37 9 127818262 127818262 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173690.4 -1 reviewed p.I64 1.000 109 0% 83 34.9% 10 50% - - - NULL RABEPK 10244 genome.wustl.edu 37 9 127996207 127996207 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005833.3 +1 validated p.M356T 1.000 279 0% 255 35.7% 33 30.3% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL GAPVD1 26130 genome.wustl.edu 37 9 128065089 128065089 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015635.2 +1 validated p.R338Q 1.000 229 0% 202 28.7% 2 100% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_RasGAP,superfamily_Rho_GAP GAPVD1 26130 genome.wustl.edu 37 9 128070148 128070148 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015635.2 +1 validated p.R477Q 1.000 298 0% 212 36.8% 2 100% probably_damaging(0.999) tolerated(0.52) deleterious(0.499) NULL GAPVD1 26130 genome.wustl.edu 37 9 128097514 128097514 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015635.2 +1 validated p.R831I 0.843 110 0% 86 48.8% 0 - possibly_damaging(0.903) deleterious(0.03) deleterious(0.722) NULL GAPVD1 26130 genome.wustl.edu 37 9 128116964 128116964 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015635.2 +1 validated p.R1228C 0.996 270 0% 182 29.7% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZBTB43 23099 genome.wustl.edu 37 9 129594921 129594921 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135776.1 +1 validated p.R45W 1.000 96 0% 113 29.2% 2 100% possibly_damaging(0.693) deleterious(0) deleterious(0.693) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB ZBTB34 403341 genome.wustl.edu 37 9 129643069 129643069 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099270.1 +1 validated p.R460H 1.000 38 0% 52 28.8% 0 - benign(0.016) tolerated(0.16) neutral(0.060) NULL GARNL3 84253 genome.wustl.edu 37 9 130075763 130075763 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032293.4 +1 validated p.F121L 1.000 243 0% 199 34.7% 1 100% possibly_damaging(0.942) tolerated(0.2) neutral(0.436) superfamily_Rap/Ran-GAP (Pfam 02145) ZNF79 7633 genome.wustl.edu 37 9 130207398 130207398 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007135.2 +1 validated p.Y473 0.000 355 0% 375 30.9% 4 0% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 STXBP1 6812 genome.wustl.edu 37 9 130453079 130453079 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001032221.3 +1 reviewed p.Q576H 1.000 427 0% 413 30% 0 - benign(0.02) tolerated(0.07) neutral(0.320) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins SLC25A25 114789 genome.wustl.edu 37 9 130868667 130868667 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000466983 +1 known p.P52S 0.983 27 0% 25 16% 5 20% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SWI5 375757 genome.wustl.edu 37 9 131046827 131046827 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000418976 +1 known p.R83* 0.001 70 0% 92 25% 35 22.8% - - - HMMPfam_Swi5 URM1 81605 genome.wustl.edu 37 9 131140323 131140323 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135947.1 +1 validated p.A15V 0.793 61 1.6% 58 31% 68 29.4% benign(0.236) tolerated(0.66) neutral(0.026) HMMPfam_Urm1 SPTAN1 6709 genome.wustl.edu 37 9 131394971 131394971 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130438.1 +1 validated p.A2378 0.875 60 0% 45 35.6% 231 33.3% - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 WDR34 89891 genome.wustl.edu 37 9 131396588 131396588 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052844.3 -1 validated p.S430L 0.991 55 0% 32 18.8% 319 43.2% possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) HMMSmart_WD40,superfamily_WD40_like SET 6418 genome.wustl.edu 37 9 131453458 131453458 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122821.1 +1 validated p.Q41P 1.000 51 0% 48 18.8% 242 39.6% possibly_damaging(0.872) tolerated(0.18) neutral(0.395) NULL ZER1 10444 genome.wustl.edu 37 9 131514964 131514964 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006336.2 -1 provisional p.A304V 0.838 34 0% 41 41.5% 27 33.3% benign(0) tolerated(0.24) neutral(0.037) NULL TBC1D13 54662 genome.wustl.edu 37 9 131565687 131565687 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018201.3 +1 validated p.I234 1.000 76 0% 77 27.3% 12 8.3% - - - HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC NUP188 23511 genome.wustl.edu 37 9 131719234 131719234 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015354.1 +1 validated p.L84I 1.000 134 0% 163 35% 3 33.3% probably_damaging(0.997) tolerated(0.08) deleterious(0.766) HMMPfam_Nup188 ASB6 140459 genome.wustl.edu 37 9 132400297 132400297 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017873.2 -1 reviewed p.F346 0.932 79 0% 54 33.3% 18 38.8% - - - NULL TOR1B 27348 genome.wustl.edu 37 9 132566493 132566493 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014506.1 +1 provisional p.G114D 1.000 107 0% 68 30.9% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_Torsin,superfamily_SSF52540 QRFP 347148 genome.wustl.edu 37 9 133769001 133769001 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198180.1 -1 validated p.Q75 0.724 41 0% 31 51.6% 0 - - - - NULL FIBCD1 84929 genome.wustl.edu 37 9 133780752 133780752 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145106.1 -1 validated p.H332R 1.000 10 0% 14 50% 0 - benign(0) tolerated(1) - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like LAMC3 10319 genome.wustl.edu 37 9 133914592 133914592 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006059.3 +1 reviewed p.R414C 0.994 35 0% 21 38.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_SSF57196 LAMC3 10319 genome.wustl.edu 37 9 133932493 133932493 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006059.3 +1 reviewed p.P706H 1.000 87 0% 67 34.3% 7 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) PatternScan_EGF_LAM_1 NUP214 8021 genome.wustl.edu 37 9 134049454 134049454 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005085.2 +1 reviewed p.R969Q 1.000 204 0% 199 35.7% 7 0% possibly_damaging(0.943) tolerated(0.38) neutral(0.405) NULL NUP214 8021 genome.wustl.edu 37 9 134073647 134073647 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005085.2 +1 reviewed p.S1589F 0.014 121 0% 129 16.3% 19 21% possibly_damaging(0.805) deleterious(0.01) deleterious(0.709) NULL NUP214 8021 genome.wustl.edu 37 9 134106040 134106040 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005085.2 +1 reviewed p.T2033I 0.871 78 0% 51 27.5% 29 79.3% possibly_damaging(0.911) tolerated(0.09) deleterious(0.659) NULL PRRC2B 84726 genome.wustl.edu 37 9 134346274 134346274 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013318.3 +1 validated p.D671N 1.000 53 0% 44 36.4% 14 42.8% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL PRRC2B 84726 genome.wustl.edu 37 9 134357806 134357806 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013318.3 +1 validated p.E1678K 1.000 284 0% 148 25.7% 16 56.2% probably_damaging(0.959) tolerated(0.17) neutral(0.462) NULL SETX 23064 genome.wustl.edu 37 9 135150788 135150788 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015046.5 -1 reviewed p.E2319* 1.000 205 0% 198 29.3% 9 11.1% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SETX 23064 genome.wustl.edu 37 9 135204702 135204702 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015046.5 -1 reviewed p.S761 0.031 541 0% 417 34.5% 2 0% - - - NULL SETX 23064 genome.wustl.edu 37 9 135205315 135205315 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015046.5 -1 reviewed p.R557L 0.946 314 0% 259 34.7% 0 - possibly_damaging(0.809) deleterious(0) deleterious(0.749) NULL TTF1 7270 genome.wustl.edu 37 9 135266069 135266069 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007344.2 -1 validated p.R713W 0.998 412 0% 291 22% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SANT GTF3C4 9329 genome.wustl.edu 37 9 135553528 135553528 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012204.2 +1 validated p.C174 0.970 112 0% 94 34% 2 0% - - - NULL GFI1B 8328 genome.wustl.edu 37 9 135864540 135864540 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004188.4 +1 validated p.F201 0.991 82 0% 55 18.2% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RALGDS 5900 genome.wustl.edu 37 9 135983476 135983476 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006266.2 -1 validated p.P366S 0.990 25 0% 16 43.8% 18 50% benign(0.227) tolerated(1) neutral(0.022) superfamily_Ras GEF RALGDS 5900 genome.wustl.edu 37 9 135983499 135983499 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006266.2 -1 validated p.V358A 0.000 28 0% 15 33.3% 19 47.3% benign(0.005) tolerated(0.35) neutral(0.021) superfamily_Ras GEF RPL7A 6130 genome.wustl.edu 37 9 136217157 136217157 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000972.2 +1 reviewed p.D160N 1.000 23 0% 26 30.8% 2653 40.2% possibly_damaging(0.814) tolerated(0.07) deleterious(0.627) HMMPfam_Ribosomal_L7Ae,superfamily_L30e-like C9orf96 169436 genome.wustl.edu 37 9 136259426 136259426 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153710.3 +1 validated p.R198C 0.000 41 0% 26 38.5% 0 - benign(0.001) tolerated(0.06) neutral(0.323) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) REXO4 57109 genome.wustl.edu 37 9 136278001 136278001 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020385.2 -1 validated p.E205K 1.000 32 0% 40 35% 11 27.2% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL VAV2 7410 genome.wustl.edu 37 9 136804238 136804238 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134398.1 -1 reviewed p.R103Q 1.000 103 0% 104 31.7% 12 50% probably_damaging(0.984) tolerated(0.42) neutral(0.445) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain KCNT1 57582 genome.wustl.edu 37 9 138649176 138649176 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020822.2 +1 validated p.I236 1.000 35 0% 27 37% 0 - - - - superfamily_SSF81324 MAN1B1 11253 genome.wustl.edu 37 9 140002967 140002967 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016219.3 +1 validated p.D675G 0.427 113 0% 47 21.3% 119 41.1% possibly_damaging(0.511) deleterious(0.02) deleterious(0.554) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 NDOR1 27158 genome.wustl.edu 37 9 140106982 140106982 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144026.1 +1 reviewed p.N81S 1.000 47 0% 77 29.9% 6 33.3% benign(0) tolerated(1) - HMMPfam_Flavodoxin_1,superfamily_SSF52218 EHMT1 79813 genome.wustl.edu 37 9 140693268 140693268 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000460843 +1 known p.A837T 1.000 128 0% 130 30.8% 22 31.8% benign(0.019) tolerated(0.32) neutral(0.025) HMMPfam_Ank,superfamily_Ankyrin repeat CACNA1B 774 genome.wustl.edu 37 9 141012422 141012422 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000718.2 +1 validated p.K1934N 1.000 24 0% 14 35.7% 0 - benign(0.218) deleterious(0.04) neutral(0.370) NULL DIP2C 22982 genome.wustl.edu 37 10 461747 461747 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014974.2 -1 reviewed p.R274Q 0.999 436 0.5% 377 22.3% 2 0% possibly_damaging(0.883) tolerated(0.28) neutral(0.376) NULL WDR37 22884 genome.wustl.edu 37 10 1149581 1149581 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014023.3 +1 reviewed p.E256K 1.000 116 0.9% 95 32.6% 6 33.3% benign(0.167) tolerated(0.78) neutral(0.016) superfamily_WD40_like WDR37 22884 genome.wustl.edu 37 10 1170271 1170271 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014023.3 +1 reviewed p.R406H 1.000 100 0% 82 32.9% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like AKR1E2 83592 genome.wustl.edu 37 10 4875595 4875595 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040177.1 +1 provisional p.S87R 0.173 120 0% 128 11.7% 3 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase AKR1C4 1109 genome.wustl.edu 37 10 5258755 5258755 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001818.2 +1 reviewed p.F310V 0.003 42 0% 28 35.7% 0 - benign(0) tolerated(0.54) neutral(0.007) superfamily_NAD(P)-linked oxidoreductase GDI2 2665 genome.wustl.edu 37 10 5827952 5827952 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001494.3 -1 reviewed p.F150 0.629 328 0.3% 292 26.4% 237 39.6% - - - HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain ANKRD16 54522 genome.wustl.edu 37 10 5926004 5926004 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009941.2 -1 validated p.G205 0.920 72 0% 61 29.5% 6 33.3% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FBXO18 84893 genome.wustl.edu 37 10 5937150 5937150 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032807.3 +1 reviewed p.M52L 0.000 41 0% 38 18.4% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL PRKCQ 5588 genome.wustl.edu 37 10 6525477 6525477 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000397178 -1 known p.D141G 0.002 275 0.7% 228 32.9% 0 - - - - superfamily_Protein kinase-like (PK-like) SFMBT2 57713 genome.wustl.edu 37 10 7214496 7214496 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029880.1 -1 provisional p.R704 1.000 29 0% 32 56.2% 0 - - - - NULL SFMBT2 57713 genome.wustl.edu 37 10 7218021 7218021 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029880.1 -1 provisional p.L639 0.570 189 0% 153 30.1% 0 - - - - NULL SFMBT2 57713 genome.wustl.edu 37 10 7269821 7269821 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029880.1 -1 provisional p.R400Q 1.000 125 0% 127 29.1% 1 0% probably_damaging(0.988) tolerated(0.37) neutral(0.457) HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT SFMBT2 57713 genome.wustl.edu 37 10 7409762 7409762 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029880.1 -1 provisional p.T95 0.999 37 0% 52 36.5% 0 - - - - HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT SFMBT2 57713 genome.wustl.edu 37 10 7423773 7423773 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029880.1 -1 provisional p.D30Y 0.015 124 0% 103 31.1% 0 - possibly_damaging(0.46) deleterious(0.04) deleterious(0.500) NULL ITIH5 80760 genome.wustl.edu 37 10 7618968 7618968 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030569.5 -1 validated p.D476N 1.000 84 0% 55 20% 95 53.6% benign(0.395) deleterious(0.01) deleterious(0.532) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ITIH2 3698 genome.wustl.edu 37 10 7751048 7751048 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002216.2 +1 validated p.A86T 1.000 230 0% 253 33.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_VIT,HMMPfam_VIT ITIH2 3698 genome.wustl.edu 37 10 7771917 7771917 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002216.2 +1 validated p.E428K 1.000 160 0% 168 31.5% 0 - possibly_damaging(0.773) deleterious(0.03) deleterious(0.652) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 KIN 22944 genome.wustl.edu 37 10 7801942 7801942 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012311.2 -1 reviewed p.L344I 0.970 94 0% 62 14.5% 9 11.1% benign(0.034) tolerated(0.29) neutral(0.031) NULL USP6NL 9712 genome.wustl.edu 37 10 11504658 11504658 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080491.2 -1 validated p.S774G 0.000 138 0% 129 30.2% 8 50% benign(0.032) tolerated(0.07) neutral(0.321) NULL UPF2 26019 genome.wustl.edu 37 10 12070817 12070817 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015542.2 -1 reviewed p.E358* 1.000 178 0% 158 36.1% 3 0% - - - HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat DHTKD1 55526 genome.wustl.edu 37 10 12126729 12126729 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018706.5 +1 validated p.S167 0.002 296 0% 306 30.4% 2 0% - - - superfamily_Thiamin diphosphate-binding fold (THDP-binding) OPTN 10133 genome.wustl.edu 37 10 13152325 13152325 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008211.1 +1 reviewed p.S73L 0.995 63 0% 65 27.7% 18 0% probably_damaging(0.996) tolerated(0.3) deleterious(0.490) NULL OPTN 10133 genome.wustl.edu 37 10 13166106 13166106 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008211.1 +1 reviewed p.E332* 1.000 66 0% 66 24.2% 14 0% - - - NULL FRMD4A 55691 genome.wustl.edu 37 10 13708240 13708240 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018027.3 -1 validated p.N487T 1.000 90 0% 88 22.7% 0 - benign(0.051) tolerated(0.19) neutral(0.053) NULL FRMD4A 55691 genome.wustl.edu 37 10 13900896 13900896 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018027.3 -1 validated p.R21Q 1.000 471 0% 462 16.2% 0 - probably_damaging(0.994) tolerated(0.27) deleterious(0.486) HMMSmart_B41,superfamily_SSF54236 FAM107B 83641 genome.wustl.edu 37 10 14563916 14563916 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031453.2 -1 predicted p.K252N 0.999 506 0% 374 31.3% 20 40% benign(0.399) tolerated(0.07) neutral(0.448) HMMPfam_DUF1151 CDNF 441549 genome.wustl.edu 37 10 14870149 14870149 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029954.2 -1 validated p.R80C 1.000 181 0% 196 35.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Armet SUV39H2 79723 genome.wustl.edu 37 10 14943176 14943176 + Silent SNP C C T rs61730323 byCluster;byFrequency;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000358298 +1 known p.S113L 0.368 174 0% 98 22.4% 12 25% - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain DCLRE1C 64421 genome.wustl.edu 37 10 14976391 14976391 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033855.1 -1 reviewed p.E222D 0.956 501 0% 541 25.3% 1 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL OLAH 55301 genome.wustl.edu 37 10 15091764 15091764 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018324.2 +1 validated p.E55* 1.000 85 0% 80 38.8% 0 - - - - NULL OLAH 55301 genome.wustl.edu 37 10 15107753 15107753 + Splice_Site SNP G G A rs141945357 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018324.2 +1 validated e6+1 0.986 107 0% 104 17.3% 0 - - - - - ACBD7 414149 genome.wustl.edu 37 10 15120752 15120752 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039844.2 -1 validated p.A44V 0.863 105 0% 124 32.3% 0 - benign(0.148) tolerated(0.09) neutral(0.309) HMMPfam_ACBP,superfamily_Acyl-CoA binding protein FAM171A1 221061 genome.wustl.edu 37 10 15256175 15256175 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010924.1 -1 validated p.S471Y 0.158 117 0% 95 35.8% 12 50% possibly_damaging(0.87) deleterious(0) deleterious(0.782) HMMPfam_UPF0560 CUBN 8029 genome.wustl.edu 37 10 16877048 16877048 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081.3 -1 reviewed p.E3443K 1.000 305 0% 262 32.1% 4 0% probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16948342 16948342 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081.3 -1 reviewed p.R2591K 0.044 116 0% 110 30% 0 - benign(0) tolerated(0.93) - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16981002 16981002 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081.3 -1 reviewed p.D1898G 1.000 190 0% 150 26% 0 - probably_damaging(0.996) tolerated(0.37) deleterious(0.481) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16981021 16981021 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081.3 -1 reviewed p.G1892S 0.861 195 0% 153 34% 0 - possibly_damaging(0.767) tolerated(0.1) deleterious(0.571) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17087053 17087053 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081.3 -1 reviewed p.D1209Y 0.790 185 0% 122 23% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17110681 17110681 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081.3 -1 reviewed p.F905C 0.503 393 0.3% 335 34.9% 0 - benign(0.11) tolerated(0.17) neutral(0.068) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17113967 17113967 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081.3 -1 reviewed p.R769* 1.000 109 0.9% 99 27.3% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TRDMT1 1787 genome.wustl.edu 37 10 17199528 17199528 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004412.5 -1 reviewed p.L267I 0.913 126 0% 75 28% 7 71.4% possibly_damaging(0.455) tolerated(0.15) neutral(0.390) superfamily_S-adenosyl-L-methionine-dependent methyltransferases VIM 7431 genome.wustl.edu 37 10 17271740 17271740 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003380.3 +1 reviewed p.L107 1.000 6 0.000 7 0.571 2097 25.2% - - - HMMPfam_Filament VIM 7431 genome.wustl.edu 37 10 17275817 17275817 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003380.3 +1 reviewed p.D257N 1.000 68 0% 130 12.3% 2506 30.8% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Filament ST8SIA6 338596 genome.wustl.edu 37 10 17363045 17363045 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004470.1 -1 validated p.F343 0.996 392 0% 292 15.8% 0 - - - - HMMPfam_Glyco_transf_29 PTPLA 9200 genome.wustl.edu 37 10 17636374 17636374 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014241.3 -1 reviewed p.F205C 1.000 123 0% 112 34.8% 6 16.6% possibly_damaging(0.686) deleterious(0.01) deleterious(0.651) HMMPfam_PTPLA MRC1 4360 genome.wustl.edu 37 10 17898264 17898264 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009567.1 +1 reviewed p.A474T 1.000 29 0% 25 24% 0 - possibly_damaging(0.729) tolerated(0.44) neutral(0.278) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 MRC1 4360 genome.wustl.edu 37 10 17908714 17908714 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009567.1 +1 reviewed p.E643K 0.040 180 0% 156 32.7% 0 - benign(0.001) tolerated(0.84) neutral(0.001) NULL SLC39A12 221074 genome.wustl.edu 37 10 18266889 18266889 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145195.1 +1 validated p.K270N 0.004 330 0% 294 33.3% 0 - benign(0.143) tolerated(0.51) neutral(0.021) NULL SLC39A12 221074 genome.wustl.edu 37 10 18270270 18270270 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145195.1 +1 validated p.E318D 1.000 102 0% 112 25.9% 0 - benign(0.002) tolerated(0.63) neutral(0.004) NULL CACNB2 783 genome.wustl.edu 37 10 18789794 18789794 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201596.2 +1 reviewed p.I170 1.000 161 0% 143 55.9% 0 - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain NEBL 10529 genome.wustl.edu 37 10 21157633 21157633 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006393.2 -1 reviewed p.D215A 1.000 347 0% 265 33.6% 0 - probably_damaging(0.968) deleterious(0.01) deleterious(0.816) HMMPfam_Nebulin,HMMSmart_SM00227 C10orf114 399726 genome.wustl.edu 37 10 21784594 21784594 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010911.2 -1 validated p.T116A 0.000 66 0% 43 18.6% 0 - benign(0.035) - - NULL C10orf140 387640 genome.wustl.edu 37 10 21804038 21804038 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207371.3 -1 validated p.K905T 1.000 26 0% 26 34.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL C10orf140 387640 genome.wustl.edu 37 10 21804799 21804799 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207371.3 -1 validated p.S651 0.000 67 0% 86 25.6% 0 - - - - NULL DNAJC1 64215 genome.wustl.edu 37 10 22171227 22171227 + Missense_Mutation SNP C C A rs191455803 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022365.3 -1 provisional p.R321L 0.978 223 0% 147 29.9% 47 48.9% possibly_damaging(0.652) tolerated(0.08) deleterious(0.529) NULL SPAG6 9576 genome.wustl.edu 37 10 22657587 22657587 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012443.2 +1 reviewed p.Y151C 1.000 81 0% 57 22.8% 0 - benign(0.009) tolerated(0.16) neutral(0.060) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ARMC3 219681 genome.wustl.edu 37 10 23295876 23295876 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173081.3 +1 validated p.R599W 0.612 325 0% 254 23.6% 18 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTF1A 256297 genome.wustl.edu 37 10 23482821 23482821 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178161.2 +1 reviewed p.E325K 1.000 179 0% 132 37.1% 0 - benign(0.261) deleterious(0) deleterious(0.472) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24874495 24874495 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020824.3 -1 validated p.E1575K 0.998 251 0% 270 31.5% 18 38.8% benign(0.063) tolerated(0.16) neutral(0.064) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24909027 24909027 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020824.3 -1 validated p.F599L 0.137 363 0% 353 35.4% 4 0% benign(0) tolerated(1) - NULL ARHGAP21 57584 genome.wustl.edu 37 10 24909344 24909344 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020824.3 -1 validated p.R494C 0.994 336 0.3% 297 30.6% 5 60% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24909834 24909834 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020824.3 -1 validated p.I330M 0.942 248 0% 210 28.1% 3 0% benign(0.083) tolerated(0.23) neutral(0.048) NULL PRTFDC1 56952 genome.wustl.edu 37 10 25144270 25144270 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020200.5 -1 provisional p.R177K 0.314 253 0% 232 36.6% 3 0% benign(0.019) tolerated(0.51) neutral(0.010) superfamily_PRTase-like PRTFDC1 56952 genome.wustl.edu 37 10 25226197 25226197 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020200.5 -1 provisional p.L85 0.474 193 0% 128 36.7% 0 - - - - HMMPfam_Pribosyltran,superfamily_PRTase-like THNSL1 79896 genome.wustl.edu 37 10 25313873 25313873 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024838.4 +1 validated p.R574Q 1.000 200 0% 209 28.2% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes THNSL1 79896 genome.wustl.edu 37 10 25314275 25314275 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024838.4 +1 validated p.L708S 0.994 242 0% 191 25.7% 7 28.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes GPR158 57512 genome.wustl.edu 37 10 25464806 25464806 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020752.2 +1 validated p.D153N 1.000 30 0% 23 43.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR158 57512 genome.wustl.edu 37 10 25877944 25877944 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020752.2 +1 validated p.L588V 0.996 118 0% 112 29.5% 0 - possibly_damaging(0.868) tolerated(0.06) deleterious(0.659) HMMPfam_7tm_3 GPR158 57512 genome.wustl.edu 37 10 25888112 25888112 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020752.2 +1 validated p.R1186I 0.931 141 0% 98 27.6% 0 - possibly_damaging(0.462) deleterious(0) deleterious(0.596) NULL MYO3A 53904 genome.wustl.edu 37 10 26414479 26414479 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017433.4 +1 reviewed p.L686I 1.000 241 0% 209 25.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26432476 26432476 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017433.4 +1 reviewed p.S788P 0.996 118 0% 110 32.7% 0 - probably_damaging(0.971) deleterious(0.03) deleterious(0.777) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26463050 26463050 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017433.4 +1 reviewed p.E1286G 0.712 215 0% 135 21.5% 0 - benign(0) deleterious(0.01) neutral(0.406) superfamily_SSF52540 GAD2 2572 genome.wustl.edu 37 10 26581465 26581465 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000818.2 +1 reviewed p.K486N 1.000 187 0% 157 28% 0 - benign(0.179) deleterious(0.01) neutral(0.422) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases APBB1IP 54518 genome.wustl.edu 37 10 26800763 26800763 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019043.3 +1 validated p.L207I 1.000 126 0.8% 91 36.3% 5 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_RA,HMMSmart_RA APBB1IP 54518 genome.wustl.edu 37 10 26822374 26822374 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019043.3 +1 validated p.Y274H 1.000 43 0% 35 42.9% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ABI1 10006 genome.wustl.edu 37 10 27066126 27066126 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005470.3 -1 validated p.G110 0.998 185 0% 151 30.5% 26 53.8% - - - HMMPfam_Abi_HHR ANKRD26 22852 genome.wustl.edu 37 10 27324528 27324528 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014915.2 -1 validated p.E951* 0.998 234 0.4% 160 35.6% 2 0% - - - NULL ANKRD26 22852 genome.wustl.edu 37 10 27389017 27389017 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014915.2 -1 validated p.N80S 0.529 41 0% 43 32.6% 0 - benign(0.005) tolerated(0.12) neutral(0.261) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK YME1L1 10730 genome.wustl.edu 37 10 27412525 27412525 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139312.1 -1 reviewed p.F408L 1.000 352 0% 304 28% 43 32.5% possibly_damaging(0.896) deleterious(0) deleterious(0.798) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases YME1L1 10730 genome.wustl.edu 37 10 27415657 27415657 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139312.1 -1 reviewed p.K363T 1.000 86 0% 72 22.2% 49 46.9% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_P-loop containing nucleoside triphosphate hydrolases YME1L1 10730 genome.wustl.edu 37 10 27425211 27425211 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139312.1 -1 reviewed p.F235 0.909 131 0% 131 29.8% 40 37.5% - - - NULL MASTL 84930 genome.wustl.edu 37 10 27454096 27454096 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032844.3 +1 reviewed p.G219 1.000 78 0% 60 33.3% 5 40% - - - superfamily_Kinase_like MASTL 84930 genome.wustl.edu 37 10 27458959 27458959 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032844.3 +1 reviewed p.T357 0.000 182 0% 164 31.1% 2 0% - - - superfamily_Kinase_like MASTL 84930 genome.wustl.edu 37 10 27462069 27462069 + Missense_Mutation SNP C C T rs181913798 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032844.3 +1 reviewed p.S715L 0.841 346 0% 360 28.3% 18 0% benign(0.028) tolerated(0.45) neutral(0.013) superfamily_Kinase_like ACBD5 91452 genome.wustl.edu 37 10 27486317 27486317 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_024150.1 -1 validated NULL 0.996 70 0% 59 30.5% 10 50% - - - - LOC100288039 100288039 genome.wustl.edu 37 10 27551951 27551951 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002342965.1 +1 model p.T9 0.087 46 0% 61 34.4% 0 - - - - NULL PTCHD3 374308 genome.wustl.edu 37 10 27702265 27702265 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001034842.3 -1 validated p.I305 0.000 110 0.9% 94 31.9% 0 - - - - HMMPfam_Patched RAB18 22931 genome.wustl.edu 37 10 27822881 27822881 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021252.3 +1 provisional p.E135* 1.000 266 0% 232 32.8% 40 0% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases MKX 283078 genome.wustl.edu 37 10 28023450 28023450 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173576.2 -1 validated p.E258G 1.000 206 0% 181 29.8% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL MKX 283078 genome.wustl.edu 37 10 28023559 28023559 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173576.2 -1 validated p.L222V 1.000 181 0% 129 31% 0 - possibly_damaging(0.936) deleterious(0) deleterious(0.826) NULL WAC 51322 genome.wustl.edu 37 10 28884882 28884882 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016628.3 +1 reviewed p.K277N 1.000 283 0% 275 29.1% 40 35% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL SVIL 6840 genome.wustl.edu 37 10 29782172 29782172 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021738.2 -1 reviewed p.F1330 0.999 35 0% 43 25.6% 15 13.3% - - - NULL MTPAP 55149 genome.wustl.edu 37 10 30602741 30602741 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018109.3 -1 validated p.R516* 0.000 254 0% 254 26% 17 35.2% - - - superfamily_PAP/OAS1 substrate-binding domain ENSG00000234814 0 genome.wustl.edu 37 10 30986443 30986443 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000435645 +1 known NULL 0.996 42 0% 35 14.3% 0 - - - - - LOC645954 645954 genome.wustl.edu 37 10 31001565 31001565 + RNA SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_017086.3 +1 model NULL 1.000 64 0% 77 16.9% 0 - - - - - LOC645954 645954 genome.wustl.edu 37 10 31005969 31005969 + RNA SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_017086.3 +1 model NULL 0.823 61 0% 87 19.5% 12 0% - - - - ZNF438 220929 genome.wustl.edu 37 10 31138480 31138480 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143766.1 -1 validated p.S285Y 0.639 258 0% 206 30.6% 0 - possibly_damaging(0.91) deleterious(0.01) deleterious(0.768) NULL ZEB1 6935 genome.wustl.edu 37 10 31809685 31809685 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030751.5 +1 reviewed p.I474 1.000 300 0% 216 31.5% 1 0% - - - NULL ZEB1 6935 genome.wustl.edu 37 10 31810044 31810044 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030751.5 +1 reviewed p.S594Y 1.000 267 0% 190 27.9% 11 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_HOX ZEB1 6935 genome.wustl.edu 37 10 31812973 31812973 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030751.5 +1 reviewed p.A905D 1.000 163 0% 160 40% 1 0% benign(0.405) deleterious(0) deleterious(0.575) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZEB1 6935 genome.wustl.edu 37 10 31815926 31815926 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030751.5 +1 reviewed p.E1037* 1.000 105 0% 108 33.3% 6 0% - - - NULL ARHGAP12 94134 genome.wustl.edu 37 10 32097936 32097936 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018287.5 -1 provisional p.F750C 1.000 69 0% 71 39.4% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP KIF5B 3799 genome.wustl.edu 37 10 32317364 32317364 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004521.2 -1 validated p.D573Y 1.000 199 0% 149 24.8% 19 21% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) NULL ITGB1 3688 genome.wustl.edu 37 10 33208968 33208968 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033667.2 -1 reviewed p.K438N 0.999 462 0% 361 23.5% 252 28.5% benign(0.001) tolerated(0.42) neutral(0.014) HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF69179 NRP1 8829 genome.wustl.edu 37 10 33475280 33475280 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003873.5 -1 validated p.V733 0.933 116 0% 125 25.6% 34 38.2% - - - HMMPfam_MAM,HMMSmart_SM00137 NRP1 8829 genome.wustl.edu 37 10 33481266 33481266 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003873.5 -1 validated p.V669M 0.990 404 0% 382 26.4% 36 16.6% benign(0) tolerated(0.07) neutral(0.319) HMMPfam_MAM,HMMSmart_SM00137 NRP1 8829 genome.wustl.edu 37 10 33559651 33559651 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003873.5 -1 validated p.E128K 1.000 113 0% 116 38.8% 11 45.4% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PARD3 56288 genome.wustl.edu 37 10 34558723 34558723 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019619.3 -1 validated p.M1097T 0.571 121 0% 100 31% 15 66.6% benign(0.008) tolerated(0.73) neutral(0.002) NULL CREM 1390 genome.wustl.edu 37 10 35467899 35467899 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181571.1 +1 reviewed p.R84Q 1.000 81 0% 54 22.2% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_pKID NAMPTL 646309 genome.wustl.edu 37 10 36811891 36811891 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000440465 -1 known p.L424 1.000 176 0% 133 30.8% 1 0% - - - HMMPfam_NAPRTase NAMPTL 646309 genome.wustl.edu 37 10 36812212 36812212 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000440465 -1 known p.E317D 0.991 169 0% 142 15.5% 30 0% benign(0.004) deleterious(0.02) neutral(0.383) HMMPfam_NAPRTase ANKRD30A 91074 genome.wustl.edu 37 10 37419224 37419224 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052997.2 +1 validated p.L87P 1.000 51 0% 29 44.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD30A 91074 genome.wustl.edu 37 10 37433955 37433955 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052997.2 +1 validated p.E420K 0.002 182 0% 198 26.3% 0 - benign(0.224) tolerated(0.32) neutral(0.046) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37451773 37451773 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052997.2 +1 validated p.A611T 0.314 183 0% 184 35.3% 0 - benign(0.355) tolerated(0.64) neutral(0.116) NULL LOC646360 646360 genome.wustl.edu 37 10 37627221 37627221 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_078419.1 +1 model NULL 1.000 118 0% 138 39.9% 0 - - - - - LOC646360 646360 genome.wustl.edu 37 10 37627599 37627599 + RNA SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_078419.1 +1 model NULL 0.170 96 0% 117 28.2% 0 - - - - - LOC340947 340947 genome.wustl.edu 37 10 38369347 38369347 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001131609.2 -1 model p.P196 1.000 83 0% 76 32.9% 0 - - - - HMMPfam_Paf67 LOC340947 340947 genome.wustl.edu 37 10 38369624 38369624 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001131609.2 -1 model p.R104M 1.000 74 0% 65 29.2% 0 - - - - HMMPfam_Paf67 ZNF37A 7587 genome.wustl.edu 37 10 38406783 38406783 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007094.2 +1 validated p.R235I 0.999 254 0.4% 231 26.8% 4 50% benign(0.43) deleterious(0.03) deleterious(0.504) NULL BMS1 9790 genome.wustl.edu 37 10 43326443 43326443 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014753.3 +1 reviewed p.R1250W 1.000 42 0% 38 34.2% 84 47.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RASGEF1A 221002 genome.wustl.edu 37 10 43696334 43696334 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000374455 -1 known p.E56* 1.000 30 0% 21 23.8% 1 100% benign(0.242) tolerated(0.35) neutral(0.045) superfamily_Ras GEF HNRNPF 3185 genome.wustl.edu 37 10 43882993 43882993 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098204.1 -1 reviewed p.R114W 0.991 132 0% 115 27.8% 255 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ZNF485 220992 genome.wustl.edu 37 10 44111818 44111818 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145312.3 +1 validated p.T109 0.000 71 0% 77 32.5% 0 - - - - NULL CXCL12 6387 genome.wustl.edu 37 10 44871476 44871476 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033886.2 -1 reviewed p.R91C 1.000 240 0% 124 29.8% 1 0% unknown(0) deleterious(0) - NULL TMEM72 643236 genome.wustl.edu 37 10 45430513 45430513 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001123376.1 +1 provisional p.T253 0.007 70 0% 57 31.6% 0 - - - - NULL RASSF4 83937 genome.wustl.edu 37 10 45484728 45484728 + Missense_Mutation SNP G G A rs148393910 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032023.3 +1 reviewed p.V180M 1.000 44 0% 42 23.8% 11 9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RA,HMMSmart_SM00314 ALOX5 240 genome.wustl.edu 37 10 45891348 45891348 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000698.2 +1 reviewed p.R132Q 1.000 157 0% 112 33% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase ZFAND4 93550 genome.wustl.edu 37 10 46147459 46147459 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128324.1 -1 validated p.K95E 1.000 87 0% 61 26.2% 0 - probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like SYT15 83849 genome.wustl.edu 37 10 46967443 46967443 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031912.3 -1 reviewed p.E212K 0.998 105 0% 61 24.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ASAH2C 653365 genome.wustl.edu 37 10 48020522 48020522 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000426610 -1 known p.Q328H 0.887 270 0% 303 29.4% 0 - probably_damaging(0.97) tolerated(0.37) neutral(0.431) HMMPfam_Ceramidase_alk ZNF488 118738 genome.wustl.edu 37 10 48371011 48371011 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153034.2 +1 provisional p.R160I 1.000 91 0% 49 32.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FRMPD2 143162 genome.wustl.edu 37 10 49379223 49379223 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001018071.3 -1 reviewed p.K1084N 0.999 303 0% 241 19.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,superfamily_PDZ domain-like FRMPD2 143162 genome.wustl.edu 37 10 49431197 49431197 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001018071.3 -1 reviewed p.K429Q 0.999 331 0% 315 27.3% 1 0% possibly_damaging(0.488) deleterious(0.04) deleterious(0.511) HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_Ubiquitin-like MAPK8 5599 genome.wustl.edu 37 10 49617971 49617971 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139047.1 +1 reviewed p.F101S 1.000 297 0% 278 30.9% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ARHGAP22 58504 genome.wustl.edu 37 10 49667846 49667846 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021226.2 -1 validated p.V180 1.000 46 0% 53 26.4% 1 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP LRRC18 474354 genome.wustl.edu 37 10 50121647 50121647 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001006939.3 -1 validated p.S185L 0.000 92 0% 130 25.4% 0 - benign(0.159) tolerated(0.2) neutral(0.063) NULL VSTM4 196740 genome.wustl.edu 37 10 50315954 50315954 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031746.3 -1 validated p.V48I 0.990 45 0% 38 28.9% 2 0% benign(0.035) tolerated(0.22) neutral(0.044) HMMSmart_SM00409,superfamily_Immunoglobulin ERCC6 2074 genome.wustl.edu 37 10 50678569 50678569 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000124.2 -1 reviewed p.S1146I 0.001 518 0% 427 32.6% 4 50% benign(0.069) tolerated(0.09) neutral(0.301) NULL PGBD3 267004 genome.wustl.edu 37 10 50723687 50723687 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170753.2 -1 validated p.E492K 0.062 303 0% 308 40.9% 2 0% possibly_damaging(0.936) deleterious(0.03) deleterious(0.746) NULL ERCC6 2074 genome.wustl.edu 37 10 50732662 50732662 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000124.2 -1 reviewed p.E272K 1.000 169 0% 161 32.3% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL OGDHL 55753 genome.wustl.edu 37 10 50944205 50944205 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018245.2 -1 validated p.D925N 1.000 50 0% 33 24.2% 65 75.3% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL OGDHL 55753 genome.wustl.edu 37 10 50953923 50953923 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018245.2 -1 validated p.D466G 1.000 53 0% 49 20.4% 16 43.7% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_E1_dh,superfamily_SSF52518 AGAP7 653268 genome.wustl.edu 37 10 51465391 51465391 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077685.1 -1 provisional p.S355 0.999 152 0% 192 13% 0 - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 NCOA4 8031 genome.wustl.edu 37 10 51585586 51585586 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145260.1 +1 reviewed p.R578Q 0.967 277 0% 178 24.7% 75 34.6% possibly_damaging(0.917) deleterious(0.03) deleterious(0.732) NULL AGAP6 414189 genome.wustl.edu 37 10 51769801 51769801 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077665.2 +1 validated p.L639P 0.997 157 0% 147 19% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat FAM21A 387680 genome.wustl.edu 37 10 51853047 51853047 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000314664 +1 known p.S91L 0.192 451 0% 377 30.8% 4 25% - - - NULL SGMS1 259230 genome.wustl.edu 37 10 52103267 52103267 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_147156.3 -1 reviewed p.L203P 1.000 101 0% 78 25.6% 7 42.8% possibly_damaging(0.879) deleterious(0) deleterious(0.787) NULL A1CF 29974 genome.wustl.edu 37 10 52580373 52580373 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138932.1 -1 reviewed p.A269V 1.000 114 0% 84 31% 0 - benign(0.195) deleterious(0) neutral(0.463) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD A1CF 29974 genome.wustl.edu 37 10 52595940 52595940 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138932.1 -1 reviewed p.V166 1.000 520 0% 527 29.8% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD DKK1 22943 genome.wustl.edu 37 10 54074812 54074812 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012242.2 +1 reviewed p.A125T 0.998 14 0% 31 25.8% 0 - probably_damaging(0.977) tolerated(0.13) deleterious(0.671) HMMPfam_Dickkopf_N PCDH15 65217 genome.wustl.edu 37 10 55780102 55780102 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142763.1 -1 reviewed p.L872 0.902 374 0% 294 31.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH15 65217 genome.wustl.edu 37 10 55826564 55826564 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142763.1 -1 reviewed p.L730V 0.162 107 0% 92 31.5% 0 - benign(0.102) tolerated(0.16) neutral(0.068) HMMPfam_Cadherin,superfamily_Cadherin-like IPMK 253430 genome.wustl.edu 37 10 59986882 59986882 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152230.3 -1 provisional p.F99V 0.679 190 0% 163 30.1% 2 50% benign(0) tolerated(0.14) neutral(0.249) HMMPfam_IPK,superfamily_SSF56104 BICC1 80114 genome.wustl.edu 37 10 60556153 60556153 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080512.1 +1 reviewed p.R411 1.000 148 0% 147 32% 2 0% - - - NULL BICC1 80114 genome.wustl.edu 37 10 60558315 60558315 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080512.1 +1 reviewed p.A508V 1.000 407 0.2% 341 29% 3 0% benign(0.108) tolerated(0.24) neutral(0.046) NULL ANK3 288 genome.wustl.edu 37 10 61819105 61819105 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020987.2 -1 reviewed p.D4227Y 1.000 214 0% 156 36.5% 11 54.5% possibly_damaging(0.509) deleterious(0.02) deleterious(0.553) NULL ANK3 288 genome.wustl.edu 37 10 61829258 61829258 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020987.2 -1 reviewed p.S3794Y 1.000 417 0% 372 28.5% 0 - benign(0.345) - - NULL ANK3 288 genome.wustl.edu 37 10 61832066 61832066 + Missense_Mutation SNP G G A rs78194762 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020987.2 -1 reviewed p.S2858L 1.000 161 0% 165 38.8% 0 - benign(0.372) - - NULL ANK3 288 genome.wustl.edu 37 10 61842413 61842413 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020987.2 -1 reviewed p.A1428V 1.000 314 0% 327 26.6% 7 71.4% possibly_damaging(0.744) tolerated(0.35) neutral(0.294) NULL ANK3 288 genome.wustl.edu 37 10 61894114 61894114 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020987.2 -1 reviewed p.S919L 1.000 91 0% 63 36.5% 7 42.8% benign(0.003) tolerated(0.23) neutral(0.042) NULL ANK3 288 genome.wustl.edu 37 10 62023736 62023736 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020987.2 -1 reviewed p.D186N 0.999 94 0% 81 21% 0 - probably_damaging(0.958) tolerated(0.22) neutral(0.444) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK TMEM26 219623 genome.wustl.edu 37 10 63188697 63188697 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178505.6 -1 validated p.E198* 0.765 132 0% 127 30.7% 0 - - - - HMMPfam_Tmem26 ARID5B 84159 genome.wustl.edu 37 10 63852631 63852631 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032199.2 +1 validated p.S1137A 1.000 254 0% 254 31.9% 4 50% probably_damaging(0.973) tolerated(0.09) deleterious(0.712) NULL ZNF365 22891 genome.wustl.edu 37 10 64136636 64136636 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199451.2 +1 reviewed p.M228I 1.000 88 0% 76 28.9% 0 - possibly_damaging(0.633) deleterious(0.04) deleterious(0.570) NULL ZNF365 22891 genome.wustl.edu 37 10 64239643 64239643 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199450.2 +1 reviewed p.A330 0.001 73 0% 67 29.9% 0 - - - - NULL JMJD1C 221037 genome.wustl.edu 37 10 64966473 64966473 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032776.1 -1 validated p.K1652N 1.000 120 0% 111 28.8% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRTM3 347731 genome.wustl.edu 37 10 68687255 68687255 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178011.3 +1 validated p.R194Q 1.000 250 0% 195 29.7% 0 - probably_damaging(0.999) tolerated(0.23) deleterious(0.532) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like CTNNA3 29119 genome.wustl.edu 37 10 68940131 68940131 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127384.1 -1 validated p.E331K 1.000 145 0% 139 28.1% 0 - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_Vinculin HERC4 26091 genome.wustl.edu 37 10 69750676 69750676 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022079.2 -1 validated p.P476 0.985 279 0% 221 26.2% 5 20% - - - NULL HERC4 26091 genome.wustl.edu 37 10 69752390 69752390 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022079.2 -1 validated p.Q373H 1.000 64 0% 45 26.7% 6 16.6% benign(0.009) tolerated(0.31) neutral(0.028) superfamily_RCC1/BLIP-II HERC4 26091 genome.wustl.edu 37 10 69785361 69785361 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022079.2 -1 validated p.N284H 1.000 303 0% 245 30.2% 4 50% probably_damaging(0.991) tolerated(0.1) deleterious(0.730) superfamily_RCC1/BLIP-II MYPN 84665 genome.wustl.edu 37 10 69926291 69926291 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032578.2 +1 validated p.E614G 0.698 142 0% 135 28.9% 0 - benign(0) tolerated(0.7) neutral(0.002) NULL RUFY2 55680 genome.wustl.edu 37 10 70164501 70164501 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017987.4 -1 validated p.T70 0.986 113 0% 124 27.4% 0 - - - - NULL DNA2 1763 genome.wustl.edu 37 10 70196989 70196989 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080449.1 -1 provisional p.S561 0.975 201 0% 200 27% 1 0% - - - NULL DNA2 1763 genome.wustl.edu 37 10 70209959 70209959 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080449.1 -1 provisional p.V341 0.560 67 0% 56 30.4% 1 0% - - - HMMPfam_Dna2 DNA2 1763 genome.wustl.edu 37 10 70227917 70227917 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080449.1 -1 provisional p.R221Q 1.000 93 0% 86 32.6% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_Dna2 DNA2 1763 genome.wustl.edu 37 10 70229826 70229826 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080449.1 -1 provisional p.N143H 0.997 82 0% 70 28.6% 2 100% benign(0.159) tolerated(0.12) neutral(0.275) NULL TET1 80312 genome.wustl.edu 37 10 70332760 70332760 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030625.2 +1 validated p.R222H 0.000 105 0% 117 35.9% 0 - benign(0.001) tolerated(1) - NULL ENSG00000247499 0 genome.wustl.edu 37 10 70546266 70546266 + RNA SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000501160 -1 known NULL 0.000 43 0% 72 29.2% 0 - - - - - STOX1 219736 genome.wustl.edu 37 10 70645939 70645939 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130161.2 +1 reviewed p.R796I 0.000 138 0% 182 29.7% 1 0% benign(0.263) tolerated(0.12) neutral(0.288) NULL SUPV3L1 6832 genome.wustl.edu 37 10 70968397 70968397 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003171.3 +1 provisional p.R656Q 1.000 162 0% 102 16.7% 28 21.4% probably_damaging(0.975) deleterious(0.03) deleterious(0.781) NULL HKDC1 80201 genome.wustl.edu 37 10 71007146 71007146 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025130.3 +1 validated p.E354D 1.000 127 0% 97 18.6% 2 50% benign(0) tolerated(0.46) neutral(0.012) HMMPfam_Hexokinase_2,superfamily_Actin-like ATPase domain HK1 3098 genome.wustl.edu 37 10 71142421 71142421 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033497.2 +1 reviewed p.D486N 1.000 41 0% 41 14.6% 45 17.7% benign(0.003) deleterious(0.03) neutral(0.364) HMMPfam_Hexokinase_1,superfamily_SSF53067 HK1 3098 genome.wustl.edu 37 10 71144180 71144180 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033497.2 +1 reviewed p.E558D 0.999 141 0% 126 31% 37 35.1% benign(0.009) tolerated(0.36) neutral(0.021) HMMPfam_Hexokinase_1,superfamily_SSF53067 TACR2 6865 genome.wustl.edu 37 10 71175864 71175864 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001057.2 -1 validated p.I72 0.256 29 0% 28 17.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TSPAN15 23555 genome.wustl.edu 37 10 71244961 71244961 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012339.3 +1 reviewed p.F116Y 1.000 81 0% 71 23.9% 59 28.8% possibly_damaging(0.913) tolerated(0.12) deleterious(0.625) superfamily_Tetraspanin,HMMPfam_Tetraspannin KIAA1274 27143 genome.wustl.edu 37 10 72298727 72298727 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014431.2 +1 validated p.R511H 0.998 24 0% 22 31.8% 8 50% probably_damaging(0.953) tolerated(0.19) neutral(0.446) NULL C10orf27 219793 genome.wustl.edu 37 10 72539473 72539473 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152710.2 -1 validated p.V101 0.007 72 0% 92 34.8% 0 - - - - NULL C10orf27 219793 genome.wustl.edu 37 10 72541716 72541716 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152710.2 -1 validated p.E40* 0.320 75 0% 64 31.2% 0 - - - - NULL SGPL1 8879 genome.wustl.edu 37 10 72617373 72617373 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003901.3 +1 validated p.A138T 0.097 112 0% 88 35.2% 41 39% benign(0.001) tolerated(0.4) neutral(0.016) superfamily_PLP-dependent transferases UNC5B 219699 genome.wustl.edu 37 10 73047500 73047500 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170744.3 +1 validated p.T293 0.012 58 0% 40 37.5% 13 15.3% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat CDH23 64072 genome.wustl.edu 37 10 73405614 73405614 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022124.5 +1 reviewed p.Y389* 1.000 32 0% 32 37.5% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73492133 73492133 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022124.5 +1 reviewed e31+1 1.000 8 0.000 15 0.400 0 - - - - - CDH23 64072 genome.wustl.edu 37 10 73574991 73574991 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022124.5 +1 reviewed p.R3341C 0.274 24 0% 32 28.1% 1 0% benign(0.187) deleterious(0) neutral(0.462) NULL ANXA7 310 genome.wustl.edu 37 10 75142956 75142956 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004034.2 -1 reviewed p.R321C 0.997 178 0% 158 10.8% 157 19.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 USP54 159195 genome.wustl.edu 37 10 75258467 75258467 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152586.3 -1 provisional p.E1659K 0.037 199 0% 263 30% 7 0% possibly_damaging(0.564) deleterious(0) deleterious(0.637) NULL USP54 159195 genome.wustl.edu 37 10 75276512 75276512 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152586.3 -1 provisional p.Q1224 0.006 174 0% 146 31.5% 4 25% - - - NULL SEC24C 9632 genome.wustl.edu 37 10 75530509 75530509 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004922.2 +1 reviewed p.R1033* 0.958 250 0% 256 32% 52 25% - - - HMMPfam_Gelsolin,superfamily_C-terminal gelsolin-like domain of Sec23/24 CAMK2G 818 genome.wustl.edu 37 10 75607064 75607064 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000441192 -1 known p.E25* 1.000 56 0% 51 21.6% 9 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase VCL 7414 genome.wustl.edu 37 10 75867018 75867018 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014000.2 +1 reviewed p.Y822C 1.000 95 0% 95 37.9% 50 30% probably_damaging(0.997) tolerated(0.06) deleterious(0.788) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin KCNMA1 3778 genome.wustl.edu 37 10 78647231 78647231 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000372403 -1 known p.R1061Q 1.000 97 0% 120 26.7% 0 - - - - NULL KCNMA1 3778 genome.wustl.edu 37 10 78647233 78647233 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001014797.2 -1 reviewed p.P1114S 1.000 94 0% 116 12.1% 1 0% benign(0.008) tolerated(0.13) neutral(0.253) NULL MAT1A 4143 genome.wustl.edu 37 10 82040037 82040037 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000429.2 -1 reviewed p.E147 0.156 119 0% 119 28.6% 0 - - - - HMMPfam_S-AdoMet_synt_M,superfamily_S-AdoMet_synt DYDC2 84332 genome.wustl.edu 37 10 82122272 82122272 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032372.4 +1 provisional p.R25W 0.805 53 0% 56 32.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Dpy-30 FAM213A 84293 genome.wustl.edu 37 10 82187231 82187231 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032333.4 +1 validated p.F185 1.000 125 0% 144 31.2% 141 51.7% - - - NULL TSPAN14 81619 genome.wustl.edu 37 10 82269209 82269209 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030927.2 +1 validated p.I144 0.247 246 0% 237 29.1% 84 63% - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin NRG3 10718 genome.wustl.edu 37 10 83635877 83635877 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010848.3 +1 reviewed p.A261T 0.000 15 0% 12 58.3% 0 - benign(0) tolerated(0.7) neutral(0.002) NULL GHITM 27069 genome.wustl.edu 37 10 85903762 85903762 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014394.2 +1 validated p.G81* 1.000 67 0% 60 25% 151 0.6% - - - NULL LRIT1 26103 genome.wustl.edu 37 10 85992454 85992454 + Silent SNP G G A rs188740348 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015613.2 -1 validated p.G367 0.000 47 0% 30 46.7% 0 - - - - NULL LRIT1 26103 genome.wustl.edu 37 10 85997337 85997337 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015613.2 -1 validated p.G76 0.003 28 0% 13 30.8% 0 - - - - superfamily_SSF52058 GRID1 2894 genome.wustl.edu 37 10 87484317 87484317 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017551.2 -1 reviewed p.E550D 1.000 97 0% 64 35.9% 1 0% probably_damaging(0.988) tolerated(0.05) deleterious(0.783) HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GRID1 2894 genome.wustl.edu 37 10 87484318 87484318 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017551.2 -1 reviewed p.E550G 1.000 96 0% 63 34.9% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II MINPP1 9562 genome.wustl.edu 37 10 89264870 89264870 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004897.4 +1 validated p.A66 0.001 21 0% 17 23.5% 8 37.5% - - - superfamily_Phosphoglycerate mutase-like PAPSS2 9060 genome.wustl.edu 37 10 89472953 89472953 + Silent SNP C C T rs144784084 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001015880.1 +1 reviewed p.L89 0.724 201 0% 180 33.3% 9 0% - - - HMMPfam_APS_kinase,superfamily_SSF52540 PAPSS2 9060 genome.wustl.edu 37 10 89474778 89474778 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001015880.1 +1 reviewed p.E226K 1.000 177 0% 151 33.8% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PUA-like PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000371953 +1 known p.R130Q 1.000 367 0.3% 191 48.2% 64 32.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II STAMBPL1 57559 genome.wustl.edu 37 10 90681119 90681119 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020799.2 +1 provisional p.A374V 1.000 126 0% 93 33.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00232,superfamily_JAB1/MPN domain FAS 355 genome.wustl.edu 37 10 90770295 90770295 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000043.3 +1 reviewed e5-1 0.991 144 0% 105 32.4% 0 - - - - - CH25H 9023 genome.wustl.edu 37 10 90966537 90966537 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003956.3 -1 reviewed p.T171 0.998 133 0% 88 22.7% 3 0% - - - HMMPfam_FA_hydroxylase LIPA 3988 genome.wustl.edu 37 10 90983569 90983569 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000235.2 -1 reviewed p.E232* 0.447 263 0% 239 26.4% 14 0% - - - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases IFIT3 3437 genome.wustl.edu 37 10 91099805 91099805 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031683.2 +1 validated p.D465Y 0.000 198 0% 150 28% 6 0% possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL IFIT1 3434 genome.wustl.edu 37 10 91162423 91162423 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001548.3 +1 validated p.P131S 0.000 212 0% 286 28.3% 8 12.5% benign(0.141) tolerated(0.09) neutral(0.308) superfamily_TPR-like IFIT1 3434 genome.wustl.edu 37 10 91162636 91162636 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001548.3 +1 validated p.S202A 0.606 657 0% 736 36% 5 20% possibly_damaging(0.913) tolerated(0.3) neutral(0.393) superfamily_TPR-like IFIT5 24138 genome.wustl.edu 37 10 91177930 91177930 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012420.2 +1 validated p.F325C 0.961 233 0% 221 29% 7 0% benign(0.207) tolerated(0.18) neutral(0.076) superfamily_SSF48452 KIF20B 9585 genome.wustl.edu 37 10 91469805 91469805 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016195.2 +1 validated p.K158T 1.000 134 0% 118 25.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF20B 9585 genome.wustl.edu 37 10 91497726 91497726 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016195.2 +1 validated p.R1003Q 0.000 295 0% 187 30.5% 2 50% benign(0) tolerated(0.34) neutral(0.023) NULL KIF20B 9585 genome.wustl.edu 37 10 91514307 91514307 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016195.2 +1 validated p.K1420N 0.997 132 0% 81 29.6% 6 33.3% benign(0.296) deleterious(0) deleterious(0.536) NULL KIF20B 9585 genome.wustl.edu 37 10 91520360 91520360 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016195.2 +1 validated p.S1546 0.000 104 0% 63 12.7% 7 42.8% - - - NULL HTR7 3363 genome.wustl.edu 37 10 92509291 92509291 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019859.3 -1 reviewed p.A200 0.882 88 0% 95 36.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RPP30 10556 genome.wustl.edu 37 10 92631765 92631765 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001104546.1 +1 validated p.D8N 0.999 98 0% 86 23.3% 25 28% benign(0.001) tolerated(1) - superfamily_PHP domain-like PCGF5 84333 genome.wustl.edu 37 10 93021104 93021104 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032373.3 +1 provisional p.R166* 1.000 117 0.9% 66 37.9% 3 0% - - - NULL HECTD2 143279 genome.wustl.edu 37 10 93253232 93253232 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182765.3 +1 validated p.C496W 1.000 55 0% 32 28.1% 0 - probably_damaging(0.995) tolerated(0.18) deleterious(0.514) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT TNKS2 80351 genome.wustl.edu 37 10 93619225 93619225 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025235.3 +1 validated p.P1034H 1.000 147 0% 155 28.4% 15 20% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PARP,superfamily_SSF56399 IDE 3416 genome.wustl.edu 37 10 94268595 94268595 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004969.3 -1 reviewed p.F317C 1.000 254 0% 195 29.2% 14 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd EXOC6 54536 genome.wustl.edu 37 10 94653187 94653187 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019053.4 +1 reviewed p.E61D 1.000 301 0.3% 268 33.6% 1 0% benign(0.026) tolerated(0.63) neutral(0.005) NULL EXOC6 54536 genome.wustl.edu 37 10 94654714 94654714 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019053.4 +1 reviewed p.R117* 1.000 425 0% 371 24.3% 2 0% - - - NULL EXOC6 54536 genome.wustl.edu 37 10 94675524 94675524 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019053.4 +1 reviewed p.Q225E 1.000 265 0% 195 29.2% 0 - benign(0.006) deleterious(0.03) neutral(0.364) NULL EXOC6 54536 genome.wustl.edu 37 10 94715465 94715465 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019053.4 +1 reviewed p.T589 0.995 102 0% 98 34.7% 2 0% - - - HMMPfam_Sec15 CYP26A1 1592 genome.wustl.edu 37 10 94834624 94834624 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000783.3 +1 reviewed p.L168R 1.000 29 0% 26 34.6% 2 100% probably_damaging(1) tolerated(0.43) deleterious(0.513) HMMPfam_p450,superfamily_Cytochrome_P450 LGI1 9211 genome.wustl.edu 37 10 95556818 95556818 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005097.2 +1 reviewed p.R311Q 1.000 222 0% 180 29.4% 0 - probably_damaging(0.999) tolerated(0.19) deleterious(0.540) HMMPfam_EPTP PLCE1 51196 genome.wustl.edu 37 10 95848940 95848940 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000371375 +1 known p.K30T 1.000 134 0% 123 31.7% 0 - benign(0.048) - - NULL PLCE1 51196 genome.wustl.edu 37 10 96014664 96014664 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016341.3 +1 reviewed p.A1138T 0.003 823 0% 719 28.9% 0 - benign(0) tolerated(1) - NULL PLCE1 51196 genome.wustl.edu 37 10 96030304 96030304 + Missense_Mutation SNP C C T rs121912605 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016341.3 +1 reviewed p.S1484L 1.000 228 0% 156 25.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases NOC3L 64318 genome.wustl.edu 37 10 96094437 96094437 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022451.9 -1 provisional p.E743A 1.000 211 0% 153 37.3% 19 42.1% benign(0) tolerated(0.54) neutral(0.007) NULL NOC3L 64318 genome.wustl.edu 37 10 96106288 96106288 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022451.9 -1 provisional p.R428K 1.000 128 0% 93 25.8% 8 50% benign(0.078) tolerated(0.44) neutral(0.018) NULL CYP2C9 1559 genome.wustl.edu 37 10 96740962 96740962 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000771.3 +1 reviewed p.E328 0.006 298 0% 266 27.1% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP2C8 1558 genome.wustl.edu 37 10 96824642 96824642 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000770.3 -1 reviewed p.R186L 0.959 377 0% 256 29.3% 0 - possibly_damaging(0.611) deleterious(0) deleterious(0.656) HMMPfam_p450,superfamily_Cytochrome_P450 C10orf129 142827 genome.wustl.edu 37 10 96967012 96967012 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207321.2 +1 validated p.R151C 0.032 162 0% 118 29.7% 0 - probably_damaging(0.985) tolerated(0.06) deleterious(0.754) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like C10orf129 142827 genome.wustl.edu 37 10 96970503 96970503 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207321.2 +1 validated p.V236 0.023 259 0% 182 28.6% 0 - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like SORBS1 10580 genome.wustl.edu 37 10 97081759 97081759 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001034954.1 -1 validated p.R1220Q 1.000 163 0% 108 32.4% 2 0% benign(0.167) tolerated(0.43) neutral(0.028) superfamily_SH3-domain SORBS1 10580 genome.wustl.edu 37 10 97170406 97170406 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001034954.1 -1 validated p.L313 0.993 137 0% 121 40.5% 2 0% - - - NULL CC2D2B 387707 genome.wustl.edu 37 10 97769622 97769622 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001732.3 +1 validated p.R21K 0.991 213 0% 179 30.7% 0 - benign(0.08) tolerated(0.07) neutral(0.325) NULL ZNF518A 9849 genome.wustl.edu 37 10 97917389 97917389 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000371192 +1 known p.S437Y 1.000 249 0% 238 29.8% 1 100% - - - NULL ZNF518A 9849 genome.wustl.edu 37 10 97918180 97918180 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000371192 +1 known p.S701R 0.963 227 0% 163 30.7% 1 0% - - - NULL ZNF518A 9849 genome.wustl.edu 37 10 97919368 97919368 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000371192 +1 known p.F1097V 0.568 204 0% 170 27.6% 5 60% - - - NULL DNTT 1791 genome.wustl.edu 37 10 98092148 98092148 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004088.3 +1 reviewed p.E385G 0.997 166 0% 115 35.7% 0 - possibly_damaging(0.716) deleterious(0.02) deleterious(0.642) HMMSmart_SM00483,HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase OPALIN 93377 genome.wustl.edu 37 10 98105733 98105733 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033207.3 -1 validated p.L131 0.001 226 0% 198 28.8% 0 - - - - NULL LCOR 84458 genome.wustl.edu 37 10 98715309 98715309 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032440.3 +1 validated p.S311Y 1.000 97 0% 130 31.5% 0 - benign(0.001) tolerated(0.23) neutral(0.042) NULL C10orf12 26148 genome.wustl.edu 37 10 98744015 98744015 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015652.2 +1 predicted p.D956 0.227 299 0% 282 33.7% 1 0% - - - NULL SLIT1 6585 genome.wustl.edu 37 10 98762522 98762522 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003061.2 -1 validated p.E1365K 0.990 24 0% 21 47.6% 1 0% benign(0.059) tolerated(0.55) neutral(0.011) HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin SLIT1 6585 genome.wustl.edu 37 10 98803214 98803214 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003061.2 -1 validated p.R637H 1.000 23 0% 37 35.1% 0 - benign(0.127) tolerated(0.19) neutral(0.060) HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like ARHGAP19 84986 genome.wustl.edu 37 10 99019234 99019234 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032900.4 -1 validated p.K255N 1.000 170 0% 188 33% 5 40% probably_damaging(0.967) tolerated(0.15) deleterious(0.650) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP CRTAC1 55118 genome.wustl.edu 37 10 99640121 99640121 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000298819 -1 known p.S554L 0.358 205 0% 218 32.6% 1 0% benign(0.104) - - NULL CRTAC1 55118 genome.wustl.edu 37 10 99770903 99770903 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018058.4 -1 validated p.V72 0.000 75 0% 81 32.1% 0 - - - - superfamily_Integrin alpha N-terminal domain C10orf28 27291 genome.wustl.edu 37 10 99968054 99968054 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014472.4 +1 validated p.V61 0.147 229 0% 184 31.5% 4 25% - - - NULL PYROXD2 84795 genome.wustl.edu 37 10 100144783 100144783 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032709.2 -1 validated p.F532 0.590 38 0% 51 19.6% 6 66.6% - - - NULL CNNM1 26507 genome.wustl.edu 37 10 101090494 101090494 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020348.2 +1 validated p.F450 1.000 93 0% 71 22.5% 0 - - - - NULL SLC25A28 81894 genome.wustl.edu 37 10 101370677 101370677 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031212.3 -1 validated p.A342T 1.000 146 0% 120 33.3% 41 24.3% benign(0.011) tolerated(0.32) neutral(0.025) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SLC25A28 81894 genome.wustl.edu 37 10 101370942 101370942 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031212.3 -1 validated p.F253 1.000 107 0% 78 32.1% 35 37.1% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ENTPD7 57089 genome.wustl.edu 37 10 101421343 101421343 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020354.3 +1 validated p.R50Q 1.000 169 0% 161 35.4% 4 25% benign(0.222) tolerated(0.31) neutral(0.049) NULL COX15 1355 genome.wustl.edu 37 10 101480791 101480791 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_078470.4 -1 reviewed p.R262Q 1.000 67 0% 68 29.4% 41 31.7% benign(0.251) tolerated(0.09) neutral(0.322) HMMPfam_COX15-CtaA ABCC2 1244 genome.wustl.edu 37 10 101578854 101578854 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000392.3 +1 reviewed p.L816 1.000 184 0% 155 32.3% 1 0% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC2 1244 genome.wustl.edu 37 10 101590090 101590090 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000392.3 +1 reviewed p.D883N 0.781 161 0% 114 24.6% 0 - benign(0.177) tolerated(0.5) neutral(0.027) NULL ABCC2 1244 genome.wustl.edu 37 10 101591417 101591417 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000392.3 +1 reviewed p.S978L 0.000 249 0% 207 28.5% 0 - benign(0) tolerated(0.66) neutral(0.003) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC2 1244 genome.wustl.edu 37 10 101601737 101601737 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000392.3 +1 reviewed p.R1210C 1.000 58 0% 55 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain DNMBP 23268 genome.wustl.edu 37 10 101654768 101654768 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015221.2 -1 validated p.R1031* 1.000 106 0% 65 30.8% 2 0% - - - HMMPfam_BAR,HMMSmart_SM00721 DNMBP 23268 genome.wustl.edu 37 10 101667762 101667762 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015221.2 -1 validated p.S848 0.997 114 0% 107 30.8% 0 - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) DNMBP 23268 genome.wustl.edu 37 10 101715898 101715898 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015221.2 -1 validated p.D445N 0.007 308 0% 352 28.7% 1 100% benign(0.139) deleterious(0.02) neutral(0.395) NULL DNMBP 23268 genome.wustl.edu 37 10 101728976 101728976 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015221.2 -1 validated p.F55C 1.000 166 0% 163 28.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CPN1 1369 genome.wustl.edu 37 10 101825073 101825073 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001308.2 -1 reviewed p.L211I 1.000 61 0% 65 18.5% 0 - probably_damaging(0.953) tolerated(0.08) deleterious(0.697) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CWF19L1 55280 genome.wustl.edu 37 10 101995447 101995447 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018294.4 -1 validated p.K483N 0.997 131 0% 88 30.7% 6 16.6% benign(0.146) tolerated(0.07) neutral(0.332) HMMPfam_CwfJ_C_2 SCD 6319 genome.wustl.edu 37 10 102120659 102120659 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005063.4 +1 validated p.R350I 1.000 150 0% 105 29.5% 133 36% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SEC31B 25956 genome.wustl.edu 37 10 102265892 102265892 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015490.3 -1 reviewed p.S317P 0.994 256 0% 221 20.4% 0 - benign(0) tolerated(0.13) neutral(0.253) HMMSmart_SM00320,superfamily_WD40 repeat-like HIF1AN 55662 genome.wustl.edu 37 10 102296219 102296219 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017902.2 +1 validated p.D77N 1.000 224 0.4% 188 38.3% 14 50% probably_damaging(0.985) tolerated(0.21) deleterious(0.476) superfamily_SSF51197 HIF1AN 55662 genome.wustl.edu 37 10 102304802 102304802 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017902.2 +1 validated p.F224 1.000 114 0% 114 22.8% 25 32% - - - HMMSmart_JmjC,superfamily_SSF51197 HIF1AN 55662 genome.wustl.edu 37 10 102306918 102306918 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017902.2 +1 validated p.I306V 1.000 44 0% 41 26.8% 35 40% benign(0.061) deleterious(0.03) neutral(0.368) HMMSmart_JmjC,superfamily_SSF51197 PAX2 5076 genome.wustl.edu 37 10 102587369 102587369 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000370294 +1 known p.R416H 1.000 148 0% 100 10% 0 - possibly_damaging(0.801) deleterious(0.02) deleterious(0.684) NULL MGEA5 10724 genome.wustl.edu 37 10 103558652 103558652 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012215.3 -1 validated p.R586* 1.000 215 0% 224 33% 8 0% - - - NULL LDB1 8861 genome.wustl.edu 37 10 103869714 103869714 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113407.1 -1 validated p.H204Q 1.000 81 0% 82 25.6% 90 47.7% possibly_damaging(0.664) tolerated(0.09) deleterious(0.531) HMMPfam_LIM_bind SUFU 51684 genome.wustl.edu 37 10 104389894 104389894 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000441466 +1 known p.R374* 0.998 86 0% 174 63.2% 11 9% - - - HMMPfam_SUFU CYP17A1 1586 genome.wustl.edu 37 10 104596925 104596925 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000102.3 -1 reviewed p.S65L 0.998 102 0% 118 32.2% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_p450,superfamily_Cytochrome P450 AS3MT 57412 genome.wustl.edu 37 10 104638216 104638216 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000369880 +1 known p.V231F 1.000 416 0% 238 16% 6 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PDCD11 22984 genome.wustl.edu 37 10 105165809 105165809 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014976.1 +1 validated p.T211N 1.000 235 0% 268 30.6% 4 75% benign(0.111) tolerated(0.07) neutral(0.328) superfamily_Nucleic_acid_OB,HMMSmart_S1 PDCD11 22984 genome.wustl.edu 37 10 105187118 105187118 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014976.1 +1 validated p.R1113Q 0.764 316 0% 248 28.2% 20 35% benign(0.058) tolerated(0.49) neutral(0.014) superfamily_Nucleic_acid_OB NEURL 9148 genome.wustl.edu 37 10 105331434 105331434 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004210.4 +1 validated p.I168 0.981 37 0% 38 18.4% 1 0% - - - HMMSmart_SM00588 SH3PXD2A 9644 genome.wustl.edu 37 10 105365611 105365611 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014631.2 -1 validated p.E430K 1.000 125 0% 130 19.2% 6 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00326,superfamily_SH3-domain COL17A1 1308 genome.wustl.edu 37 10 105831820 105831820 + Nonsense_Mutation SNP G G A rs121912774 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000494.3 -1 reviewed p.R145* 1.000 76 0% 74 32.4% 3 0% - - - NULL COL17A1 1308 genome.wustl.edu 37 10 105833945 105833945 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000494.3 -1 reviewed p.F126V 0.952 269 0% 229 32.8% 2 0% unknown(0) deleterious(0.03) - NULL WDR96 80217 genome.wustl.edu 37 10 105905294 105905294 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025145.5 -1 provisional p.F1295S 1.000 124 0% 88 37.5% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like ITPRIP 85450 genome.wustl.edu 37 10 106074373 106074373 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033397.2 -1 provisional p.I479 0.463 93 0% 49 28.6% 3 0% - - - NULL ITPRIP 85450 genome.wustl.edu 37 10 106074737 106074737 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033397.2 -1 provisional p.D358G 1.000 96 0% 85 30.6% 5 40% probably_damaging(0.967) tolerated(0.37) neutral(0.428) NULL CCDC147 159686 genome.wustl.edu 37 10 106159247 106159247 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008723.1 +1 validated p.E602K 1.000 92 0% 91 13.2% 0 - probably_damaging(0.993) deleterious(0.03) deleterious(0.815) NULL SORCS3 22986 genome.wustl.edu 37 10 107005408 107005408 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014978.1 +1 reviewed p.E993* 1.000 89 0% 95 31.6% 0 - - - - superfamily_PKD SORCS1 114815 genome.wustl.edu 37 10 108357161 108357161 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000452214 -1 known p.S86L 1.000 90 0% 94 29.8% 0 - - - - NULL SORCS1 114815 genome.wustl.edu 37 10 108388985 108388985 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013031.1 -1 reviewed p.S879 1.000 68 0% 106 35.8% 0 - - - - HMMPfam_PKD,HMMSmart_PKD,superfamily_PKD SORCS1 114815 genome.wustl.edu 37 10 108389108 108389108 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013031.1 -1 reviewed p.G838 0.010 61 0% 96 33.3% 0 - - - - HMMPfam_PKD,HMMSmart_PKD,superfamily_PKD SORCS1 114815 genome.wustl.edu 37 10 108489832 108489832 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013031.1 -1 reviewed p.L334I 1.000 197 0% 186 15.6% 0 - benign(0.082) tolerated(0.75) neutral(0.007) HMMSmart_VPS10,superfamily_SSF110296 XPNPEP1 7511 genome.wustl.edu 37 10 111643876 111643876 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020383.3 -1 reviewed p.E217G 1.000 203 0% 150 31.3% 43 32.5% possibly_damaging(0.595) deleterious(0.04) deleterious(0.555) NULL ADD3 120 genome.wustl.edu 37 10 111876161 111876161 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016824.3 +1 reviewed p.Y160F 1.000 216 0% 201 27.4% 7 28.5% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase ADD3 120 genome.wustl.edu 37 10 111878434 111878434 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016824.3 +1 reviewed p.I219 1.000 149 0% 122 27% 6 16.6% - - - HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase ADD3 120 genome.wustl.edu 37 10 111879242 111879242 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016824.3 +1 reviewed p.H294N 1.000 381 0% 374 15.2% 10 50% possibly_damaging(0.872) deleterious(0) deleterious(0.784) HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase ADD3 120 genome.wustl.edu 37 10 111890220 111890220 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016824.3 +1 reviewed p.E570K 1.000 241 0% 223 31.8% 20 55% possibly_damaging(0.749) deleterious(0) deleterious(0.720) NULL MXI1 4601 genome.wustl.edu 37 10 112044616 112044616 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130439.3 +1 reviewed p.F253L 1.000 141 0% 106 27.4% 4 25% benign(0.059) tolerated(0.18) neutral(0.060) NULL SHOC2 8036 genome.wustl.edu 37 10 112724517 112724517 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007373.3 +1 reviewed p.K134T 1.000 245 0% 185 28.1% 10 40% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_L domain-like SHOC2 8036 genome.wustl.edu 37 10 112769584 112769584 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007373.3 +1 reviewed p.E512D 1.000 124 0% 86 29.1% 20 35% possibly_damaging(0.67) deleterious(0.03) deleterious(0.602) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_L domain-like ACSL5 51703 genome.wustl.edu 37 10 114154681 114154681 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016234.3 +1 reviewed p.N49H 0.997 554 0% 417 25.2% 3 0% possibly_damaging(0.896) deleterious(0) deleterious(0.798) NULL ACSL5 51703 genome.wustl.edu 37 10 114176774 114176774 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016234.3 +1 reviewed p.K460N 1.000 176 0% 160 39.4% 11 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Acetyl-CoA synthetase-like HABP2 3026 genome.wustl.edu 37 10 115334082 115334082 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004132.3 +1 reviewed p.E47D 0.001 184 0% 151 27.2% 0 - probably_damaging(0.99) tolerated(0.27) deleterious(0.475) NULL NRAP 4892 genome.wustl.edu 37 10 115385856 115385856 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198060.2 -1 validated p.D732N 0.926 26 0% 29 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nebulin,HMMSmart_SM00227 NRAP 4892 genome.wustl.edu 37 10 115392924 115392924 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198060.2 -1 validated p.E517D 1.000 127 0% 111 27% 0 - probably_damaging(0.999) tolerated(0.26) deleterious(0.524) HMMPfam_Nebulin,HMMSmart_SM00227 NHLRC2 374354 genome.wustl.edu 37 10 115636598 115636598 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198514.2 +1 provisional p.S217Y 1.000 252 0% 283 35.3% 5 60% benign(0.372) tolerated(0.28) neutral(0.150) superfamily_NHL repeat ABLIM1 3983 genome.wustl.edu 37 10 116245085 116245085 + Nonsense_Mutation SNP G G A rs182557837 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003408.1 -1 reviewed p.R306* 1.000 28 0% 19 36.8% 0 - - - - NULL ABLIM1 3983 genome.wustl.edu 37 10 116417743 116417743 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002313.5 -1 reviewed p.R73C 0.002 215 0% 191 28.3% 0 - benign(0.339) deleterious(0.02) deleterious(0.490) NULL ATRNL1 26033 genome.wustl.edu 37 10 116930986 116930986 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207303.2 +1 validated p.M428I 1.000 487 0% 324 15.4% 0 - benign(0.309) deleterious(0.04) neutral(0.446) superfamily_Galactose oxidase central domain GFRA1 2674 genome.wustl.edu 37 10 117849250 117849250 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005264.4 -1 reviewed e8+2 1.000 186 0% 183 26.8% 0 - - - - - GFRA1 2674 genome.wustl.edu 37 10 117884934 117884934 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005264.4 -1 reviewed p.R190C 0.998 22 0% 33 42.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_GDNF,superfamily_GDNF receptor-like (Pfam 02351) C10orf96 374355 genome.wustl.edu 37 10 118101710 118101710 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198515.2 +1 validated p.S149R 0.893 133 0% 109 27.5% 0 - benign(0) tolerated(0.6) neutral(0.004) NULL PNLIPRP3 119548 genome.wustl.edu 37 10 118236611 118236611 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001011709.2 +1 validated p.F450L 0.995 309 0% 230 31.3% 1 0% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_PLAT,PatternScan_HMG_COA_REDUCTASE_1,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) PNLIPRP1 5407 genome.wustl.edu 37 10 118357455 118357455 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006229.2 +1 provisional p.F230L 0.038 106 0% 92 13% 0 - benign(0) tolerated(0.65) neutral(0.003) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIPRP1 5407 genome.wustl.edu 37 10 118357456 118357456 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006229.2 +1 provisional p.L231V 0.030 105 0% 91 30.8% 0 - benign(0.204) deleterious(0.01) neutral(0.425) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases KIAA1598 57698 genome.wustl.edu 37 10 118728221 118728221 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127211.1 -1 validated p.C38 1.000 73 0% 41 19.5% 9 66.6% - - - NULL KCNK18 338567 genome.wustl.edu 37 10 118969762 118969762 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181840.1 +1 provisional p.V369 0.000 101 0% 111 34.2% 0 - - - - NULL SLC18A2 6571 genome.wustl.edu 37 10 119036686 119036686 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003054.4 +1 reviewed p.D485G 1.000 112 0% 80 25% 0 - benign(0.221) tolerated(0.27) neutral(0.056) NULL PDZD8 118987 genome.wustl.edu 37 10 119049778 119049778 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173791.3 -1 provisional p.V394I 0.999 136 0% 133 27.8% 18 44.4% possibly_damaging(0.949) tolerated(0.08) deleterious(0.693) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ LOC100129413 100129413 genome.wustl.edu 37 10 119799610 119799610 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001726297.1 +1 model p.S2R 0.000 102 0% 118 28% 0 - - - - NULL RAB11FIP2 22841 genome.wustl.edu 37 10 119805334 119805334 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014904.2 -1 validated p.R114I 1.000 81 0% 70 25.7% 1 0% possibly_damaging(0.577) deleterious(0.01) deleterious(0.604) HMMSmart_C2,superfamily_C2_CaLB C10orf46 143384 genome.wustl.edu 37 10 120454686 120454686 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153810.4 -1 validated p.N285H 1.000 255 0% 184 22.3% 5 40% benign(0.075) tolerated(0.12) neutral(0.266) NULL C10orf46 143384 genome.wustl.edu 37 10 120460893 120460893 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153810.4 -1 validated p.N241D 1.000 100 0% 112 25.9% 6 50% possibly_damaging(0.649) tolerated(0.09) deleterious(0.524) HMMPfam_Cullin,superfamily_Cullin repeat EIF3A 8661 genome.wustl.edu 37 10 120795559 120795559 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003750.2 -1 validated p.R1381* 1.000 77 0% 80 16.3% 89 20.2% - - - NULL SFXN4 119559 genome.wustl.edu 37 10 120923699 120923699 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_213649.1 -1 validated p.R41* 0.410 309 0% 247 33.6% 4 0% - - - HMMPfam_Mtc FGFR2 2263 genome.wustl.edu 37 10 123247585 123247585 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022970.3 -1 reviewed p.E637* 1.000 437 0% 362 30.4% 10 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like TACC2 10579 genome.wustl.edu 37 10 123843318 123843318 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206862.2 +1 reviewed p.E435* 0.003 79 0% 70 18.6% 0 - - - - NULL TACC2 10579 genome.wustl.edu 37 10 123845364 123845364 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206862.2 +1 reviewed p.F1117V 0.000 41 0% 29 31% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL TACC2 10579 genome.wustl.edu 37 10 123845889 123845889 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206862.2 +1 reviewed p.A1292T 0.000 33 0% 32 21.9% 3 0% benign(0) tolerated(0.47) neutral(0.011) NULL TACC2 10579 genome.wustl.edu 37 10 123972884 123972884 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000368999 +1 known p.C515 1.000 228 0% 213 28.2% 2 50% - - - NULL BTBD16 118663 genome.wustl.edu 37 10 124057286 124057286 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144587.2 +1 validated p.C198 0.995 116 0.9% 92 18.5% 0 - - - - superfamily_POZ domain,HMMPfam_BTB HTRA1 5654 genome.wustl.edu 37 10 124266347 124266347 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002775.4 +1 reviewed p.E306D 0.997 35 0% 35 25.7% 122 5.7% probably_damaging(0.997) tolerated(0.14) deleterious(0.716) HMMPfam_Trypsin,superfamily_Pept_Ser_Cys HTRA1 5654 genome.wustl.edu 37 10 124273726 124273726 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002775.4 +1 reviewed p.D432N 1.000 415 0% 321 26.8% 143 4.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ DMBT1 1755 genome.wustl.edu 37 10 124399909 124399909 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007329.2 +1 reviewed p.V2303 0.982 74 0% 69 27.5% 0 - - - - HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1 CUZD1 50624 genome.wustl.edu 37 10 124600712 124600712 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022034.4 -1 provisional p.I72S 0.975 128 0% 84 34.5% 0 - possibly_damaging(0.485) deleterious(0) deleterious(0.606) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PSTK 118672 genome.wustl.edu 37 10 124742896 124742896 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153336.2 +1 validated p.G206E 0.000 112 0% 109 31.2% 10 50% benign(0) tolerated(1) - HMMPfam_KTI12,superfamily_P-loop containing nucleoside triphosphate hydrolases HMX2 3167 genome.wustl.edu 37 10 124909146 124909146 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005519.1 +1 provisional p.S110Y 0.983 20 0% 18 50% 0 - possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL GPR26 2849 genome.wustl.edu 37 10 125426230 125426230 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153442.3 +1 validated p.D103N 1.000 9 0.000 6 0.667 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 FAM53B 9679 genome.wustl.edu 37 10 126370681 126370681 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014661.3 -1 validated p.G134D 1.000 16 0% 10 40% 4 75% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL ADAM12 8038 genome.wustl.edu 37 10 127738231 127738231 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003474.4 -1 reviewed p.K542N 0.996 192 0% 211 33.2% 1 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_ADAM_CR,HMMSmart_SM00608 ADAM12 8038 genome.wustl.edu 37 10 127753529 127753529 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003474.4 -1 reviewed p.S488 1.000 19 0% 15 60% 1 0% - - - HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) C10orf90 118611 genome.wustl.edu 37 10 128149983 128149983 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004298.2 -1 validated p.S569Y 0.205 112 0% 73 31.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL DOCK1 1793 genome.wustl.edu 37 10 128904531 128904531 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398025 +1 known p.D807N 0.996 31 0% 34 32.4% 11 36.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL DOCK1 1793 genome.wustl.edu 37 10 128944352 128944352 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398025 +1 known p.K984T 0.002 31 0% 24 20.8% 0 - - - - NULL DOCK1 1793 genome.wustl.edu 37 10 129172452 129172452 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398025 +1 known p.R1262C 1.000 47 0% 40 20% 2 0% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL CLRN3 119467 genome.wustl.edu 37 10 129682028 129682028 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152311.3 -1 validated p.N114S 1.000 83 0% 61 31.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CLRN3 119467 genome.wustl.edu 37 10 129691031 129691031 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152311.3 -1 validated p.K6 0.206 181 0% 165 27.9% 0 - - - - NULL PTPRE 5791 genome.wustl.edu 37 10 129868685 129868685 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006504.4 +1 reviewed p.D422N 0.995 46 0% 43 27.9% 2 0% probably_damaging(0.973) tolerated(1) neutral(0.415) superfamily_(Phosphotyrosine protein) phosphatases II PTPRE 5791 genome.wustl.edu 37 10 129881133 129881133 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006504.4 +1 reviewed p.F689C 1.000 77 0% 42 23.8% 4 0% benign(0.033) tolerated(0.45) neutral(0.013) HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II MKI67 4288 genome.wustl.edu 37 10 129901214 129901214 + Missense_Mutation SNP G G A rs190782061 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002417.4 -1 reviewed p.R2964W 0.001 131 0% 136 30.1% 20 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MKI67 4288 genome.wustl.edu 37 10 129904724 129904724 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002417.4 -1 reviewed p.D1794Y 0.000 327 0.3% 446 30.3% 4 25% probably_damaging(0.99) deleterious(0.04) deleterious(0.790) HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129905984 129905984 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002417.4 -1 reviewed p.E1374K 0.000 350 0% 420 29.3% 13 53.8% benign(0) tolerated(0.86) neutral(0.001) HMMPfam_K167R EBF3 253738 genome.wustl.edu 37 10 131640400 131640400 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005463.1 -1 validated p.T442M 1.000 57 0% 48 41.7% 1 0% possibly_damaging(0.519) deleterious(0.05) deleterious(0.520) NULL EBF3 253738 genome.wustl.edu 37 10 131671849 131671849 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005463.1 -1 validated p.S216 1.000 58 0% 49 44.9% 0 - - - - NULL EBF3 253738 genome.wustl.edu 37 10 131676110 131676110 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005463.1 -1 validated p.F186L 1.000 39 0% 42 23.8% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL INPP5A 3632 genome.wustl.edu 37 10 134540339 134540339 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005539.3 +1 reviewed p.R221Q 1.000 28 0% 34 29.4% 15 40% probably_damaging(0.975) tolerated(0.58) neutral(0.422) HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos TTC40 54777 genome.wustl.edu 37 10 134646941 134646941 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000448925 -1 known p.S115L 0.000 140 0% 117 31.6% 0 - - - - NULL KNDC1 85442 genome.wustl.edu 37 10 134981792 134981792 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152643.6 +1 validated p.F112 0.987 72 0% 71 31% 0 - - - - HMMSmart_SM00750 KNDC1 85442 genome.wustl.edu 37 10 134997424 134997424 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152643.6 +1 validated p.R186C 0.987 40 0% 31 45.2% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00750 KNDC1 85442 genome.wustl.edu 37 10 135027549 135027549 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152643.6 +1 validated p.L1534M 1.000 48 0% 48 62.5% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF SYCE1 93426 genome.wustl.edu 37 10 135371687 135371687 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143764.1 -1 validated p.I101 1.000 57 0% 53 37.7% 0 - - - - NULL NLRP6 171389 genome.wustl.edu 37 11 280979 280979 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138329.1 +1 provisional p.T415 0.999 37 0% 31 25.8% 0 - - - - NULL ATHL1 80162 genome.wustl.edu 37 11 293486 293486 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000397660 +1 known p.S60L 1.000 33 0% 24 25% 10 10% - - - NULL TALDO1 6888 genome.wustl.edu 37 11 755887 755887 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006755.1 +1 reviewed p.E36K 0.996 60 0% 56 23.2% 343 46.6% benign(0) tolerated(0.93) - HMMPfam_Transaldolase,superfamily_SSF51569 TALDO1 6888 genome.wustl.edu 37 11 764325 764325 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006755.1 +1 reviewed p.E291D 1.000 43 0% 46 15.2% 657 10% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Transaldolase,superfamily_SSF51569 TALDO1 6888 genome.wustl.edu 37 11 764833 764833 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006755.1 +1 reviewed p.E334D 0.995 58 0% 52 26.9% 630 43.8% benign(0.032) deleterious(0.03) neutral(0.366) NULL MUC5B 727897 genome.wustl.edu 37 11 1262110 1262110 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002458.1 +1 validated p.V1337L 0.159 15 0% 11 36.4% 0 - benign(0.014) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1267158 1267158 + Silent SNP G G A rs139052978 byCluster;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002458.1 +1 validated p.P3019 0.000 74 0% 70 24.3% 3 33.3% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1267255 1267255 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002458.1 +1 validated p.T3052P 0.025 99 0% 81 18.5% 8 50% unknown(0) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1267354 1267354 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002458.1 +1 validated p.E3085* 0.088 104 0% 63 22.2% 2 0% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1271233 1271233 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002458.1 +1 validated p.A4378T 0.000 39 0% 43 32.6% 1 100% unknown(0) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1272412 1272412 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002458.1 +1 validated p.T4771A 0.013 67 0% 73 32.9% 11 63.6% unknown(0) - - NULL KRTAP5-5 439915 genome.wustl.edu 37 11 1651403 1651403 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001480.2 +1 validated p.S111 1.000 44 0% 39 46.2% 0 - - - - NULL LSP1 4046 genome.wustl.edu 37 11 1908081 1908081 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002339.2 +1 reviewed p.K279N 0.909 16 0% 18 50% 10 10% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL NAP1L4 4676 genome.wustl.edu 37 11 2997297 2997297 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005969.3 -1 reviewed p.R44* 0.996 172 0% 152 32.9% 48 2% - - - NULL CARS 833 genome.wustl.edu 37 11 3022407 3022407 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001014437.1 -1 reviewed p.F811 0.000 56 0% 37 43.2% 91 42.8% - - - NULL ZNF195 7748 genome.wustl.edu 37 11 3392855 3392855 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130520.1 -1 validated p.L28V 0.080 233 0% 167 34.1% 6 33.3% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) NUP98 4928 genome.wustl.edu 37 11 3716794 3716794 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016320.4 -1 reviewed p.S1351I 1.000 232 0% 246 27.6% 26 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL NUP98 4928 genome.wustl.edu 37 11 3720411 3720411 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016320.4 -1 reviewed p.E1304* 1.000 390 0% 375 26.9% 22 0% - - - NULL NUP98 4928 genome.wustl.edu 37 11 3744491 3744491 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016320.4 -1 reviewed p.R681Q 0.996 163 0% 162 30.9% 18 72.2% possibly_damaging(0.78) tolerated(0.35) neutral(0.312) NULL RRM1 6240 genome.wustl.edu 37 11 4142895 4142895 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033.3 +1 reviewed p.D313G 1.000 208 0% 196 34.7% 49 44.8% benign(0.038) deleterious(0) neutral(0.447) HMMPfam_Ribonuc_red_lgC,superfamily_SSF51998 RRM1 6240 genome.wustl.edu 37 11 4159538 4159538 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033.3 +1 reviewed p.E768D 1.000 101 0% 55 23.6% 126 46% benign(0) tolerated(0.53) neutral(0.007) NULL OR52M1 119772 genome.wustl.edu 37 11 4566853 4566853 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004137.1 +1 validated p.R145C 0.001 224 0% 228 31.6% 0 - probably_damaging(0.968) tolerated(0.08) deleterious(0.710) HMMPfam_7tm_1,superfamily_SSF81321 C11orf40 143501 genome.wustl.edu 37 11 4594609 4594609 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144663.1 -1 provisional p.P79T 0.001 121 0% 128 35.2% 0 - unknown(0) - - NULL OR52I2 143502 genome.wustl.edu 37 11 4608359 4608359 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005170.2 +1 validated p.S106L 0.000 442 0% 489 26% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR51D1 390038 genome.wustl.edu 37 11 4661817 4661817 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004751.2 +1 validated p.V266A 0.931 382 0% 375 27.2% 0 - possibly_damaging(0.484) deleterious(0.02) deleterious(0.543) HMMPfam_7tm_1,superfamily_SSF81321 OR51E1 143503 genome.wustl.edu 37 11 4674676 4674676 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152430.3 +1 validated p.R307Q 0.999 596 0% 449 13.6% 7 0% benign(0.088) tolerated(0.36) neutral(0.026) superfamily_Family A G protein-coupled receptor-like OR51E2 81285 genome.wustl.edu 37 11 4703152 4703152 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030774.3 -1 validated p.G264* 0.581 123 0% 139 36% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52R1 119695 genome.wustl.edu 37 11 4825628 4825628 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005177.3 -1 validated p.D74Y 0.000 168 0% 210 27.6% 0 - possibly_damaging(0.47) deleterious(0) deleterious(0.600) superfamily_Family A G protein-coupled receptor-like OR51S1 119692 genome.wustl.edu 37 11 4869808 4869808 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004758.1 -1 provisional p.L211I 0.011 258 0% 225 14.2% 0 - benign(0.203) tolerated(0.97) neutral(0.019) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51S1 119692 genome.wustl.edu 37 11 4869967 4869967 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004758.1 -1 provisional p.F158V 0.000 197 0% 205 13.7% 0 - benign(0.273) tolerated(0.78) neutral(0.030) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51T1 401665 genome.wustl.edu 37 11 4903081 4903081 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004759.1 +1 provisional p.K11 0.000 229 0% 219 32% 0 - - - - NULL OR51A7 119687 genome.wustl.edu 37 11 4929436 4929436 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004749.1 +1 provisional p.F279L 0.115 293 0% 242 36.8% 0 - benign(0.006) deleterious(0.03) neutral(0.364) HMMPfam_7tm_1,superfamily_SSF81321 OR51G1 79324 genome.wustl.edu 37 11 4944787 4944787 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005237.1 -1 provisional p.S261 0.030 117 0% 124 33.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR51G1 79324 genome.wustl.edu 37 11 4945148 4945148 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005237.1 -1 provisional p.A141E 0.000 76 0% 90 36.7% 0 - benign(0.062) tolerated(0.37) neutral(0.023) HMMPfam_7tm_1,superfamily_SSF81321 OR51A4 401666 genome.wustl.edu 37 11 4968260 4968260 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005329.1 -1 provisional p.Y24C 0.000 278 0.4% 201 34.3% 0 - possibly_damaging(0.827) tolerated(0.07) deleterious(0.633) superfamily_SSF81321 OR51A2 401667 genome.wustl.edu 37 11 4976617 4976617 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004748.1 -1 provisional p.F109L 0.529 600 0% 608 28.9% 0 - probably_damaging(0.999) tolerated(0.24) deleterious(0.528) HMMPfam_7tm_1,superfamily_SSF81321 MMP26 56547 genome.wustl.edu 37 11 5009523 5009523 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021801.3 +1 reviewed p.G28* 0.902 169 0% 146 27.4% 0 - - - - NULL MMP26 56547 genome.wustl.edu 37 11 5013208 5013208 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021801.3 +1 reviewed p.L204M 1.000 121 0% 104 22.1% 0 - possibly_damaging(0.592) deleterious(0.04) deleterious(0.553) HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_SSF55486 OR52E2 119678 genome.wustl.edu 37 11 5079921 5079921 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005164.2 -1 validated p.G313* 0.000 170 0% 149 33.6% 0 - - - - NULL OR52E2 119678 genome.wustl.edu 37 11 5080348 5080348 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005164.2 -1 validated p.F170L 0.962 125 0% 145 36.6% 0 - probably_damaging(0.995) tolerated(0.08) deleterious(0.758) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52E2 119678 genome.wustl.edu 37 11 5080600 5080600 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005164.2 -1 validated p.I86 0.816 126 0% 149 32.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52A4 390053 genome.wustl.edu 37 11 5142169 5142169 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005222.2 -1 validated p.L214F 0.000 272 0% 228 24.1% 0 - benign(0.009) tolerated(0.76) neutral(0.002) HMMPfam_7tm_1,superfamily_SSF81321 OR51V1 283111 genome.wustl.edu 37 11 5221034 5221034 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004760.2 -1 validated p.I299 0.022 114 0% 75 30.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51V1 283111 genome.wustl.edu 37 11 5221851 5221851 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004760.2 -1 validated p.S27Y 0.965 239 0% 187 27.3% 0 - unknown(0) deleterious(0) - superfamily_Family A G protein-coupled receptor-like OR51B4 79339 genome.wustl.edu 37 11 5322591 5322591 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033179.2 -1 validated p.P196S 0.800 192 0% 174 33.9% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51B2 79345 genome.wustl.edu 37 11 5345261 5345261 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033180.4 -1 validated p.E89D 0.279 181 0% 176 26.7% 0 - probably_damaging(0.987) deleterious(0.05) deleterious(0.782) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51I1 390063 genome.wustl.edu 37 11 5462184 5462184 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005288.2 -1 validated p.M187I 0.877 180 0% 163 32.5% 0 - probably_damaging(0.953) tolerated(0.86) neutral(0.397) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51I2 390064 genome.wustl.edu 37 11 5475036 5475036 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004754.2 +1 validated p.F106L 0.965 257 0% 267 29.2% 0 - benign(0.088) tolerated(0.68) neutral(0.009) HMMPfam_7tm_1,superfamily_SSF81321 OR52D1 390066 genome.wustl.edu 37 11 5510620 5510620 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005163.2 +1 validated p.V228 0.007 365 0% 314 29.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52H1 390067 genome.wustl.edu 37 11 5566581 5566581 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005289.1 -1 provisional p.V58A 0.000 254 0% 332 24.1% 0 - benign(0) tolerated(0.58) neutral(0.005) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5626739 5626739 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003819.2 +1 reviewed p.R259Q 0.025 177 0% 206 30.6% 0 - possibly_damaging(0.855) tolerated(0.3) neutral(0.359) NULL TRIM6 117854 genome.wustl.edu 37 11 5631362 5631362 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000380090 +1 known p.P228H 0.000 158 0% 179 9.5% 0 - - - - NULL TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5655976 5655976 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003819.2 +1 reviewed p.T566M 0.000 123 0% 148 11.5% 1 0% possibly_damaging(0.925) tolerated(0.1) deleterious(0.660) NULL TRIM5 85363 genome.wustl.edu 37 11 5686353 5686353 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033034.2 -1 reviewed p.N390H 0.000 481 0% 519 31.6% 7 28.5% probably_damaging(0.995) tolerated(0.5) neutral(0.468) HMMPfam_SPRY,HMMSmart_SM00449 TRIM22 10346 genome.wustl.edu 37 11 5717876 5717876 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000414897 +1 known p.G49* 0.002 118 0% 101 14.9% 2 0% possibly_damaging(0.661) deleterious(0.01) deleterious(0.639) NULL TRIM22 10346 genome.wustl.edu 37 11 5719582 5719582 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006074.3 +1 reviewed p.G186E 0.000 132 0% 106 27.4% 5 0% benign(0.001) tolerated(1) - NULL OR52N1 79473 genome.wustl.edu 37 11 5809100 5809100 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001913.1 -1 provisional p.N316T 0.000 154 0% 121 57% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL OR52N1 79473 genome.wustl.edu 37 11 5809845 5809845 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001913.1 -1 provisional p.L68F 1.000 136 0% 165 38.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_7tm_1,superfamily_SSF81321 OR52E6 390078 genome.wustl.edu 37 11 5863044 5863044 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005167.1 -1 provisional p.W28* 0.993 478 0% 392 26.5% 0 - - - - superfamily_SSF81321 OR56A1 120796 genome.wustl.edu 37 11 6048700 6048700 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001917.2 -1 validated p.V79M 0.112 288 0% 271 27.3% 0 - benign(0.342) tolerated(0.1) neutral(0.394) HMMPfam_7tm_1,superfamily_SSF81321 OR52W1 120787 genome.wustl.edu 37 11 6220520 6220520 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005178.1 +1 provisional p.P23S 1.000 262 0% 162 30.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF81321 C11orf42 160298 genome.wustl.edu 37 11 6232257 6232257 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173525.2 +1 validated p.F329 1.000 106 0% 75 34.7% 0 - - - - NULL SMPD1 6609 genome.wustl.edu 37 11 6412930 6412930 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000543.3 +1 reviewed p.D212G 1.000 71 0% 41 34.1% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases SMPD1 6609 genome.wustl.edu 37 11 6414911 6414911 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000543.3 +1 reviewed p.R443Q 0.993 153 0% 86 24.4% 9 11.1% possibly_damaging(0.782) tolerated(0.2) neutral(0.342) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases TRIM3 10612 genome.wustl.edu 37 11 6470405 6470405 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006458.2 -1 reviewed p.F696 1.000 83 0% 94 29.8% 2 50% - - - HMMPfam_NHL,superfamily_NHL repeat DCHS1 8642 genome.wustl.edu 37 11 6646657 6646657 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003737.2 -1 reviewed p.G2306 1.000 118 0% 69 23.2% 2 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6653362 6653362 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003737.2 -1 reviewed p.V1127 0.181 40 0% 42 26.2% 1 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6662314 6662314 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003737.2 -1 reviewed p.T177 0.999 64 0% 64 21.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin OR10A5 144124 genome.wustl.edu 37 11 6867712 6867712 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178168.1 +1 provisional p.N267H 0.996 369 0% 318 28% 0 - possibly_damaging(0.818) tolerated(1) neutral(0.309) HMMPfam_7tm_1,superfamily_SSF81321 OR2D3 120775 genome.wustl.edu 37 11 6942866 6942866 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004684.1 +1 provisional p.E212K 0.066 158 0% 187 15.5% 0 - possibly_damaging(0.683) tolerated(0.06) deleterious(0.566) HMMPfam_7tm_1,superfamily_SSF81321 ZNF214 7761 genome.wustl.edu 37 11 7021799 7021799 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013249.2 -1 validated p.V372A 0.896 220 0% 242 31% 0 - benign(0.012) tolerated(0.81) neutral(0.001) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF214 7761 genome.wustl.edu 37 11 7021924 7021924 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013249.2 -1 validated p.F330L 0.946 228 0% 229 34.5% 0 - benign(0) tolerated(1) - superfamily_C2H2 and C2HC zinc fingers ZNF214 7761 genome.wustl.edu 37 11 7024014 7024014 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013249.2 -1 validated p.K18T 0.641 202 0% 179 26.3% 0 - benign(0.039) tolerated(0.47) neutral(0.013) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) NLRP14 338323 genome.wustl.edu 37 11 7064851 7064851 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176822.3 +1 reviewed p.L532V 1.000 188 0% 180 27.8% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL NLRP14 338323 genome.wustl.edu 37 11 7064860 7064860 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176822.3 +1 reviewed p.L535I 0.998 185 0% 172 33.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP14 338323 genome.wustl.edu 37 11 7065060 7065060 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176822.3 +1 reviewed p.C601 0.014 235 0% 202 31.2% 0 - - - - NULL NLRP14 338323 genome.wustl.edu 37 11 7067961 7067961 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176822.3 +1 reviewed p.H674R 0.020 311 0% 244 31.6% 0 - benign(0.045) tolerated(0.44) neutral(0.015) superfamily_SSF52047 NLRP14 338323 genome.wustl.edu 37 11 7083723 7083723 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176822.3 +1 reviewed p.I988 0.993 241 0.4% 184 25.5% 0 - - - - superfamily_SSF52047 SYT9 143425 genome.wustl.edu 37 11 7335165 7335165 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175733.3 +1 validated p.V346A 1.000 122 0% 134 33.6% 0 - benign(0.005) tolerated(1) - NULL OLFML1 283298 genome.wustl.edu 37 11 7509512 7509512 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198474.3 +1 validated p.A95V 1.000 212 0% 191 25.1% 4 0% possibly_damaging(0.761) tolerated(1) neutral(0.282) NULL PPFIBP2 8495 genome.wustl.edu 37 11 7674305 7674305 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003621.2 +1 validated p.F829 0.547 224 0% 128 60.2% 36 91.6% - - - NULL CYB5R2 51700 genome.wustl.edu 37 11 7687716 7687716 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016229.3 -1 validated p.F208 0.657 115 0% 50 32% 5 0% - - - HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain OVCH2 341277 genome.wustl.edu 37 11 7727865 7727865 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198185.2 -1 validated p.S26L 0.005 20 0% 21 28.6% 0 - benign(0.022) deleterious(0.03) neutral(0.365) NULL OR5P3 120066 genome.wustl.edu 37 11 7847417 7847417 + Frame_Shift_Del DEL A A - novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153445.1 -1 provisional p.Y35fs 0.864 - - - - - - - - - superfamily_SSF81321 OR10A3 26496 genome.wustl.edu 37 11 7960728 7960728 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003745.1 -1 provisional p.L114I 1.000 497 0% 505 32.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like NLRP10 338322 genome.wustl.edu 37 11 7981621 7981621 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176821.3 -1 reviewed p.T513I 0.000 169 0% 190 28.4% 0 - possibly_damaging(0.902) tolerated(0.06) deleterious(0.679) NULL TUB 7275 genome.wustl.edu 37 11 8060462 8060462 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003320.4 +1 reviewed p.F14L 0.042 326 0% 266 27.8% 0 - benign(0) - - NULL TUB 7275 genome.wustl.edu 37 11 8122080 8122080 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003320.4 +1 reviewed p.R438W 1.000 126 0% 162 26.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tub,superfamily_Tubby_C RIC3 79608 genome.wustl.edu 37 11 8132295 8132295 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024557.3 -1 validated p.A353T 0.010 248 0% 227 23.3% 0 - benign(0.001) tolerated(0.54) neutral(0.007) NULL STK33 65975 genome.wustl.edu 37 11 8479004 8479004 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030906.2 -1 validated p.L194P 1.000 207 0% 158 29.1% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DENND5A 23258 genome.wustl.edu 37 11 9164378 9164378 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015213.2 -1 validated p.T1134 0.005 124 0% 124 29.8% 25 24% - - - NULL DENND5A 23258 genome.wustl.edu 37 11 9200415 9200415 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015213.2 -1 validated p.N554T 1.000 234 0% 165 27.3% 13 23% probably_damaging(0.957) tolerated(0.09) deleterious(0.697) HMMPfam_dDENN,HMMSmart_SM00801 DENND5A 23258 genome.wustl.edu 37 11 9200560 9200560 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015213.2 -1 validated p.E506* 1.000 257 0% 241 16.2% 11 0% - - - NULL SBF2 81846 genome.wustl.edu 37 11 9830499 9830499 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030962.3 -1 reviewed p.N1402K 0.992 92 0% 103 33% 7 42.8% benign(0.167) deleterious(0.03) neutral(0.380) superfamily_(Phosphotyrosine protein) phosphatases II SBF2 81846 genome.wustl.edu 37 11 9834221 9834221 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030962.3 -1 reviewed p.F1338C 1.000 157 0% 151 37.1% 3 33.3% possibly_damaging(0.871) deleterious(0) deleterious(0.783) superfamily_(Phosphotyrosine protein) phosphatases II SBF2 81846 genome.wustl.edu 37 11 9871600 9871600 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030962.3 -1 reviewed p.L926I 1.000 211 0% 249 14.9% 1 100% benign(0) tolerated(1) - HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like SBF2 81846 genome.wustl.edu 37 11 9874240 9874240 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030962.3 -1 reviewed p.L865V 1.000 189 0% 165 26.7% 3 33.3% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL LYVE1 10894 genome.wustl.edu 37 11 10585864 10585864 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006691.3 -1 reviewed p.A48V 0.000 185 0% 156 23.1% 1 0% benign(0) tolerated(0.28) neutral(0.032) HMMSmart_SM00445,superfamily_C-type lectin-like MRVI1 10335 genome.wustl.edu 37 11 10622516 10622516 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098579.1 -1 reviewed p.E647K 1.000 114 0% 88 27.3% 5 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_MRVI1 MRVI1 10335 genome.wustl.edu 37 11 10624779 10624779 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098579.1 -1 reviewed p.H579R 1.000 31 0% 25 28% 2 0% benign(0.335) tolerated(0.09) neutral(0.402) HMMPfam_MRVI1 MICAL2 9645 genome.wustl.edu 37 11 12231083 12231083 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014632.2 +1 provisional p.S210Y 0.811 217 0% 202 22.3% 6 16.6% benign(0) tolerated(0.06) neutral(0.323) superfamily_FAD/NAD(P)-binding domain MICALCL 84953 genome.wustl.edu 37 11 12315811 12315811 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032867.2 +1 validated p.R278Q 0.418 223 0% 174 29.3% 1 0% possibly_damaging(0.938) deleterious(0.04) deleterious(0.732) NULL TEAD1 7003 genome.wustl.edu 37 11 12901314 12901314 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021961.5 +1 reviewed p.I115 0.999 114 0% 74 31.1% 4 25% - - - HMMPfam_TEA ARNTL 406 genome.wustl.edu 37 11 13378308 13378308 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001030272.1 +1 reviewed p.D55Y 1.000 239 0% 139 29.5% 3 66.6% possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL ARNTL 406 genome.wustl.edu 37 11 13393796 13393796 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001030272.1 +1 reviewed p.E302K 1.000 191 0% 201 28.9% 4 0% possibly_damaging(0.466) tolerated(0.18) neutral(0.209) NULL BTBD10 84280 genome.wustl.edu 37 11 13424771 13424771 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032320.5 -1 validated p.V354A 1.000 600 0% 431 26.7% 30 50% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL FAR1 84188 genome.wustl.edu 37 11 13743367 13743367 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032228.5 +1 validated p.V406 1.000 97 0% 106 31.1% 18 33.3% - - - HMMPfam_Sterile CYP2R1 120227 genome.wustl.edu 37 11 14907335 14907335 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024514.4 -1 reviewed p.M118I 1.000 118 0% 90 31.1% 4 50% possibly_damaging(0.784) deleterious(0.03) deleterious(0.658) HMMPfam_p450,superfamily_Cytochrome_P450 PLEKHA7 144100 genome.wustl.edu 37 11 16811401 16811401 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175058.4 -1 validated p.L1026P 1.000 14 0% 24 37.5% 12 33.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL PIK3C2A 5286 genome.wustl.edu 37 11 17134130 17134130 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002645.2 -1 validated p.V1135 0.998 202 0% 182 26.4% 3 0% - - - HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) NUCB2 4925 genome.wustl.edu 37 11 17332456 17332456 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005013.2 +1 validated p.E190* 1.000 271 0% 221 25.8% 11 0% - - - NULL ABCC8 6833 genome.wustl.edu 37 11 17474821 17474821 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000352.3 -1 reviewed p.L341I 0.994 90 0% 72 41.7% 0 - benign(0.003) tolerated(0.36) neutral(0.020) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain USH1C 10083 genome.wustl.edu 37 11 17544987 17544987 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153676.3 -1 reviewed p.F266L 1.000 104 0% 80 28.7% 2 0% probably_damaging(0.989) tolerated(0.37) neutral(0.459) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ MYOD1 4654 genome.wustl.edu 37 11 17741357 17741357 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002478.4 +1 reviewed p.D10N 1.000 65 0% 23 17.4% 0 - possibly_damaging(0.806) deleterious(0) deleterious(0.748) HMMPfam_Basic,HMMSmart_BASIC KCNC1 3746 genome.wustl.edu 37 11 17794059 17794059 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001112741.1 +1 reviewed p.K473T 1.000 219 0% 209 28.7% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL SERGEF 26297 genome.wustl.edu 37 11 17809945 17809945 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012139.2 -1 validated p.S355Y 1.000 88 0% 72 26.4% 26 23% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_RCC1/BLIP-II SERGEF 26297 genome.wustl.edu 37 11 17981098 17981098 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012139.2 -1 validated p.E310D 0.000 141 0.7% 187 30.5% 17 58.8% benign(0) tolerated(0.57) neutral(0.006) superfamily_RCC1/BLIP-II SERGEF 26297 genome.wustl.edu 37 11 18010268 18010268 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012139.2 -1 validated p.K240 0.996 142 0% 102 9.8% 25 12% - - - superfamily_RCC1/BLIP-II SERGEF 26297 genome.wustl.edu 37 11 18017455 18017455 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012139.2 -1 validated p.A170 0.230 99 0% 98 31.6% 15 40% - - - superfamily_RCC1/BLIP-II TPH1 7166 genome.wustl.edu 37 11 18047155 18047155 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004179.2 -1 reviewed p.G299 0.992 145 0% 157 29.9% 0 - - - - HMMPfam_Biopterin_H,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains TPH1 7166 genome.wustl.edu 37 11 18051095 18051095 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004179.2 -1 reviewed p.R145Q 1.000 126 0% 110 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Biopterin_H,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains MRGPRX3 117195 genome.wustl.edu 37 11 18158835 18158835 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_054031.3 +1 reviewed p.S29N 0.192 231 0% 209 34.4% 0 - benign(0.215) tolerated(0.24) neutral(0.058) superfamily_Family A G protein-coupled receptor-like MRGPRX3 117195 genome.wustl.edu 37 11 18159457 18159457 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_054031.3 +1 reviewed p.W236C 0.001 128 0% 127 29.1% 0 - benign(0.06) tolerated(0.08) neutral(0.304) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MRGPRX3 117195 genome.wustl.edu 37 11 18159596 18159596 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_054031.3 +1 reviewed p.N283H 0.000 161 0% 155 25.8% 0 - possibly_damaging(0.795) tolerated(0.11) deleterious(0.570) superfamily_Family A G protein-coupled receptor-like MRGPRX4 117196 genome.wustl.edu 37 11 18195505 18195505 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_054032.3 +1 validated p.I234M 0.002 105 0% 98 27.6% 0 - possibly_damaging(0.705) deleterious(0) deleterious(0.699) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ENSG00000189332 0 genome.wustl.edu 37 11 18231531 18231531 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000340135 +1 known p.T106M 1.000 100 0% 81 30.9% 0 - benign(0.01) tolerated(1) neutral(0.001) superfamily_Mitochondrial carrier SAA4 6291 genome.wustl.edu 37 11 18253180 18253180 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006512.2 -1 validated p.D88Y 0.000 225 0% 211 29.9% 0 - benign(0) tolerated(0.09) neutral(0.296) HMMPfam_SAA,HMMSmart_SM00197 ST13P5 144106 genome.wustl.edu 37 11 18284064 18284064 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000391478 +1 known p.P179L 1.000 258 0% 308 29.9% 73 0% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 HPS5 11234 genome.wustl.edu 37 11 18320415 18320415 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181507.1 -1 reviewed p.R363H 1.000 262 0% 199 34.2% 3 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL LDHAL6A 160287 genome.wustl.edu 37 11 18497130 18497130 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144071.1 +1 validated p.G179D 0.862 134 0% 121 24% 0 - benign(0.266) tolerated(0.39) neutral(0.044) HMMPfam_Ldh_1_C,superfamily_Lactate_DH/Glyco_hydro_4_C LDHAL6A 160287 genome.wustl.edu 37 11 18499251 18499251 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144071.1 +1 validated p.K265N 1.000 155 0% 132 28.8% 0 - probably_damaging(0.996) tolerated(0.12) deleterious(0.722) HMMPfam_Ldh_1_C,superfamily_Lactate_DH/Glyco_hydro_4_C SPTY2D1 144108 genome.wustl.edu 37 11 18636919 18636919 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194285.2 -1 validated p.R301H 0.039 180 0% 153 37.3% 9 33.3% benign(0.003) tolerated(0.32) neutral(0.024) NULL TMEM86A 144110 genome.wustl.edu 37 11 18722737 18722737 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153347.1 +1 provisional p.F93 0.967 131 0% 103 36.9% 1 0% - - - HMMPfam_YhhN TMEM86A 144110 genome.wustl.edu 37 11 18723508 18723508 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153347.1 +1 provisional p.V225 0.002 98 0% 96 36.5% 4 0% - - - NULL MRGPRX1 259249 genome.wustl.edu 37 11 18978441 18978441 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000433222 -1 known p.V40 0.068 82 0% 83 39.8% 0 - - - - superfamily_Family A G protein-coupled receptor-like ZDHHC13 54503 genome.wustl.edu 37 11 19164615 19164615 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019028.2 +1 validated p.E40* 0.998 95 0% 77 26% 7 14.2% - - - superfamily_Ankyrin repeat ZDHHC13 54503 genome.wustl.edu 37 11 19174179 19174179 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019028.2 +1 validated p.K274T 1.000 258 0% 194 26.8% 8 50% benign(0.023) tolerated(0.35) neutral(0.022) HMMSmart_SM00248 ZDHHC13 54503 genome.wustl.edu 37 11 19185873 19185873 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019028.2 +1 validated p.G420D 1.000 82 0% 98 36.7% 16 43.7% possibly_damaging(0.493) tolerated(0.5) neutral(0.175) HMMPfam_zf-DHHC CSRP3 8048 genome.wustl.edu 37 11 19206520 19206520 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127656.1 -1 reviewed p.D163Y 1.000 138 0% 86 24.4% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) CSRP3 8048 genome.wustl.edu 37 11 19207823 19207823 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127656.1 -1 reviewed p.E118D 1.000 185 0% 104 26% 2 0% benign(0) tolerated(0.47) neutral(0.011) superfamily_Glucocorticoid receptor-like (DNA-binding domain) NAV2 89797 genome.wustl.edu 37 11 20066702 20066702 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182964.5 +1 validated p.A1130T 0.018 183 0% 176 30.1% 6 50% benign(0.013) tolerated(0.46) neutral(0.013) NULL NAV2 89797 genome.wustl.edu 37 11 20112500 20112500 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182964.5 +1 validated p.R1866H 1.000 165 0% 119 35.3% 19 21% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100289464 100289464 genome.wustl.edu 37 11 20136088 20136088 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343052.1 -1 model p.L148 0.000 19 0% 16 50% 0 - - - - NULL DBX1 120237 genome.wustl.edu 37 11 20180780 20180780 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029865.1 -1 provisional p.F142 0.977 185 0% 135 31.1% 0 - - - - NULL HTATIP2 10553 genome.wustl.edu 37 11 20385887 20385887 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098520.1 +1 validated p.L69S 0.987 84 0% 76 35.5% 20 25% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_NAD(P)-binding Rossmann-fold domains PRMT3 10196 genome.wustl.edu 37 11 20411320 20411320 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145166.1 +1 validated p.H20R 0.983 84 0% 53 35.8% 2 100% benign(0.202) - - NULL LOC645490 645490 genome.wustl.edu 37 11 20596568 20596568 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_928515.4 +1 model p.E344* 1.000 74 0% 90 35.6% 0 - - - - NULL SLC6A5 9152 genome.wustl.edu 37 11 20658730 20658730 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004211.3 +1 reviewed p.E584K 1.000 208 0% 156 24.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF NELL1 4745 genome.wustl.edu 37 11 20948913 20948913 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006157.3 +1 reviewed p.C273 1.000 98 0% 119 34.5% 0 - - - - HMMPfam_VWC,HMMSmart_SM00214,HMMSmart_SM00215 NELL1 4745 genome.wustl.edu 37 11 20968900 20968900 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006157.3 +1 reviewed p.I364L 1.000 338 0% 278 29.1% 0 - benign(0.001) tolerated(0.46) neutral(0.012) HMMSmart_SM00214 ANO5 203859 genome.wustl.edu 37 11 22225380 22225380 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_213599.2 +1 reviewed p.S24Y 0.000 72 0% 59 25.4% 0 - benign(0.006) deleterious(0.01) neutral(0.406) NULL ANO5 203859 genome.wustl.edu 37 11 22249128 22249128 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_213599.2 +1 reviewed p.R215I 1.000 289 0% 263 30.4% 0 - possibly_damaging(0.84) deleterious(0.03) deleterious(0.686) NULL ANO5 203859 genome.wustl.edu 37 11 22281250 22281250 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_213599.2 +1 reviewed p.F531 1.000 135 0% 118 33.1% 0 - - - - NULL GAS2 2620 genome.wustl.edu 37 11 22747869 22747869 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143830.1 +1 reviewed p.T100S 1.000 219 0% 167 27.5% 0 - benign(0) tolerated(0.72) neutral(0.002) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain GAS2 2620 genome.wustl.edu 37 11 22833502 22833502 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143830.1 +1 reviewed p.M294I 1.000 192 0% 208 29.3% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL SVIP 258010 genome.wustl.edu 37 11 22848820 22848820 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_148893.1 -1 provisional p.R51I 0.999 366 0% 260 16.2% 48 20.8% benign(0.17) deleterious(0.02) neutral(0.399) NULL LUZP2 338645 genome.wustl.edu 37 11 24750754 24750754 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009909.2 +1 validated p.V34 0.844 145 0% 110 30.9% 0 - - - - NULL MUC15 143662 genome.wustl.edu 37 11 26584689 26584689 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135091.1 -1 validated p.R300Q 1.000 230 0% 177 27.1% 0 - unknown(0) deleterious(0) - NULL MUC15 143662 genome.wustl.edu 37 11 26587300 26587300 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135091.1 -1 validated p.A63T 0.000 147 0% 129 24.8% 0 - possibly_damaging(0.507) tolerated(0.33) neutral(0.194) NULL ANO3 63982 genome.wustl.edu 37 11 26620414 26620414 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031418.2 +1 validated p.R514C 1.000 92 0% 86 31.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANO3 63982 genome.wustl.edu 37 11 26660717 26660717 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031418.2 +1 validated p.D690 1.000 159 0% 119 30.3% 1 0% - - - NULL BDNF 627 genome.wustl.edu 37 11 27679961 27679961 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143810.1 -1 reviewed p.A133T 1.000 222 0% 180 28.3% 2 100% benign(0.003) tolerated(0.34) neutral(0.023) NULL KIF18A 81930 genome.wustl.edu 37 11 28045359 28045359 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031217.3 -1 validated p.S848Y 0.144 125 0% 76 13.2% 20 20% benign(0.005) deleterious(0.03) neutral(0.364) NULL KCNA4 3739 genome.wustl.edu 37 11 30033130 30033130 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002233.2 -1 reviewed p.I366V 0.535 302 0% 369 30.4% 0 - benign(0.002) tolerated(0.55) neutral(0.007) superfamily_Voltage-gated potassium channels KCNA4 3739 genome.wustl.edu 37 11 30033350 30033350 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002233.2 -1 reviewed p.Q292H 1.000 277 0% 364 30.8% 0 - benign(0.018) deleterious(0.03) neutral(0.365) NULL DCDC5 100506627 genome.wustl.edu 37 11 30938451 30938451 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343054.1 -1 model p.L338F 0.019 88 0% 94 34% 0 - benign(0.005) tolerated(0.06) neutral(0.323) NULL DCDC1 341019 genome.wustl.edu 37 11 31312310 31312310 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181807.2 -1 validated p.L282I 1.000 140 0% 122 36.1% 0 - probably_damaging(0.981) tolerated(0.18) deleterious(0.481) superfamily_SSF89837 DNAJC24 120526 genome.wustl.edu 37 11 31436446 31436446 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181706.4 +1 validated p.K67T 1.000 106 0% 73 42.5% 4 25% possibly_damaging(0.932) deleterious(0.02) deleterious(0.762) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain CCDC73 493860 genome.wustl.edu 37 11 32636285 32636285 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008391.2 -1 validated p.G527* 0.014 121 0% 121 24% 0 - - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32637592 32637592 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008391.2 -1 validated p.E423D 0.416 75 0% 80 40% 0 - benign(0.072) tolerated(0.34) neutral(0.028) NULL QSER1 79832 genome.wustl.edu 37 11 32954118 32954118 + Nonsense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001076786.1 +1 provisional p.Y309* 1.000 312 0% 224 26.8% 1 0% - - - NULL QSER1 79832 genome.wustl.edu 37 11 32954911 32954911 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001076786.1 +1 provisional p.P574S 0.999 238 0.4% 198 28.3% 1 0% benign(0) tolerated(0.71) neutral(0.002) NULL DEPDC7 91614 genome.wustl.edu 37 11 33047356 33047356 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077242.1 +1 validated p.I75 0.998 131 0% 142 33.1% 0 - - - - "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" DEPDC7 91614 genome.wustl.edu 37 11 33047572 33047572 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077242.1 +1 validated p.E147D 0.990 89 0% 80 36.2% 0 - benign(0.014) tolerated(0.26) neutral(0.035) "superfamily_""Winged helix"" DNA-binding domain" CSTF3 1479 genome.wustl.edu 37 11 33129510 33129510 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001326.2 -1 reviewed p.D99N 1.000 58 0% 54 37% 6 0% probably_damaging(0.996) tolerated(0.12) deleterious(0.722) HMMSmart_SM00386,superfamily_TPR-like HIPK3 10114 genome.wustl.edu 37 11 33308982 33308982 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005734.3 +1 validated p.K341T 1.000 288 0% 287 29.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HIPK3 10114 genome.wustl.edu 37 11 33358624 33358624 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005734.3 +1 validated p.R409* 1.000 214 0% 128 32% 4 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C11orf41 25758 genome.wustl.edu 37 11 33565500 33565500 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012194.1 +1 validated p.S500 0.087 282 0% 297 29.3% 0 - - - - NULL C11orf41 25758 genome.wustl.edu 37 11 33566508 33566508 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012194.1 +1 validated p.A699V 0.001 113 0% 130 33.8% 0 - possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) NULL C11orf41 25758 genome.wustl.edu 37 11 33682431 33682431 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012194.1 +1 validated p.F1719 0.994 47 0% 54 33.3% 1 0% - - - NULL NAT10 55226 genome.wustl.edu 37 11 34145924 34145924 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024662.2 +1 validated p.R362* 1.000 168 0% 159 29.6% 12 0% - - - HMMPfam_DUF699 NAT10 55226 genome.wustl.edu 37 11 34154665 34154665 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024662.2 +1 validated p.L570 0.999 155 0% 144 31.2% 17 11.7% - - - NULL PDHX 8050 genome.wustl.edu 37 11 35006231 35006231 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003477.2 +1 reviewed p.D380Y 1.000 227 0% 219 34.7% 40 40% possibly_damaging(0.822) deleterious(0) deleterious(0.756) HMMPfam_2-oxoacid_dh,superfamily_SSF52777 CD44 960 genome.wustl.edu 37 11 35226171 35226171 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000428726 +1 known p.R400Q 0.037 129 0% 115 29.6% 3 33.3% - - - NULL SLC1A2 6506 genome.wustl.edu 37 11 35327698 35327698 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004171.3 -1 reviewed p.T218I 0.992 143 0% 145 18.6% 0 - benign(0.412) tolerated(0.06) neutral(0.456) HMMPfam_SDF SLC1A2 6506 genome.wustl.edu 37 11 35338953 35338953 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004171.3 -1 reviewed p.K43T 1.000 253 0% 248 26.2% 1 0% benign(0.002) tolerated(0.17) neutral(0.059) NULL TRIM44 54765 genome.wustl.edu 37 11 35684884 35684884 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017583.4 +1 reviewed p.G75 0.000 44 0% 43 27.9% 4 0% - - - NULL COMMD9 29099 genome.wustl.edu 37 11 36302375 36302375 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014186.3 -1 validated p.D22Y 1.000 198 0% 201 31.3% 45 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCaRG TRAF6 7189 genome.wustl.edu 37 11 36511654 36511654 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004620.2 -1 reviewed p.L435I 1.000 363 0% 315 32.1% 5 60% possibly_damaging(0.855) tolerated(0.08) deleterious(0.630) HMMPfam_MATH,HMMSmart_MATH,superfamily_Traf_like RAG1 5896 genome.wustl.edu 37 11 36596127 36596127 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000448.2 +1 reviewed p.E425* 1.000 130 0% 103 33% 0 - - - - NULL RAG2 5897 genome.wustl.edu 37 11 36615130 36615130 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000536.3 -1 reviewed p.L197I 1.000 280 0% 243 30.9% 0 - probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_RAG2 LRRC4C 57689 genome.wustl.edu 37 11 40137471 40137471 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020929.1 -1 validated p.A124 0.133 117 0% 144 29.2% 1 0% - - - HMMSmart_SM00369,superfamily_L domain-like LOC399881 399881 genome.wustl.edu 37 11 43284628 43284628 + RNA SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_040375.2 -1 model NULL 1.000 98 0% 119 14.3% 0 - - - - - LOC399881 399881 genome.wustl.edu 37 11 43284792 43284792 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_040375.2 -1 model NULL 1.000 30 0% 38 28.9% 0 - - - - - TTC17 55761 genome.wustl.edu 37 11 43413475 43413475 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018259.5 +1 validated p.G212 0.982 177 0% 158 29.1% 4 50% - - - NULL MIR129-2 406918 genome.wustl.edu 37 11 43603018 43603018 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000362207 +1 known NULL 1.000 35 0% 36 47.2% 0 - - - - - HSD17B12 51144 genome.wustl.edu 37 11 43876335 43876335 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016142.2 +1 validated p.P252L 0.332 190 0% 172 39% 22 0% possibly_damaging(0.498) deleterious(0) deleterious(0.611) NULL ALKBH3 221120 genome.wustl.edu 37 11 43940668 43940668 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139178.3 +1 validated p.A250 0.049 125 0% 87 28.7% 9 0% - - - NULL ACCSL 390110 genome.wustl.edu 37 11 44074548 44074548 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031854.2 +1 validated p.V293A 0.000 131 0% 111 44.1% 0 - benign(0) tolerated(1) - HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ACCSL 390110 genome.wustl.edu 37 11 44079906 44079906 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031854.2 +1 validated p.R456Q 0.999 155 0% 140 27.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases EXT2 2132 genome.wustl.edu 37 11 44135787 44135787 + Missense_Mutation SNP G G A rs121918280 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000401.3 +1 reviewed p.D240N 1.000 430 0.2% 391 28.4% 28 53.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Exostosin ALX4 60529 genome.wustl.edu 37 11 44286499 44286499 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021926.3 -1 reviewed p.E381K 1.000 16 0.000 9 0.556 0 - possibly_damaging(0.888) tolerated(0.1) deleterious(0.634) NULL CD82 3732 genome.wustl.edu 37 11 44640211 44640211 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002231.3 +1 reviewed p.A222T 0.953 30 0% 20 25% 53 15% benign(0.03) tolerated(0.5) neutral(0.011) superfamily_Tetraspanin,HMMPfam_Tetraspannin TSPAN18 90139 genome.wustl.edu 37 11 44939542 44939542 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130783.4 +1 validated p.I93S 1.000 82 0% 42 28.6% 0 - possibly_damaging(0.867) deleterious(0) deleterious(0.781) HMMPfam_Tetraspannin CHST1 8534 genome.wustl.edu 37 11 45671529 45671529 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003654.4 -1 validated p.E315D 1.000 72 0% 69 46.4% 13 30.7% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 PHF21A 51317 genome.wustl.edu 37 11 45971793 45971793 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001101802.1 -1 validated p.V370L 1.000 151 0% 98 25.5% 4 50% possibly_damaging(0.543) tolerated(0.14) neutral(0.433) NULL AMBRA1 55626 genome.wustl.edu 37 11 46455066 46455066 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017749.2 -1 validated p.V888 1.000 58 0% 52 34.6% 17 23.5% - - - NULL ZNF408 79797 genome.wustl.edu 37 11 46726735 46726735 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024741.2 +1 validated p.P495 0.978 43 0% 39 23.1% 18 33.3% - - - superfamily_SSF57667 CKAP5 9793 genome.wustl.edu 37 11 46811666 46811666 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008938.1 -1 validated p.N612T 1.000 188 0% 149 31.5% 10 30% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat LRP4 4038 genome.wustl.edu 37 11 46905518 46905518 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002334.3 -1 reviewed p.R839Q 1.000 168 0% 134 23.1% 0 - probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain ARFGAP2 84364 genome.wustl.edu 37 11 47188436 47188436 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032389.3 -1 provisional p.A403T 1.000 178 0% 132 32.6% 51 41.1% unknown(0) tolerated(0.44) - NULL PACSIN3 29763 genome.wustl.edu 37 11 47203980 47203980 + Missense_Mutation SNP C C T rs147642333 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016223.4 -1 reviewed p.R62Q 1.000 30 0% 34 44.1% 33 36.3% probably_damaging(0.975) deleterious(0.04) deleterious(0.766) HMMPfam_FCH,HMMSmart_FCH ACP2 53 genome.wustl.edu 37 11 47267035 47267035 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001610.2 -1 reviewed p.S180F 0.000 250 0% 243 33.3% 47 23.4% benign(0.025) tolerated(0.08) neutral(0.301) HMMPfam_Acid_phosphat_A,superfamily_SSF53254 CELF1 10658 genome.wustl.edu 37 11 47498893 47498893 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001025596.2 -1 reviewed p.A283V 1.000 114 0% 120 31.7% 26 34.6% unknown(0) tolerated(0.25) - NULL MTCH2 23788 genome.wustl.edu 37 11 47656235 47656235 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014342.3 -1 validated p.V120I 0.989 50 0% 63 30.2% 231 43.7% benign(0.061) tolerated(0.37) neutral(0.023) superfamily_Mitochondrial carrier AGBL2 79841 genome.wustl.edu 37 11 47711785 47711785 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024783.2 -1 validated p.I492V 0.804 246 0% 332 28.9% 0 - benign(0) tolerated(0.53) neutral(0.007) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases NUP160 23279 genome.wustl.edu 37 11 47833688 47833688 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015231.1 -1 validated p.I723 0.991 167 0% 177 35% 5 20% - - - NULL PTPRJ 5795 genome.wustl.edu 37 11 48161067 48161067 + Missense_Mutation SNP G G A rs181029182 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002843.3 +1 reviewed p.E728K 0.009 108 0% 95 28.4% 9 77.7% possibly_damaging(0.748) tolerated(0.36) neutral(0.295) HMMSmart_FN3 PTPRJ 5795 genome.wustl.edu 37 11 48185153 48185153 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002843.3 +1 reviewed p.P1234 0.000 175 0% 191 35.6% 9 33.3% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 OR4X1 390113 genome.wustl.edu 37 11 48285433 48285433 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004726.1 +1 provisional p.V7 0.992 160 0% 166 21.7% 0 - - - - superfamily_SSF81321 OR4C3 256144 genome.wustl.edu 37 11 48346598 48346598 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004702.1 +1 provisional p.E36* 0.027 518 0% 497 14.1% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR4C3 256144 genome.wustl.edu 37 11 48347462 48347462 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004702.1 +1 provisional p.R324 0.235 245 0% 231 26% 0 - - - - superfamily_Family A G protein-coupled receptor-like LOC120824 120824 genome.wustl.edu 37 11 48997082 48997082 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_062300.6 -1 model p.L443F 0.136 237 0% 174 28.2% 0 - - - - HMMPfam_SPRY LOC283116 283116 genome.wustl.edu 37 11 49053296 49053296 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_208043.4 +1 model p.L49I 0.002 110 0% 117 25.6% 0 - possibly_damaging(0.597) tolerated(0.48) neutral(0.217) HMMSmart_RING,superfamily_SSF57850 ENSG00000219061 0 genome.wustl.edu 37 11 49855135 49855135 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000405176 -1 known p.D307Y 0.050 240 0% 286 31.8% 0 - - - - NULL OR4C12 283093 genome.wustl.edu 37 11 50003590 50003590 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005270.2 -1 validated p.G150* 0.641 561 0% 395 28.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4A5 81318 genome.wustl.edu 37 11 51412144 51412144 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005272.3 -1 validated p.F84 0.000 229 0% 198 32.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4A16 81327 genome.wustl.edu 37 11 55111083 55111083 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005274.1 +1 provisional p.R136Q 0.000 314 0% 278 28.8% 0 - benign(0.238) tolerated(0.3) neutral(0.053) HMMPfam_7tm_1,superfamily_SSF81321 OR4A16 81327 genome.wustl.edu 37 11 55111517 55111517 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005274.1 +1 provisional p.N281H 1.000 145 0% 138 31.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR4A15 81328 genome.wustl.edu 37 11 55136024 55136024 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005275.1 +1 provisional p.V222A 0.000 260 0% 322 31.1% 0 - benign(0.003) tolerated(0.1) neutral(0.286) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000181950 0 genome.wustl.edu 37 11 55234573 55234573 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000314689 +1 known p.E14D 0.103 104 0% 106 32.1% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like ENSG00000181950 0 genome.wustl.edu 37 11 55234731 55234731 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000314689 +1 known p.Y67C 0.002 121 0% 112 25.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ENSG00000181943 0 genome.wustl.edu 37 11 55259575 55259575 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000314657 +1 known p.L286R 0.045 156 0% 169 31.4% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR4C11 219429 genome.wustl.edu 37 11 55371500 55371500 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004700.1 -1 provisional p.A117V 0.999 183 0.5% 170 23.5% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR4C11 219429 genome.wustl.edu 37 11 55371766 55371766 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004700.1 -1 provisional p.I28 0.179 187 0% 170 28.2% 0 - - - - superfamily_SSF81321 OR4S2 219431 genome.wustl.edu 37 11 55418838 55418838 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004059.2 +1 validated p.H153 0.001 480 0% 456 11.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C6 219432 genome.wustl.edu 37 11 55433152 55433152 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004704.1 +1 provisional p.N170 0.001 481 0% 373 27.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5D13 390142 genome.wustl.edu 37 11 55541203 55541203 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001967.1 +1 provisional p.S97Y 0.000 361 0% 317 30.6% 0 - benign(0.001) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR5D14 219436 genome.wustl.edu 37 11 55563190 55563190 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004735.1 +1 provisional p.I53M 0.000 228 0% 178 32% 0 - benign(0.021) tolerated(0.34) neutral(0.024) HMMPfam_7tm_1,superfamily_SSF81321 OR5L1 219437 genome.wustl.edu 37 11 55579361 55579361 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004738.1 +1 provisional p.V140A 0.001 203 0% 222 23% 0 - benign(0) deleterious(0.03) neutral(0.364) HMMPfam_7tm_1,superfamily_SSF81321 OR5D16 390144 genome.wustl.edu 37 11 55607057 55607057 + Missense_Mutation SNP C C A rs61896326 byCluster;byFrequency;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005496.1 +1 provisional p.S277Y 0.000 292 0% 238 30.3% 0 - possibly_damaging(0.875) deleterious(0) deleterious(0.784) HMMPfam_7tm_1,superfamily_SSF81321 OR5W2 390148 genome.wustl.edu 37 11 55681301 55681301 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001960.1 -1 provisional p.G253E 0.857 168 0% 156 29.5% 0 - possibly_damaging(0.895) deleterious(0) deleterious(0.797) HMMPfam_7tm_1,superfamily_SSF81321 OR5W2 390148 genome.wustl.edu 37 11 55681787 55681787 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001960.1 -1 provisional p.S91* 0.182 203 0% 195 35.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5I1 10798 genome.wustl.edu 37 11 55703049 55703049 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006637.1 -1 reviewed p.I276 0.052 84 0% 92 30.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR10AG1 282770 genome.wustl.edu 37 11 55735819 55735819 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005491.1 -1 provisional p.K41Q 0.000 225 0% 173 40.5% 0 - benign(0.022) tolerated(0.29) neutral(0.030) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10AG1 282770 genome.wustl.edu 37 11 55735876 55735876 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005491.1 -1 provisional p.F22V 0.085 194 0% 152 21.1% 0 - probably_damaging(0.998) tolerated(0.55) deleterious(0.481) superfamily_Family A G protein-coupled receptor-like OR10AG1 282770 genome.wustl.edu 37 11 55735895 55735895 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005491.1 -1 provisional p.H15Q 0.000 174 0% 129 37.2% 0 - benign(0) tolerated(1) - superfamily_Family A G protein-coupled receptor-like OR5F1 338674 genome.wustl.edu 37 11 55761268 55761268 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003697.1 -1 provisional p.Y278 0.090 175 0% 188 36.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5AS1 219447 genome.wustl.edu 37 11 55798147 55798147 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001921.1 +1 provisional p.F85V 0.055 208 0% 172 29.1% 0 - benign(0.117) deleterious(0.01) neutral(0.415) HMMPfam_7tm_1,superfamily_SSF81321 OR8H3 390152 genome.wustl.edu 37 11 55890218 55890218 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005201.1 +1 provisional p.A124T 0.803 427 0% 448 29.2% 0 - benign(0.005) tolerated(0.07) neutral(0.319) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR8H3 390152 genome.wustl.edu 37 11 55890747 55890747 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005201.1 +1 provisional p.A300V 0.377 282 0% 244 30.3% 0 - possibly_damaging(0.641) deleterious(0.01) deleterious(0.630) superfamily_SSF81321 OR8J3 81168 genome.wustl.edu 37 11 55904694 55904694 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004064.1 -1 provisional p.S167 0.000 129 0% 143 37.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5J2 282775 genome.wustl.edu 37 11 55944758 55944758 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005492.1 +1 provisional p.A222D 0.000 223 0% 168 30.4% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_7tm_1,superfamily_SSF81321 OR5T2 219464 genome.wustl.edu 37 11 55999897 55999897 + Silent SNP G G T rs7122000 byCluster;byFrequency;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004746.1 -1 provisional p.I255 0.030 382 0% 359 32.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5T3 390154 genome.wustl.edu 37 11 56020531 56020531 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004747.1 +1 provisional p.L286I 0.000 238 0% 265 30.2% 0 - probably_damaging(0.99) tolerated(0.53) neutral(0.449) HMMPfam_7tm_1,superfamily_SSF81321 OR8H1 219469 genome.wustl.edu 37 11 56057553 56057553 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000395195 -1 known e2-2 0.000 132 0% 106 24.5% 0 - - - - - OR8H1 219469 genome.wustl.edu 37 11 56057884 56057884 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005199.1 -1 provisional p.S219P 0.002 207 0% 169 25.4% 0 - possibly_damaging(0.434) deleterious(0.01) deleterious(0.547) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8J1 219477 genome.wustl.edu 37 11 56128140 56128140 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005205.1 +1 provisional p.L140I 0.000 202 0% 250 32% 0 - benign(0) tolerated(0.26) neutral(0.034) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8J1 219477 genome.wustl.edu 37 11 56128488 56128488 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005205.1 +1 provisional p.L256I 0.001 331 0% 300 29.3% 0 - benign(0.006) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5R1 219479 genome.wustl.edu 37 11 56184803 56184803 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004744.1 -1 provisional p.K302N 0.473 223 0% 181 29.3% 0 - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) superfamily_SSF81321 ENSG00000230416 0 genome.wustl.edu 37 11 56216752 56216752 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000415874 +1 known p.G202D 0.001 259 0% 229 31.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5M9 390162 genome.wustl.edu 37 11 56230390 56230390 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004743.1 -1 provisional p.G163D 0.002 148 0% 140 30.7% 0 - possibly_damaging(0.813) tolerated(0.29) neutral(0.336) HMMPfam_7tm_1,superfamily_SSF81321 OR5M11 219487 genome.wustl.edu 37 11 56310489 56310489 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005245.1 -1 provisional p.S82L 0.693 241 0% 259 29% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR5M10 390167 genome.wustl.edu 37 11 56344370 56344370 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004741.1 -1 provisional p.V276 0.001 381 0% 358 30.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5M1 390168 genome.wustl.edu 37 11 56380043 56380043 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004740.1 -1 provisional p.K312N 0.059 262 0% 252 32.5% 0 - possibly_damaging(0.487) tolerated(0.24) neutral(0.200) NULL OR5AK3P 81228 genome.wustl.edu 37 11 56738738 56738738 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000326876 +1 known p.C72G 0.770 57 1.8% 56 37.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 LRRC55 219527 genome.wustl.edu 37 11 56954756 56954756 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005210.2 +1 validated p.V276 0.316 141 0% 114 34.2% 0 - - - - HMMSmart_SM00082,superfamily_L domain-like SLC43A1 8501 genome.wustl.edu 37 11 57263628 57263628 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003627.4 -1 provisional p.D190N 0.998 52 0% 46 26.1% 4 0% benign(0.31) tolerated(0.07) neutral(0.415) superfamily_MFS general substrate transporter MED19 219541 genome.wustl.edu 37 11 57472283 57472283 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153450.1 -1 provisional p.P160Q 1.000 192 0% 145 32.4% 36 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Med19 CTNND1 1500 genome.wustl.edu 37 11 57561554 57561554 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085458.1 +1 validated e2+1 1.000 114 0% 88 39.8% 1 100% - - - - CTNND1 1500 genome.wustl.edu 37 11 57569579 57569579 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085458.1 +1 validated p.K444T 1.000 576 0% 530 27.7% 45 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat CTNND1 1500 genome.wustl.edu 37 11 57569630 57569630 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085458.1 +1 validated p.R461Q 1.000 620 0% 540 29.4% 46 56.5% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat OR6Q1 219952 genome.wustl.edu 37 11 57798553 57798553 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005186.2 +1 validated p.E43D 0.986 454 0% 457 33% 0 - possibly_damaging(0.783) tolerated(0.16) neutral(0.352) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6Q1 219952 genome.wustl.edu 37 11 57798706 57798706 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005186.2 +1 validated p.K94 0.007 357 0% 311 34.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR9I1 219954 genome.wustl.edu 37 11 57886520 57886520 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005211.1 -1 validated p.T133A 0.001 133 0% 131 33.6% 0 - benign(0.011) tolerated(0.34) neutral(0.024) HMMPfam_7tm_1,superfamily_SSF81321 OR9I1 219954 genome.wustl.edu 37 11 57886614 57886614 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005211.1 -1 validated p.F101L 0.997 150 0% 171 26.9% 0 - probably_damaging(0.998) tolerated(0.5) deleterious(0.484) HMMPfam_7tm_1,superfamily_SSF81321 OR9Q1 219956 genome.wustl.edu 37 11 57946950 57946950 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005212.3 +1 validated p.F12L 0.980 260 0% 262 28.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF81321 OR9Q2 219957 genome.wustl.edu 37 11 57958140 57958140 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005283.2 +1 validated p.Y60H 1.000 139 0% 168 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR9Q2 219957 genome.wustl.edu 37 11 57958556 57958556 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005283.2 +1 validated p.V198 0.724 194 0% 148 31.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR9Q2 219957 genome.wustl.edu 37 11 57958670 57958670 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005283.2 +1 validated p.K236N 1.000 182 0% 167 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 LPXN 9404 genome.wustl.edu 37 11 58322355 58322355 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143995.1 -1 reviewed p.L98 0.988 126 0% 97 29.9% 6 0% - - - NULL ZFP91 80829 genome.wustl.edu 37 11 58380282 58380282 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053023.3 +1 reviewed p.G319V 1.000 258 0% 192 26.6% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CNTF 1270 genome.wustl.edu 37 11 58391729 58391729 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000614.3 +1 reviewed p.L113I 0.029 226 0% 231 10.4% 0 - benign(0.012) tolerated(0.13) neutral(0.253) HMMPfam_CNTF,superfamily_4-helical cytokines CNTF 1270 genome.wustl.edu 37 11 58391858 58391858 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000614.3 +1 reviewed p.L156 1.000 275 0% 307 24.4% 0 - - - - HMMPfam_CNTF,superfamily_4-helical cytokines GLYAT 10249 genome.wustl.edu 37 11 58477632 58477632 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201648.2 -1 validated p.E166D 0.026 103 0% 104 23.1% 0 - benign(0.054) tolerated(0.13) neutral(0.256) HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat) GLYATL2 219970 genome.wustl.edu 37 11 58607049 58607049 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145016.3 -1 validated p.L13M 0.002 211 0% 167 30.5% 7 14.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Gly_acyl_tr_N FAM111B 374393 genome.wustl.edu 37 11 58892748 58892748 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198947.3 +1 validated p.T393M 0.000 267 0% 385 28.6% 0 - benign(0.002) tolerated(0.1) neutral(0.286) NULL FAM111A 63901 genome.wustl.edu 37 11 58919799 58919799 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142519.1 +1 validated p.T220A 1.000 246 0% 193 28% 2 50% possibly_damaging(0.601) deleterious(0.02) deleterious(0.591) NULL DTX4 23220 genome.wustl.edu 37 11 58949373 58949373 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015177.1 +1 validated p.D125N 1.000 154 0.6% 133 29.3% 9 55.5% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_WWE,HMMSmart_SM00678 OR5A1 219982 genome.wustl.edu 37 11 59210738 59210738 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004728.1 +1 provisional p.T33A 0.448 399 0% 386 30.6% 0 - benign(0.085) deleterious(0.03) neutral(0.370) superfamily_SSF81321 OR4D6 219983 genome.wustl.edu 37 11 59225186 59225186 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004708.1 +1 provisional p.F251 0.002 163 0% 178 33.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4D11 219986 genome.wustl.edu 37 11 59271839 59271839 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004706.1 +1 provisional p.A264V 0.022 385 0% 381 28.6% 0 - benign(0.007) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_SSF81321 STX3 6809 genome.wustl.edu 37 11 59540732 59540732 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004177.4 +1 reviewed p.D27N 0.998 428 0% 296 27% 9 77.7% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMSmart_SM00503 STX3 6809 genome.wustl.edu 37 11 59560949 59560949 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004177.4 +1 reviewed p.D213N 1.000 148 0.7% 126 23% 20 20% benign(0.384) tolerated(0.08) neutral(0.422) HMMPfam_SNARE,HMMSmart_SM00397,PatternScan_SYNTAXIN,superfamily_t-snare proteins TCN1 6947 genome.wustl.edu 37 11 59633911 59633911 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001062.3 -1 reviewed p.G11 0.883 287 0% 161 26.7% 1 0% - - - HMMPfam_Cobalamin_bind MS4A3 932 genome.wustl.edu 37 11 59828745 59828745 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006138.4 +1 reviewed p.D38Y 0.006 260 0% 295 14.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MS4A2 2206 genome.wustl.edu 37 11 59857893 59857893 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000139.3 +1 reviewed p.D91Y 0.000 297 0% 273 26.4% 0 - probably_damaging(0.979) tolerated(0.08) deleterious(0.722) HMMPfam_CD20 MS4A6A 64231 genome.wustl.edu 37 11 59947427 59947427 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152852.1 -1 reviewed p.I53 0.639 185 0% 168 35.7% 33 0% - - - NULL MS4A4E 643680 genome.wustl.edu 37 11 59997418 59997418 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_931886.3 -1 model p.E60D 0.978 114 0% 88 29.5% 0 - unknown(0) deleterious(0) - NULL MS4A4A 51338 genome.wustl.edu 37 11 60068510 60068510 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_148975.1 +1 reviewed p.I123L 0.052 79 0% 62 21% 22 0% benign(0.06) tolerated(0.28) neutral(0.036) HMMPfam_CD20 MS4A7 58475 genome.wustl.edu 37 11 60161315 60161315 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021201.4 +1 reviewed p.S235Y 0.002 293 0% 237 24.5% 4 0% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL MS4A1 931 genome.wustl.edu 37 11 60229997 60229997 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021950.3 +1 reviewed p.K50N 0.907 224 0% 167 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MS4A10 341116 genome.wustl.edu 37 11 60567343 60567343 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206893.3 +1 validated p.V255 0.001 65 0% 61 36.1% 0 - - - - NULL CCDC86 79080 genome.wustl.edu 37 11 60615443 60615443 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024098.3 +1 validated p.R269W 1.000 134 0% 164 29.9% 27 37% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZP1 22917 genome.wustl.edu 37 11 60636705 60636705 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207341.2 +1 validated p.S95L 0.941 30 0% 19 36.8% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL ENSG00000251217 0 genome.wustl.edu 37 11 60785203 60785203 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000505761 -1 known NULL 0.000 128 0% 102 33.3% 0 - - - - - DDB1 1642 genome.wustl.edu 37 11 61079317 61079317 + Missense_Mutation SNP C C T rs190054116 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001923.3 -1 validated p.R739H 1.000 129 0% 159 30.2% 176 44.3% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL DDB1 1642 genome.wustl.edu 37 11 61083828 61083828 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001923.3 -1 validated p.E447K 1.000 537 0% 545 32.7% 66 34.8% benign(0.001) tolerated(0.07) neutral(0.319) NULL CYBASC3 220002 genome.wustl.edu 37 11 61121341 61121341 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153611.4 -1 validated p.T103M 0.000 50 0% 64 29.7% 59 42.3% possibly_damaging(0.501) deleterious(0.01) deleterious(0.573) HMMPfam_Cytochrom_B561,HMMSmart_B561 SDHAF2 54949 genome.wustl.edu 37 11 61205104 61205104 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017841.1 +1 provisional p.A15D 0.000 239 0% 262 11.1% 29 10.3% possibly_damaging(0.681) deleterious(0.01) deleterious(0.649) NULL DAGLA 747 genome.wustl.edu 37 11 61495691 61495691 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006133.1 +1 validated p.D235N 1.000 99 0% 81 28.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C11orf10 746 genome.wustl.edu 37 11 61557967 61557967 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014206.3 -1 validated p.F37 1.000 22 0% 17 35.3% 306 39.2% - - - HMMPfam_UPF0197 FADS1 3992 genome.wustl.edu 37 11 61578253 61578253 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013402.4 -1 reviewed p.F295L 1.000 108 0% 72 37.5% 26 46.1% benign(0) tolerated(0.17) neutral(0.059) HMMPfam_FA_desaturase SCGB1D1 10648 genome.wustl.edu 37 11 61960885 61960885 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006552.1 +1 reviewed p.E86 0.000 172 0% 122 30.3% 5 0% - - - HMMPfam_Uteroglobin,HMMSmart_UTG,superfamily_Secretoglobin SCGB1D2 10647 genome.wustl.edu 37 11 62010872 62010872 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006551.3 +1 reviewed p.V56A 0.000 442 0% 505 30.3% 28 53.5% possibly_damaging(0.877) tolerated(0.16) neutral(0.401) HMMPfam_Uteroglobin,HMMSmart_UTG,superfamily_Secretoglobin SCGB2A2 4250 genome.wustl.edu 37 11 62040452 62040452 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002411.2 +1 provisional p.L89 0.000 98 0% 71 19.7% 0 - - - - HMMPfam_Uteroglobin,superfamily_Uteroglobin-like AHNAK 79026 genome.wustl.edu 37 11 62288806 62288806 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001620.1 -1 validated p.I4361 0.369 561 0.4% 470 28.3% 49 38.7% - - - HMMPfam_CheC AHNAK 79026 genome.wustl.edu 37 11 62291198 62291198 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001620.1 -1 validated p.S3564Y 0.785 468 0% 331 34.1% 11 54.5% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL AHNAK 79026 genome.wustl.edu 37 11 62294185 62294185 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001620.1 -1 validated p.K2568N 0.999 457 0% 364 27.7% 2 50% probably_damaging(0.99) tolerated(0.72) neutral(0.443) NULL AHNAK 79026 genome.wustl.edu 37 11 62296933 62296933 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001620.1 -1 validated p.K1652N 0.719 436 0% 396 14.1% 2 0% probably_damaging(0.958) tolerated(0.19) neutral(0.451) NULL AHNAK 79026 genome.wustl.edu 37 11 62298676 62298676 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001620.1 -1 validated p.D1071 0.996 203 0% 205 33.2% 1 0% - - - NULL TUT1 64852 genome.wustl.edu 37 11 62346503 62346503 + Splice_Site SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022830.2 -1 reviewed e5-1 0.998 15 0% 53 34% 0 - - - - - NXF1 10482 genome.wustl.edu 37 11 62561846 62561846 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006362.4 -1 reviewed p.F548 0.590 109 0% 100 29% 64 56.2% - - - superfamily_SSF54427 SLC3A2 6520 genome.wustl.edu 37 11 62650397 62650397 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012661.1 +1 reviewed p.D338Y 1.000 96 0% 115 24.3% 266 36.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_(Trans)glycosidases SLC22A6 9356 genome.wustl.edu 37 11 62751803 62751803 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004790.3 -1 reviewed p.I120 0.998 116 0% 103 45.6% 0 - - - - NULL SLC22A8 9376 genome.wustl.edu 37 11 62766448 62766448 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004254.3 -1 reviewed p.R236C 1.000 209 0% 173 31.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A24 283238 genome.wustl.edu 37 11 62911070 62911070 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136506.1 -1 validated p.D61G 0.000 61 0% 59 23.7% 0 - benign(0.008) tolerated(0.34) neutral(0.023) NULL SLC22A25 387601 genome.wustl.edu 37 11 62951248 62951248 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199352.3 -1 validated p.K291T 0.441 324 0% 296 28.7% 0 - unknown(0) tolerated(0.06) - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A25 387601 genome.wustl.edu 37 11 62996802 62996802 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199352.3 -1 validated p.T108M 0.000 221 0% 173 37.6% 0 - benign(0.053) tolerated(0.32) neutral(0.028) NULL SLC22A10 387775 genome.wustl.edu 37 11 63064921 63064921 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039752.3 +1 validated p.S218Y 0.000 522 0% 406 33.7% 0 - possibly_damaging(0.459) tolerated(1) neutral(0.150) HMMPfam_MFS_1,superfamily_MFS general substrate transporter PLA2G16 11145 genome.wustl.edu 37 11 63342430 63342430 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128203.1 -1 validated p.R159Q 0.882 165 0% 159 27.7% 12 0% benign(0.336) tolerated(0.08) neutral(0.406) NULL ATL3 25923 genome.wustl.edu 37 11 63419976 63419976 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015459.3 -1 validated p.I159 1.000 126 0% 134 30.6% 20 40% - - - HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases RTN3 10313 genome.wustl.edu 37 11 63472369 63472369 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201429.1 +1 validated p.S63 1.000 176 0% 160 40.6% 0 - - - - NULL RTN3 10313 genome.wustl.edu 37 11 63486654 63486654 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201428.1 +1 validated p.S208Y 0.423 104 0% 104 26.9% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL RTN3 10313 genome.wustl.edu 37 11 63487531 63487531 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201428.1 +1 validated p.I500M 0.060 144 0.7% 126 29.4% 1 0% possibly_damaging(0.701) deleterious(0.01) deleterious(0.657) NULL RTN3 10313 genome.wustl.edu 37 11 63525732 63525732 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201430.1 +1 validated p.S237 0.829 95 0% 70 30% 199 46.7% unknown(0) - - NULL MARK2 2011 genome.wustl.edu 37 11 63668288 63668288 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039469.2 +1 reviewed p.E276K 1.000 435 0% 343 31.5% 24 41.6% probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_Kinase_like PLCB3 5331 genome.wustl.edu 37 11 64033507 64033507 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000932.2 +1 reviewed p.R1062I 0.658 26 0% 19 26.3% 40 60% benign(0.011) tolerated(0.15) neutral(0.241) HMMPfam_PLC-beta_C CCDC88B 283234 genome.wustl.edu 37 11 64124642 64124642 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000359902 +1 known p.K607N 0.001 23 0% 21 38.1% 23 34.7% unknown(0) - - NULL NRXN2 9379 genome.wustl.edu 37 11 64387803 64387803 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015080.2 -1 reviewed p.S1405 0.435 8 0.000 7 0.571 6 0% - - - NULL SF1 7536 genome.wustl.edu 37 11 64540926 64540926 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004630.3 -1 reviewed p.G71D 1.000 29 0% 38 15.8% 76 26.3% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL MAP4K2 5871 genome.wustl.edu 37 11 64567683 64567683 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004579.2 -1 reviewed p.P271 0.041 23 0% 12 33.3% 10 30% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CDC42BPG 55561 genome.wustl.edu 37 11 64594857 64594857 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017525.2 -1 validated p.F1388 0.998 61 0% 65 24.6% 16 25% - - - NULL ATG2A 23130 genome.wustl.edu 37 11 64681310 64681310 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015104.2 -1 validated p.V191 0.911 23 0% 25 20% 4 25% - - - NULL C11orf85 283129 genome.wustl.edu 37 11 64717291 64717291 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037225.1 -1 predicted p.E91D 0.059 138 0% 132 28% 0 - benign(0.105) deleterious(0.04) neutral(0.357) NULL FAU 2197 genome.wustl.edu 37 11 64889277 64889277 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000434372 -1 known p.L2I 0.060 28 0% 25 36% 1810 37.8% - - - NULL SYVN1 84447 genome.wustl.edu 37 11 64900211 64900211 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172230.2 -1 reviewed p.R140H 1.000 110 0.9% 112 27.7% 33 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DPF2 5977 genome.wustl.edu 37 11 65107911 65107911 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006268.3 +1 reviewed p.R30C 1.000 226 0% 439 22.1% 18 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FRMD8 83786 genome.wustl.edu 37 11 65172523 65172523 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031904.3 +1 validated p.I420 0.994 16 0% 11 72.7% 12 41.6% - - - NULL MAP3K11 4296 genome.wustl.edu 37 11 65373292 65373292 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002419.3 -1 reviewed p.Y591H 1.000 46 0% 29 31% 29 44.8% possibly_damaging(0.528) deleterious(0) deleterious(0.623) NULL KAT5 10524 genome.wustl.edu 37 11 65482335 65482335 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182710.1 +1 reviewed p.R328H 1.000 164 0.6% 127 33.9% 86 43% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MOZ_SAS,superfamily_Acyl-CoA N-acyltransferases (Nat) SNX32 254122 genome.wustl.edu 37 11 65617981 65617981 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152760.2 +1 validated p.R152C 0.836 41 0% 55 34.5% 0 - benign(0.155) deleterious(0.05) neutral(0.359) HMMPfam_PX,superfamily_PX domain BANF1 8815 genome.wustl.edu 37 11 65770786 65770786 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143985.1 +1 reviewed p.S22N 1.000 50 0% 44 43.2% 270 41.4% benign(0) tolerated(0.33) neutral(0.024) HMMPfam_BAF,superfamily_Barrier-to-autointegration factor BAF ENSG00000245156 0 genome.wustl.edu 37 11 66039454 66039454 + RNA SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000501708 -1 known NULL 0.004 131 0% 164 32.3% 0 - - - - - CNIH2 254263 genome.wustl.edu 37 11 66050209 66050209 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182553.1 +1 provisional p.E52 1.000 6 0.000 15 0.267 2 100% unknown(0) - - HMMPfam_Cornichon NPAS4 266743 genome.wustl.edu 37 11 66192681 66192681 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178864.3 +1 validated p.D774Y 0.999 62 0% 66 27.3% 0 - benign(0.148) deleterious(0.02) neutral(0.396) NULL BBS1 582 genome.wustl.edu 37 11 66278513 66278513 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024649.4 +1 reviewed p.A26V 0.997 209 0% 230 30.4% 6 66.6% possibly_damaging(0.947) deleterious(0) deleterious(0.835) NULL SPTBN2 6712 genome.wustl.edu 37 11 66460096 66460096 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006946.2 -1 reviewed p.R1701C 1.000 46 0% 46 37% 14 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN2 6712 genome.wustl.edu 37 11 66460784 66460784 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006946.2 -1 reviewed p.E1576G 1.000 99 0% 77 24.7% 28 46.4% possibly_damaging(0.81) tolerated(0.2) neutral(0.354) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN2 6712 genome.wustl.edu 37 11 66472357 66472357 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006946.2 -1 reviewed p.R797Q 0.898 24 0% 25 56% 17 35.2% benign(0.002) tolerated(0.72) neutral(0.002) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat KDM2A 22992 genome.wustl.edu 37 11 67012821 67012821 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012308.2 +1 reviewed p.K575N 0.898 145 0% 143 25.9% 14 35.7% possibly_damaging(0.925) deleterious(0) deleterious(0.818) HMMPfam_zf-CXXC GSTP1 2950 genome.wustl.edu 37 11 67354016 67354016 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398606 +1 known p.N201D 0.242 31 0% 35 28.6% 1991 37.6% benign(0.245) deleterious(0.03) neutral(0.390) superfamily_GST_C_like ENSG00000221553 0 genome.wustl.edu 37 11 67700701 67700701 + RNA SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000408626 +1 novel NULL 0.020 107 0% 138 9.4% 0 - - - - - CHKA 1119 genome.wustl.edu 37 11 67838250 67838250 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001277.2 -1 reviewed p.F235L 1.000 82 0% 72 34.7% 14 28.5% benign(0.209) tolerated(0.24) neutral(0.058) HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like) SUV420H1 51111 genome.wustl.edu 37 11 67939058 67939058 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017635.3 -1 reviewed p.K258E 1.000 83 0% 83 30.1% 13 15.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain LRP5 4041 genome.wustl.edu 37 11 68213990 68213990 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002335.2 +1 reviewed p.A1525 0.066 36 0% 33 30.3% 70 31.4% - - - NULL PPP6R3 55291 genome.wustl.edu 37 11 68369342 68369342 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018312.4 +1 validated p.S655Y 0.896 404 0% 338 32.2% 21 66.6% possibly_damaging(0.455) deleterious(0.03) deleterious(0.513) NULL IGHMBP2 3508 genome.wustl.edu 37 11 68696697 68696697 + Silent SNP C C T rs137852670 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002180.2 +1 reviewed p.F369 0.985 46 0% 48 27.1% 7 28.5% - - - HMMSmart_SM00382,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases PPFIA1 8500 genome.wustl.edu 37 11 70178072 70178072 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003626.2 +1 reviewed p.D362Y 1.000 187 0% 161 26.7% 9 44.4% possibly_damaging(0.826) deleterious(0) deleterious(0.758) NULL PPFIA1 8500 genome.wustl.edu 37 11 70181778 70181778 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003626.2 +1 reviewed p.R469I 1.000 87 0% 80 30% 7 28.5% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL CTTN 2017 genome.wustl.edu 37 11 70279211 70279211 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005231.3 +1 reviewed p.A424V 0.835 43 0% 27 29.6% 145 41.3% possibly_damaging(0.72) tolerated(0.14) deleterious(0.510) NULL SHANK2 22941 genome.wustl.edu 37 11 70331426 70331426 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012309.3 -1 reviewed p.A1063T 1.000 29 0% 17 58.8% 0 - benign(0.078) deleterious(0.04) neutral(0.354) NULL DHCR7 1717 genome.wustl.edu 37 11 71148915 71148915 + Silent SNP G G A rs80338858 byCluster TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001360.2 -1 reviewed p.F302 0.979 56 0% 45 28.9% 62 37% - - - HMMPfam_ERG4_ERG24 DHCR7 1717 genome.wustl.edu 37 11 71149991 71149991 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001360.2 -1 reviewed p.F255 0.967 19 0% 36 47.2% 64 7.8% - - - HMMPfam_ERG4_ERG24 DHCR7 1717 genome.wustl.edu 37 11 71150111 71150111 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001360.2 -1 reviewed p.F215L 1.000 30 0% 33 36.4% 40 40% benign(0.006) tolerated(0.1) neutral(0.286) HMMPfam_ERG4_ERG24,PatternScan_STEROL_REDUCT_1 DHCR7 1717 genome.wustl.edu 37 11 71155984 71155984 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001360.2 -1 reviewed p.S5 0.017 179 0% 149 31.5% 58 43.1% - - - NULL NADSYN1 55191 genome.wustl.edu 37 11 71192440 71192440 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018161.4 +1 validated p.R346Q 0.997 103 0% 69 34.8% 56 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAD_synthase,superfamily_Adenine nucleotide alpha hydrolases-like NADSYN1 55191 genome.wustl.edu 37 11 71196592 71196592 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018161.4 +1 validated p.R487Q 0.984 11 0% 16 62.5% 104 50.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAD_synthase,superfamily_Adenine nucleotide alpha hydrolases-like KRTAP5-9 3846 genome.wustl.edu 37 11 71259861 71259861 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005553.3 +1 validated p.S53Y 0.985 275 0% 239 26.8% 0 - unknown(0) tolerated(0.06) - PatternScan_TNFR_NGFR_1 LOC100129216 100129216 genome.wustl.edu 37 11 71595481 71595481 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001723261.1 +1 model p.C29 0.005 97 0% 88 22.7% 0 - - - - NULL NUMA1 4926 genome.wustl.edu 37 11 71727555 71727555 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006185.2 -1 validated p.E381K 1.000 77 0% 92 37% 14 42.8% probably_damaging(0.962) tolerated(0.24) neutral(0.443) NULL FOLR2 2350 genome.wustl.edu 37 11 71929626 71929626 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000321324 +1 known p.D17Y 0.000 38 0% 32 31.2% 4 25% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL INPPL1 3636 genome.wustl.edu 37 11 71942192 71942192 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001567.3 +1 reviewed p.R486C 0.997 167 0% 126 35.7% 31 41.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos LOC220077 220077 genome.wustl.edu 37 11 71962306 71962306 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_017002.2 -1 model NULL 0.063 11 0% 13 30.8% 0 - - - - - PDE2A 5138 genome.wustl.edu 37 11 72296617 72296617 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002599.3 -1 validated p.K401N 1.000 39 0% 44 38.6% 0 - probably_damaging(0.959) tolerated(0.34) neutral(0.426) superfamily_GAF domain-like PDE2A 5138 genome.wustl.edu 37 11 72300217 72300217 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002599.3 -1 validated e12+2 1.000 20 0% 27 37% 0 - - - - - ARAP1 116985 genome.wustl.edu 37 11 72404423 72404423 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040118.2 -1 reviewed p.D1301N 1.000 81 0% 92 28.3% 40 25% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like STARD10 10809 genome.wustl.edu 37 11 72466767 72466767 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006645.2 -1 validated p.S203 0.975 48 0% 35 48.6% 78 38.4% - - - HMMPfam_START,HMMSmart_START,superfamily_SSF55961 ARHGEF17 9828 genome.wustl.edu 37 11 73020899 73020899 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014786.3 +1 validated p.S406P 0.522 49 0% 25 20% 0 - benign(0.013) deleterious(0) neutral(0.445) NULL DNAJB13 374407 genome.wustl.edu 37 11 73662141 73662141 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153614.2 +1 provisional p.L9 0.903 65 0% 71 36.6% 7 57.1% - - - HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain DNAJB13 374407 genome.wustl.edu 37 11 73677273 73677273 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153614.2 +1 provisional p.T195A 1.000 59 0% 53 22.6% 15 20% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain C2CD3 26005 genome.wustl.edu 37 11 73879425 73879425 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015531.4 -1 validated p.R97C 1.000 167 0% 139 30.9% 3 0% probably_damaging(0.993) tolerated(0.07) deleterious(0.769) NULL PGM2L1 283209 genome.wustl.edu 37 11 74053588 74053588 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173582.3 -1 validated p.P517Q 1.000 226 0% 185 26.5% 15 80% probably_damaging(0.975) deleterious(0) deleterious(0.861) superfamily_Phosphoglucomutase C-terminal domain OR2AT4 341152 genome.wustl.edu 37 11 74800569 74800569 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005285.1 -1 provisional p.M64V 1.000 135 0% 146 28.8% 0 - benign(0.001) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLCO2B1 11309 genome.wustl.edu 37 11 74904391 74904391 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007256.3 +1 validated p.F402L 1.000 150 0% 142 31% 12 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_OATP,superfamily_MFS general substrate transporter SERPINH1 871 genome.wustl.edu 37 11 75277770 75277770 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001235.2 +1 reviewed p.V126M 0.998 14 0% 17 35.3% 288 26% probably_damaging(0.96) deleterious(0.03) deleterious(0.768) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins UVRAG 7405 genome.wustl.edu 37 11 75590977 75590977 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003369.3 +1 reviewed p.S109P 1.000 526 0% 435 32% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_C2 UVRAG 7405 genome.wustl.edu 37 11 75599883 75599883 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003369.3 +1 reviewed p.R148Q 1.000 53 0% 45 22.2% 6 33.3% benign(0.196) tolerated(0.68) neutral(0.020) NULL UVRAG 7405 genome.wustl.edu 37 11 75718615 75718615 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003369.3 +1 reviewed p.R317C 1.000 228 0% 176 31.2% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRKRIR 5612 genome.wustl.edu 37 11 76063133 76063133 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004705.2 -1 provisional p.A354V 0.997 281 0% 270 33% 17 17.6% possibly_damaging(0.619) tolerated(0.35) neutral(0.236) NULL C11orf30 56946 genome.wustl.edu 37 11 76158035 76158035 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020193.3 +1 validated p.R18I 1.000 98 0% 111 32.4% 1 100% possibly_damaging(0.527) tolerated(0.06) deleterious(0.500) HMMPfam_ENT MYO7A 4647 genome.wustl.edu 37 11 76905482 76905482 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000260.3 +1 reviewed p.L1412 0.025 31 0% 19 42.1% 0 - - - - superfamily_Second domain of FERM,HMMSmart_SM00295 GDPD4 220032 genome.wustl.edu 37 11 76982396 76982396 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182833.1 -1 provisional p.F84V 0.000 216 0% 214 32.2% 0 - benign(0.427) tolerated(1) neutral(0.139) NULL CLNS1A 1207 genome.wustl.edu 37 11 77330694 77330694 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001293.2 -1 reviewed p.E231D 0.993 130 0.8% 127 25.2% 138 37.6% benign(0.023) tolerated(0.41) neutral(0.016) NULL RSF1 51773 genome.wustl.edu 37 11 77402275 77402275 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016578.3 -1 validated p.L943 0.450 190 0% 157 28% 2 50% - - - superfamily_FYVE/PHD zinc finger INTS4 92105 genome.wustl.edu 37 11 77633494 77633494 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033547.3 -1 validated p.R513Q 1.000 83 0% 85 23.5% 4 50% probably_damaging(0.995) tolerated(0.39) deleterious(0.474) superfamily_ARM repeat KCTD14 65987 genome.wustl.edu 37 11 77727773 77727773 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023930.3 -1 validated p.D212N 0.999 165 0% 189 31.2% 60 60% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LOC100289388 100289388 genome.wustl.edu 37 11 77885091 77885091 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343083.1 +1 model p.I121V 0.960 225 0% 231 29.9% 0 - - - - NULL USP35 57558 genome.wustl.edu 37 11 77921047 77921047 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020798.2 +1 provisional p.E716K 0.090 159 0% 175 31.4% 5 0% unknown(0) tolerated(0.15) - HMMPfam_UCH,superfamily_Cysteine proteinases ODZ4 26011 genome.wustl.edu 37 11 78372537 78372537 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098816.2 -1 validated p.L2503P 0.998 34 0% 36 22.2% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL ODZ4 26011 genome.wustl.edu 37 11 78413166 78413166 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098816.2 -1 validated p.T1498A 1.000 64 0% 58 32.8% 0 - benign(0.138) tolerated(0.51) neutral(0.020) superfamily_SSF101898,superfamily_TolB_C ODZ4 26011 genome.wustl.edu 37 11 78437226 78437226 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098816.2 -1 validated p.L1150M 1.000 265 0% 250 26% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL C11orf82 220042 genome.wustl.edu 37 11 82643161 82643161 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145018.3 +1 validated p.S261P 0.529 296 0% 206 26.7% 5 80% probably_damaging(0.959) tolerated(0.2) neutral(0.452) NULL RAB30 27314 genome.wustl.edu 37 11 82693236 82693236 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014488.3 -1 provisional p.S195G 1.000 170 0% 174 36.8% 4 50% benign(0.002) tolerated(0.2) neutral(0.049) NULL PCF11 51585 genome.wustl.edu 37 11 82875329 82875329 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015885.3 +1 validated p.K196N 1.000 66 0% 60 36.7% 2 0% probably_damaging(0.999) tolerated(0.22) deleterious(0.532) NULL PCF11 51585 genome.wustl.edu 37 11 82877046 82877046 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015885.3 +1 validated p.K369N 1.000 86 0% 73 37% 3 33.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL PCF11 51585 genome.wustl.edu 37 11 82892086 82892086 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015885.3 +1 validated p.G1340 0.997 22 0% 23 52.2% 8 37.5% - - - NULL ANKRD42 338699 genome.wustl.edu 37 11 82936079 82936079 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182603.2 +1 validated p.D229Y 0.000 309 0% 279 33.7% 1 0% benign(0.282) deleterious(0.03) neutral(0.451) superfamily_Ankyrin repeat DLG2 1740 genome.wustl.edu 37 11 83170881 83170881 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142699.1 -1 reviewed p.P970S 1.000 127 0% 81 30.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gua_kin_assoc_C,superfamily_P-loop containing nucleoside triphosphate hydrolases SYTL2 54843 genome.wustl.edu 37 11 85406250 85406250 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206927.2 -1 reviewed p.K1269N 1.000 228 0% 178 29.2% 11 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYTL2 54843 genome.wustl.edu 37 11 85435681 85435681 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206927.2 -1 reviewed p.E607* 0.994 179 0% 200 13% 0 - - - - NULL SYTL2 54843 genome.wustl.edu 37 11 85436343 85436343 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206927.2 -1 reviewed p.S386L 1.000 207 0% 169 30.8% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL SYTL2 54843 genome.wustl.edu 37 11 85437437 85437437 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206927.2 -1 reviewed p.F21L 1.000 175 0% 159 27.7% 0 - possibly_damaging(0.888) deleterious(0) deleterious(0.792) NULL EED 8726 genome.wustl.edu 37 11 85968611 85968611 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003797.2 +1 reviewed p.P203T 1.000 134 0% 71 28.2% 23 30.4% benign(0.34) deleterious(0.02) deleterious(0.490) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CCDC81 60494 genome.wustl.edu 37 11 86119247 86119247 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021827.4 +1 validated p.E260K 0.965 135 0% 119 22.7% 0 - benign(0.109) tolerated(0.24) neutral(0.046) NULL FZD4 8322 genome.wustl.edu 37 11 86662421 86662421 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012193.2 -1 reviewed p.I459 1.000 224 0% 158 34.2% 8 50% - - - HMMPfam_Frizzled RAB38 23682 genome.wustl.edu 37 11 87847222 87847222 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022337.1 -1 provisional p.P190 0.641 225 0% 233 31.8% 4 50% - - - superfamily_SSF52540 CTSC 1075 genome.wustl.edu 37 11 88027550 88027550 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001814.4 -1 reviewed p.R339H 0.976 263 0% 246 28% 184 17.9% possibly_damaging(0.819) deleterious(0.04) deleterious(0.658) HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases GRM5 2915 genome.wustl.edu 37 11 88300439 88300439 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143831.2 -1 reviewed p.F804L 1.000 115 0% 108 25% 0 - benign(0.312) tolerated(0.16) neutral(0.157) HMMPfam_7tm_3 GRM5 2915 genome.wustl.edu 37 11 88300757 88300757 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143831.2 -1 reviewed p.F698L 1.000 182 0% 146 28.8% 0 - benign(0.039) tolerated(0.47) neutral(0.013) HMMPfam_7tm_3 GRM5 2915 genome.wustl.edu 37 11 88301134 88301134 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143831.2 -1 reviewed p.L573I 1.000 67 0% 60 20% 0 - benign(0.228) tolerated(0.23) neutral(0.064) NULL TYR 7299 genome.wustl.edu 37 11 88911626 88911626 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000372.4 +1 reviewed p.D169N 0.964 329 0% 342 31.3% 0 - benign(0.017) tolerated(1) neutral(0.001) superfamily_Di-copper centre-containing domain TYR 7299 genome.wustl.edu 37 11 88911710 88911710 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000372.4 +1 reviewed p.D197Y 0.992 295 1.4% 342 27.5% 0 - benign(0.296) deleterious(0.01) deleterious(0.497) HMMPfam_Tyrosinase,superfamily_Di-copper centre-containing domain TYR 7299 genome.wustl.edu 37 11 89018028 89018028 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000372.4 +1 reviewed p.S424 1.000 125 0% 152 31.6% 0 - - - - superfamily_Di-copper centre-containing domain NOX4 50507 genome.wustl.edu 37 11 89059917 89059917 + RNA SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_026571.1 -1 reviewed NULL 0.000 137 0% 116 36.2% 12 0% - - - - NOX4 50507 genome.wustl.edu 37 11 89135536 89135536 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016931.3 -1 reviewed p.K268N 1.000 150 0% 153 26.8% 5 0% benign(0.001) tolerated(0.43) neutral(0.013) NULL FOLH1B 219595 genome.wustl.edu 37 11 89409313 89409313 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153696.2 +1 provisional p.I142T 1.000 198 0% 146 26% 1 0% - - - HMMPfam_Peptidase_M28,superfamily_SSF53187 ENSG00000204455 0 genome.wustl.edu 37 11 89595687 89595687 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000311917 +1 known p.L340I 0.002 286 0% 215 14% 0 - - - - NULL LOC653111 653111 genome.wustl.edu 37 11 89771028 89771028 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_926073.2 +1 model p.E207* 0.001 537 0% 420 16.4% 0 - - - - NULL ENSG00000204449 0 genome.wustl.edu 37 11 89806334 89806334 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000432771 +1 known p.L373I 0.004 214 0% 219 24.2% 0 - possibly_damaging(0.859) tolerated(0.07) deleterious(0.651) HMMPfam_SPRY ENSG00000204449 0 genome.wustl.edu 37 11 89806542 89806542 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000432771 +1 known p.Y442C 0.000 81 0% 77 23.4% 0 - benign(0) tolerated(0.82) neutral(0.001) NULL UBTFL1 642623 genome.wustl.edu 37 11 89819391 89819391 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143975.1 +1 provisional p.K92Q 0.011 165 0% 177 28.8% 0 - - - - superfamily_HMG-box FAT3 120114 genome.wustl.edu 37 11 92534885 92534885 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008781.2 +1 validated p.F2902L 1.000 111 0% 87 34.5% 0 - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92568049 92568049 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008781.2 +1 validated p.V3295 0.043 44 0% 31 32.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92569796 92569796 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008781.2 +1 validated p.D3384V 1.000 145 0% 132 31.8% 0 - possibly_damaging(0.804) deleterious(0) deleterious(0.747) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92599960 92599960 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008781.2 +1 validated p.I3904 0.423 29 0% 23 21.7% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 FAT3 120114 genome.wustl.edu 37 11 92616096 92616096 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008781.2 +1 validated p.I4158 1.000 38 0% 25 28% 0 - - - - NULL SLC36A4 120103 genome.wustl.edu 37 11 92901188 92901188 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152313.2 -1 provisional p.K230N 1.000 189 0.5% 152 38.2% 3 0% possibly_damaging(0.734) deleterious(0.01) deleterious(0.674) HMMPfam_Aa_trans CCDC67 159989 genome.wustl.edu 37 11 93122238 93122238 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181645.3 +1 validated p.E330* 0.998 64 0% 54 20.4% 0 - - - - NULL C11orf54 28970 genome.wustl.edu 37 11 93494810 93494810 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014039.2 +1 provisional p.R252C 1.000 130 0% 146 26.7% 9 77.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1907 MED17 9440 genome.wustl.edu 37 11 93545144 93545144 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004268.4 +1 reviewed p.E624K 1.000 289 0% 176 26.7% 42 47.6% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_DUF2364 HEPHL1 341208 genome.wustl.edu 37 11 93815725 93815725 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098672.1 +1 validated p.R620* 0.990 88 0% 68 27.9% 0 - - - - superfamily_Cupredoxin PANX1 24145 genome.wustl.edu 37 11 93912852 93912852 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015368.3 +1 reviewed p.I210 0.281 123 0% 114 24.6% 6 50% - - - NULL MRE11A 4361 genome.wustl.edu 37 11 94163104 94163104 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005591.3 -1 reviewed p.S681 0.045 245 0% 164 24.4% 12 16.6% - - - NULL AMOTL1 154810 genome.wustl.edu 37 11 94599145 94599145 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130847.2 +1 reviewed p.A767D 1.000 50 0% 48 31.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDM4DL 390245 genome.wustl.edu 37 11 94758911 94758911 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000450979 +1 known p.E64K 0.015 29 0% 34 26.5% 0 - benign(0.054) tolerated(0.82) neutral(0.004) NULL SESN3 143686 genome.wustl.edu 37 11 94917635 94917635 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144665.2 -1 provisional p.E296* 1.000 244 0% 216 31.5% 3 0% - - - HMMPfam_PA26 SESN3 143686 genome.wustl.edu 37 11 94917748 94917748 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144665.2 -1 provisional p.S258Y 0.963 277 0% 204 29.9% 5 0% benign(0) tolerated(0.1) neutral(0.286) HMMPfam_PA26 CEP57 9702 genome.wustl.edu 37 11 95546669 95546669 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014679.3 +1 validated p.C140 1.000 112 0% 117 40.2% 5 20% - - - NULL CEP57 9702 genome.wustl.edu 37 11 95546701 95546701 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014679.3 +1 validated p.R151Q 0.993 110 0% 111 26.1% 14 57.1% probably_damaging(0.968) deleterious(0.01) deleterious(0.816) HMMPfam_DUF1167 CEP57 9702 genome.wustl.edu 37 11 95555714 95555714 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014679.3 +1 validated p.G287S 1.000 98 0% 92 31.5% 26 42.3% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_DUF1167 CEP57 9702 genome.wustl.edu 37 11 95564210 95564210 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014679.3 +1 validated p.E431D 0.992 194 0% 120 10.8% 22 4.5% benign(0.001) tolerated(0.52) neutral(0.009) NULL MTMR2 8898 genome.wustl.edu 37 11 95568386 95568386 + RNA SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_023356.2 -1 reviewed NULL 0.000 59 0% 50 34% 16 56.2% - - - - MTMR2 8898 genome.wustl.edu 37 11 95578235 95578235 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016156.5 -1 reviewed p.R423H 1.000 196 0% 130 16.2% 27 14.8% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799 CCDC82 79780 genome.wustl.edu 37 11 96116438 96116438 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024725.3 -1 validated p.S329Y 1.000 95 0% 85 24.7% 7 71.4% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL CNTN5 53942 genome.wustl.edu 37 11 99715827 99715827 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014361.2 +1 reviewed p.R137Q 1.000 130 0% 121 33.1% 0 - probably_damaging(0.987) tolerated(0.18) deleterious(0.492) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CNTN5 53942 genome.wustl.edu 37 11 99715881 99715881 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014361.2 +1 reviewed p.G155D 1.000 155 0% 120 20.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CNTN5 53942 genome.wustl.edu 37 11 99786795 99786795 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014361.2 +1 reviewed p.N196I 1.000 92 0% 73 30.1% 0 - probably_damaging(0.988) tolerated(0.12) deleterious(0.698) HMMPfam_V-set,superfamily_Immunoglobulin CNTN5 53942 genome.wustl.edu 37 11 100095460 100095460 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014361.2 +1 reviewed p.L641I 1.000 157 0% 140 30.7% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PGR 5241 genome.wustl.edu 37 11 100996850 100996850 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000926.4 -1 reviewed p.F559 0.990 71 0% 43 16.3% 0 - - - - HMMPfam_Prog_receptor KIAA1377 57562 genome.wustl.edu 37 11 101833716 101833716 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020802.2 +1 validated p.K650N 0.000 196 0% 192 29.7% 0 - probably_damaging(0.978) tolerated(0.13) deleterious(0.673) NULL C11orf70 85016 genome.wustl.edu 37 11 101946688 101946688 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032930.1 +1 predicted p.L136I 1.000 261 0% 241 32.4% 1 0% possibly_damaging(0.748) tolerated(0.09) deleterious(0.571) NULL MMP20 9313 genome.wustl.edu 37 11 102480739 102480739 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004771.3 -1 reviewed p.F182 0.957 34 0% 34 35.3% 0 - - - - "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" MMP27 64066 genome.wustl.edu 37 11 102564788 102564788 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022122.2 -1 reviewed p.F348V 0.867 261 0% 191 29.8% 0 - benign(0.009) tolerated(0.35) neutral(0.021) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP8 4317 genome.wustl.edu 37 11 102589167 102589167 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002424.2 -1 reviewed p.I254 0.999 48 0% 52 30.8% 0 - - - - HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_SSF55486 MMP10 4319 genome.wustl.edu 37 11 102643601 102643601 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002425.2 -1 reviewed p.F401L 1.000 428 0% 431 29% 19 36.8% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP12 4321 genome.wustl.edu 37 11 102743826 102743826 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000326227 -1 known p.F40C 0.796 52 0% 49 26.5% 47 0% - - - HMMPfam_PG_binding_1,superfamily_PGBD-like MMP13 4322 genome.wustl.edu 37 11 102824942 102824942 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002427.3 -1 reviewed p.N194D 1.000 97 0% 107 32.7% 1 0% benign(0) tolerated(0.05) neutral(0.345) HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_SSF55486 DYNC2H1 79659 genome.wustl.edu 37 11 102993572 102993572 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080463.1 +1 reviewed p.I502L 1.000 53 0% 59 22% 0 - benign(0) tolerated(0.39) neutral(0.016) HMMPfam_DHC_N1 DYNC2H1 79659 genome.wustl.edu 37 11 103006639 103006639 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080463.1 +1 reviewed p.L846 1.000 125 0% 107 11.2% 0 - - - - NULL DYNC2H1 79659 genome.wustl.edu 37 11 103014071 103014071 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080463.1 +1 reviewed p.E883D 1.000 183 0% 160 30% 0 - possibly_damaging(0.823) deleterious(0) deleterious(0.756) NULL DYNC2H1 79659 genome.wustl.edu 37 11 103055624 103055624 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080463.1 +1 reviewed e41-1 1.000 151 0% 125 25.6% 0 - - - - - DYNC2H1 79659 genome.wustl.edu 37 11 103092844 103092844 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080463.1 +1 reviewed p.E3065* 1.000 227 0% 131 32.8% 0 - - - - NULL DYNC2H1 79659 genome.wustl.edu 37 11 103157039 103157039 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080463.1 +1 reviewed p.R3656H 0.902 468 0% 376 32.2% 0 - benign(0.03) tolerated(0.13) neutral(0.254) HMMPfam_Dynein_heavy DYNC2H1 79659 genome.wustl.edu 37 11 103175372 103175372 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080463.1 +1 reviewed p.E3776K 1.000 103 0% 79 26.6% 1 0% benign(0.201) tolerated(0.17) neutral(0.078) HMMPfam_Dynein_heavy DYNC2H1 79659 genome.wustl.edu 37 11 103191850 103191850 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080463.1 +1 reviewed p.L3947I 1.000 46 0% 38 28.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy PDGFD 80310 genome.wustl.edu 37 11 103866948 103866948 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025208.4 -1 reviewed p.I119V 0.000 139 0% 103 35.9% 0 - benign(0.001) tolerated(0.5) neutral(0.010) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DDI1 414301 genome.wustl.edu 37 11 103907763 103907763 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001711.2 +1 validated p.I71 0.000 108 0% 108 25% 0 - - - - HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 DDI1 414301 genome.wustl.edu 37 11 103908440 103908440 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001711.2 +1 validated p.R297I 0.636 136 0% 112 33.9% 0 - benign(0) deleterious(0.03) neutral(0.364) superfamily_Pept_Aspartic,HMMPfam_Asp_protease LOC643733 643733 genome.wustl.edu 37 11 104777773 104777773 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_078449.1 -1 model NULL 0.003 57 0% 49 18.4% 0 - - - - - CASP4 837 genome.wustl.edu 37 11 104819264 104819264 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001225.3 -1 reviewed p.T307 0.074 188 0% 167 32.3% 39 12.8% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CASP5 838 genome.wustl.edu 37 11 104866559 104866559 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136112.1 -1 reviewed p.S419* 0.821 170 0% 135 25.9% 0 - - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CASP5 838 genome.wustl.edu 37 11 104879560 104879560 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136112.1 -1 reviewed p.T65M 0.000 203 0% 190 35.3% 1 0% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL CASP1 834 genome.wustl.edu 37 11 104901168 104901168 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033292.2 -1 reviewed p.E172 0.991 188 0% 164 31.7% 17 0% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CASP1 834 genome.wustl.edu 37 11 104905180 104905180 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033292.2 -1 reviewed p.R10I 0.138 784 0% 633 30.6% 14 0% benign(0.002) deleterious(0) neutral(0.445) HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain CARD18 59082 genome.wustl.edu 37 11 105009777 105009777 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021571.3 -1 validated p.F10C 0.005 344 0% 322 26.4% 0 - benign(0.006) tolerated(0.1) neutral(0.286) NULL GRIA4 2893 genome.wustl.edu 37 11 105483047 105483047 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000829.3 +1 reviewed p.R45* 1.000 189 0% 156 25.6% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 MSANTD4 84437 genome.wustl.edu 37 11 105880322 105880322 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032424.1 -1 validated p.K326N 1.000 554 0% 375 24.3% 6 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AASDHPPT 60496 genome.wustl.edu 37 11 105950307 105950307 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015423.2 +1 reviewed p.S99 0.369 109 0% 76 25% 21 52.3% - - - superfamily_4-PPT_transf GUCY1A2 2977 genome.wustl.edu 37 11 106849425 106849425 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000855.1 -1 validated p.R136K 1.000 170 0% 108 41.7% 0 - benign(0.004) tolerated(0.87) neutral(0.001) HMMPfam_HNOB ALKBH8 91801 genome.wustl.edu 37 11 107403074 107403074 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138775.2 -1 validated p.R277Q 1.000 142 0% 91 25.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_2OG-FeII_Oxy SLC35F2 54733 genome.wustl.edu 37 11 107686657 107686657 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017515.4 -1 validated p.L49V 0.992 165 0% 180 29.4% 13 53.8% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMPfam_DUF914 NPAT 4863 genome.wustl.edu 37 11 108044135 108044135 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002519.2 -1 validated p.L526I 0.017 200 0% 187 24.1% 4 25% probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL NPAT 4863 genome.wustl.edu 37 11 108044250 108044250 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002519.2 -1 validated p.K487N 0.811 319 0% 247 34.4% 2 100% possibly_damaging(0.853) deleterious(0.04) deleterious(0.677) NULL NPAT 4863 genome.wustl.edu 37 11 108056139 108056139 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002519.2 -1 validated p.F270C 1.000 57 0% 31 38.7% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ATM 472 genome.wustl.edu 37 11 108115595 108115595 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000051.3 +1 reviewed p.R248Q 1.000 141 0% 146 28.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATM 472 genome.wustl.edu 37 11 108119694 108119694 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000051.3 +1 reviewed p.S367F 1.000 108 0% 96 35.4% 0 - possibly_damaging(0.527) deleterious(0) deleterious(0.623) superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108153592 108153592 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000051.3 +1 reviewed p.I1244 0.662 120 0% 103 26.2% 0 - - - - superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108155074 108155074 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000051.3 +1 reviewed p.K1289N 1.000 173 0% 137 29.2% 0 - benign(0.253) deleterious(0.01) neutral(0.432) superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108205756 108205756 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000051.3 +1 reviewed p.R2691C 1.000 134 0% 123 30.1% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108214018 108214018 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000051.3 +1 reviewed p.L2780I 1.000 189 0% 203 16.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat EXPH5 23086 genome.wustl.edu 37 11 108381052 108381052 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015065.2 -1 validated p.E1728K 0.025 219 0% 208 36.1% 2 100% benign(0.023) deleterious(0.01) neutral(0.407) NULL EXPH5 23086 genome.wustl.edu 37 11 108381248 108381248 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015065.2 -1 validated p.N1662 0.005 286 0% 259 31.7% 2 0% - - - NULL EXPH5 23086 genome.wustl.edu 37 11 108381619 108381619 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015065.2 -1 validated p.E1539K 0.000 106 0% 134 19.4% 2 100% benign(0.023) deleterious(0.01) neutral(0.407) NULL ZC3H12C 85463 genome.wustl.edu 37 11 110035666 110035666 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033390.1 +1 validated p.I619T 0.950 143 0.7% 171 39.2% 0 - benign(0.022) deleterious(0) neutral(0.446) NULL RDX 5962 genome.wustl.edu 37 11 110128562 110128562 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002906.3 -1 reviewed p.N210H 1.000 195 0% 166 34.9% 17 58.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_C,superfamily_PH domain-like ARHGAP20 57569 genome.wustl.edu 37 11 110450110 110450110 + Frame_Shift_Del DEL A A - novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020809.2 -1 validated p.L1187fs 0.002 - - - - - - - - - NULL ARHGAP20 57569 genome.wustl.edu 37 11 110451546 110451546 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020809.2 -1 validated p.I708 0.000 128 0% 121 65.3% 0 - - - - NULL ARHGAP20 57569 genome.wustl.edu 37 11 110461423 110461423 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020809.2 -1 validated p.V418 0.000 124 0% 89 28.1% 0 - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP20 57569 genome.wustl.edu 37 11 110485315 110485315 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020809.2 -1 validated p.I200 1.000 141 0% 111 9.9% 0 - - - - HMMPfam_RA LOC120364 120364 genome.wustl.edu 37 11 110658759 110658759 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_062025.5 -1 model p.R314I 0.026 61 0% 68 32.4% 0 - - - - NULL LOC120364 120364 genome.wustl.edu 37 11 110659333 110659333 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_062025.5 -1 model p.D123Y 1.000 138 0% 134 29.1% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD BTG4 54766 genome.wustl.edu 37 11 111369495 111369495 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017589.2 -1 reviewed p.D3Y 1.000 86 0% 66 28.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_BTG,HMMSmart_btg1 C11orf88 399949 genome.wustl.edu 37 11 111385527 111385527 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207430.2 +1 validated p.S6 0.000 34 0% 25 44% 0 - - - - NULL SDHD 6392 genome.wustl.edu 37 11 111958593 111958593 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000375549 +1 known p.R22Q 0.039 434 0% 427 34% 146 34.9% possibly_damaging(0.657) tolerated(0.19) neutral(0.281) HMMPfam_CybS NCAM1 4684 genome.wustl.edu 37 11 113076886 113076886 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000401611 +1 known p.I86 1.000 536 0% 406 29.8% 1 100% - - - superfamily_SSF48726 NCAM1 4684 genome.wustl.edu 37 11 113126684 113126684 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000401611 +1 known p.G545 0.460 18 0% 20 30% 6 66.6% - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TTC12 54970 genome.wustl.edu 37 11 113196360 113196360 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017868.3 +1 validated p.R146Q 1.000 257 0% 255 46.3% 12 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,superfamily_ARM-type_fold,HMMSmart_TPR,superfamily_SSF48452 ANKK1 255239 genome.wustl.edu 37 11 113270738 113270738 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178510.1 +1 reviewed p.A683T 0.409 72 0% 55 12.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ZBTB16 7704 genome.wustl.edu 37 11 113934930 113934930 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001018011.1 +1 reviewed p.A303V 0.300 32 0% 33 21.2% 0 - benign(0) tolerated(0.17) neutral(0.059) NULL FAM55A 120400 genome.wustl.edu 37 11 114393771 114393771 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152315.2 -1 validated p.P171L 0.000 229 0% 178 29.8% 0 - benign(0.007) tolerated(0.23) neutral(0.042) NULL FAM55B 120406 genome.wustl.edu 37 11 114568889 114568889 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182495.5 +1 validated p.K85N 0.000 142 0% 160 30% 0 - benign(0.025) tolerated(0.1) neutral(0.287) NULL FAM55B 120406 genome.wustl.edu 37 11 114569388 114569388 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182495.5 +1 validated p.A252S 1.000 174 0% 165 23% 0 - possibly_damaging(0.917) tolerated(0.37) neutral(0.387) NULL SIK3 23387 genome.wustl.edu 37 11 116718322 116718322 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000445177 -1 known p.T1268A 0.986 199 0% 256 23.8% 9 66.6% - - - NULL PCSK7 9159 genome.wustl.edu 37 11 117089223 117089223 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004716.2 -1 reviewed p.A498V 0.818 129 0% 92 39.1% 21 42.8% benign(0) tolerated(0.34) neutral(0.023) superfamily_Gal_bind_like RNF214 257160 genome.wustl.edu 37 11 117150675 117150675 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077239.1 +1 validated p.I337M 1.000 149 0% 226 31% 10 40% benign(0.386) tolerated(0.09) neutral(0.420) NULL RNF214 257160 genome.wustl.edu 37 11 117152058 117152058 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077239.1 +1 validated p.R392C 1.000 230 0% 215 33% 23 26% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL RNF214 257160 genome.wustl.edu 37 11 117153160 117153160 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077239.1 +1 validated p.R585C 1.000 197 0% 171 12.9% 10 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CEP164 22897 genome.wustl.edu 37 11 117261929 117261929 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014956.4 +1 validated p.E761* 0.994 38 0% 43 18.6% 0 - - - - NULL CEP164 22897 genome.wustl.edu 37 11 117265847 117265847 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014956.4 +1 validated p.T951 0.000 127 0% 116 26.7% 2 100% - - - NULL CEP164 22897 genome.wustl.edu 37 11 117278669 117278669 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014956.4 +1 validated p.S1177L 0.969 19 0% 28 28.6% 3 0% benign(0.423) tolerated(0.21) neutral(0.181) NULL DSCAML1 57453 genome.wustl.edu 37 11 117306399 117306399 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020693.2 -1 provisional p.R1673C 0.997 104 0% 119 26.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DSCAML1 57453 genome.wustl.edu 37 11 117314720 117314720 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020693.2 -1 provisional p.L1308 0.910 60 0% 75 40% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DSCAML1 57453 genome.wustl.edu 37 11 117332197 117332197 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020693.2 -1 provisional p.R1187 1.000 103 0% 64 18.8% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DSCAML1 57453 genome.wustl.edu 37 11 117651280 117651280 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020693.2 -1 provisional p.D158N 1.000 72 0% 68 22.1% 0 - probably_damaging(1) tolerated(0.79) deleterious(0.501) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin FXYD6 53826 genome.wustl.edu 37 11 117712720 117712720 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022003.2 -1 reviewed p.D28N 0.997 268 0% 196 29.1% 4 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_ATP1G1_PLM_MAT8,PatternScan_FXYD TMPRSS4 56649 genome.wustl.edu 37 11 117978571 117978571 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019894.3 +1 reviewed p.R175C 0.972 56 0% 52 36.5% 95 57.8% possibly_damaging(0.946) deleterious(0.03) deleterious(0.754) HMMSmart_SM00202,superfamily_SRCR-like UBE4A 9354 genome.wustl.edu 37 11 118250261 118250261 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004788.2 +1 reviewed p.R565C 1.000 212 0% 222 27.9% 7 42.8% probably_damaging(0.986) tolerated(0.18) deleterious(0.490) HMMPfam_Ufd2P_core UBE4A 9354 genome.wustl.edu 37 11 118253482 118253482 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004788.2 +1 reviewed p.E737K 1.000 268 0% 293 26.6% 16 56.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ufd2P_core UBE4A 9354 genome.wustl.edu 37 11 118263606 118263606 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004788.2 +1 reviewed p.L1031F 1.000 237 0% 165 33.3% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_U-box,HMMSmart_SM00504,superfamily_RING/U-box MLL 4297 genome.wustl.edu 37 11 118347672 118347672 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005933.2 +1 validated p.K1103N 1.000 172 0% 161 23.6% 0 - possibly_damaging(0.922) - - NULL MLL 4297 genome.wustl.edu 37 11 118348798 118348798 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005933.2 +1 validated p.R1151* 1.000 355 0% 397 12.8% 0 - - - - HMMPfam_zf-CXXC MLL 4297 genome.wustl.edu 37 11 118362576 118362576 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005933.2 +1 validated p.S1643Y 1.000 139 0% 94 31.9% 0 - probably_damaging(0.995) - - HMMSmart_SM00297 MLL 4297 genome.wustl.edu 37 11 118373353 118373353 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005933.2 +1 validated p.V2246G 0.051 204 0% 188 30.9% 0 - benign(0.004) - - NULL MLL 4297 genome.wustl.edu 37 11 118373443 118373443 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005933.2 +1 validated p.K2276T 0.587 196 0% 180 28.3% 4 25% probably_damaging(0.98) - - NULL MLL 4297 genome.wustl.edu 37 11 118380737 118380737 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005933.2 +1 validated p.R3656W 1.000 215 0% 231 41.6% 7 28.5% probably_damaging(1) - - NULL ARCN1 372 genome.wustl.edu 37 11 118454682 118454682 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001655.4 +1 reviewed p.E202D 0.997 143 0% 144 25.7% 33 33.3% benign(0) tolerated(0.9) - NULL CXCR5 643 genome.wustl.edu 37 11 118764888 118764888 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032966.1 +1 reviewed p.T167M 0.410 55 0% 64 35.9% 1 0% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_7tm_1,superfamily_SSF81321 RPS25 6230 genome.wustl.edu 37 11 118886635 118886635 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001028.2 -1 reviewed p.V100L 1.000 187 0% 170 28.2% 543 37.7% unknown(0) - - HMMPfam_Ribosomal_S25 HINFP 25988 genome.wustl.edu 37 11 119003445 119003445 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015517.3 +1 validated p.R277C 1.000 210 0% 218 12.8% 14 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PDZD3 79849 genome.wustl.edu 37 11 119057128 119057128 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000392817 +1 known p.E86G 0.000 62 0% 44 31.8% 0 - unknown(0) - - superfamily_PDZ domain-like PDZD3 79849 genome.wustl.edu 37 11 119058935 119058935 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000454065 +1 known p.R381Q 0.000 17 0% 13 30.8% 0 - - - - NULL MFRP 83552 genome.wustl.edu 37 11 119215037 119215037 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031433.2 -1 reviewed p.Y321 1.000 17 0% 23 26.1% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain USP2 9099 genome.wustl.edu 37 11 119243603 119243603 + Silent SNP G G A rs35832174 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004205.4 -1 validated p.V196 0.022 59 0% 59 37.3% 1 0% - - - NULL LOC100130353 100130353 genome.wustl.edu 37 11 119274548 119274548 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_078444.1 +1 model NULL 1.000 75 0% 68 25% 0 - - - - - ARHGEF12 23365 genome.wustl.edu 37 11 120331410 120331410 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015313.1 +1 reviewed p.R853* 1.000 282 0% 220 30.5% 1 0% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ARHGEF12 23365 genome.wustl.edu 37 11 120351114 120351114 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015313.1 +1 reviewed p.E1404 1.000 209 0% 225 28.9% 6 0% - - - NULL TECTA 7007 genome.wustl.edu 37 11 120973381 120973381 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005422.2 +1 reviewed p.Y3D 1.000 176 0% 178 29.2% 0 - benign(0.072) tolerated(0.17) neutral(0.064) NULL TECTA 7007 genome.wustl.edu 37 11 120996030 120996030 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005422.2 +1 reviewed p.S408Y 1.000 165 0% 213 34.7% 0 - possibly_damaging(0.836) tolerated(0.35) neutral(0.340) HMMPfam_VWD,HMMSmart_SM00216 SORL1 6653 genome.wustl.edu 37 11 121429313 121429313 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003105.4 +1 reviewed p.T893A 1.000 282 0% 227 34.8% 10 30% probably_damaging(0.973) deleterious(0.03) deleterious(0.779) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain SORL1 6653 genome.wustl.edu 37 11 121437666 121437666 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003105.4 +1 reviewed p.P1023S 0.094 68 0% 45 35.6% 8 87.5% benign(0) tolerated(0.8) neutral(0.001) NULL SORL1 6653 genome.wustl.edu 37 11 121490578 121490578 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003105.4 +1 reviewed p.S1947 0.008 156 0% 212 25% 12 33.3% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III BLID 414899 genome.wustl.edu 37 11 121986473 121986473 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001786.2 -1 reviewed p.S53F 0.090 230 0.4% 213 26.3% 0 - unknown(0) - - NULL UBASH3B 84959 genome.wustl.edu 37 11 122669682 122669682 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032873.4 +1 validated p.D464N 0.974 99 0% 102 28.4% 4 0% benign(0.023) tolerated(0.08) neutral(0.301) HMMPfam_PGAM,superfamily_SSF53254 C11orf63 79864 genome.wustl.edu 37 11 122756816 122756816 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024806.2 +1 validated p.E87K 0.725 88 0% 87 21.8% 1 0% possibly_damaging(0.839) deleterious(0) deleterious(0.765) NULL C11orf63 79864 genome.wustl.edu 37 11 122774655 122774655 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024806.2 +1 validated p.Y123H 1.000 283 0% 302 29.5% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL C11orf63 79864 genome.wustl.edu 37 11 122775049 122775049 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024806.2 +1 validated p.H254P 1.000 220 0% 289 31.1% 1 0% benign(0.082) deleterious(0.02) neutral(0.389) NULL C11orf63 79864 genome.wustl.edu 37 11 122805287 122805287 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024806.2 +1 validated p.T380A 0.000 174 0% 138 16.7% 0 - benign(0) tolerated(1) - NULL C11orf63 79864 genome.wustl.edu 37 11 122817312 122817312 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024806.2 +1 validated p.V581M 0.995 90 0% 106 27.4% 1 0% possibly_damaging(0.631) deleterious(0) deleterious(0.665) NULL HSPA8 3312 genome.wustl.edu 37 11 122930229 122930229 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006597.3 -1 reviewed p.E358* 1.000 102 0% 123 36.6% 894 0.1% - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain GRAMD1B 57476 genome.wustl.edu 37 11 123396874 123396874 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020716.1 +1 validated p.L6 0.930 34 0% 31 16.1% 0 - - - - NULL ZNF202 7753 genome.wustl.edu 37 11 123597300 123597300 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003455.2 -1 validated p.A451V 0.003 195 0% 190 30.5% 1 0% benign(0.001) deleterious(0.02) neutral(0.383) superfamily_C2H2 and C2HC zinc fingers OR6M1 390261 genome.wustl.edu 37 11 123676994 123676994 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005325.1 -1 provisional p.R22* 0.001 301 0% 266 26.3% 0 - - - - superfamily_Family A G protein-coupled receptor-like TMEM225 338661 genome.wustl.edu 37 11 123753968 123753968 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013743.1 -1 provisional p.E185D 0.002 109 0% 84 19% 0 - possibly_damaging(0.868) tolerated(0.1) deleterious(0.623) NULL TMEM225 338661 genome.wustl.edu 37 11 123754010 123754010 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013743.1 -1 provisional p.C171 0.000 111 0% 88 25% 0 - - - - NULL OR4D5 219875 genome.wustl.edu 37 11 123810747 123810747 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001965.1 +1 provisional p.A142T 0.999 189 0% 165 28.5% 0 - benign(0) tolerated(0.53) neutral(0.007) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10S1 219873 genome.wustl.edu 37 11 123847767 123847767 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004474.1 -1 provisional p.L211R 0.627 76 0% 100 24% 0 - probably_damaging(0.986) tolerated(0.14) deleterious(0.684) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like VWA5A 4013 genome.wustl.edu 37 11 123988964 123988964 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130142.1 +1 validated p.S105 0.537 149 0% 130 35.4% 4 0% - - - HMMSmart_SM00609,HMMPfam_VIT VWA5A 4013 genome.wustl.edu 37 11 123993767 123993767 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130142.1 +1 validated p.D287 0.994 98 0% 61 14.8% 5 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like VWA5A 4013 genome.wustl.edu 37 11 123994992 123994992 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130142.1 +1 validated p.K405E 0.061 66 0% 65 36.9% 6 16.6% benign(0) tolerated(1) - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like VWA5A 4013 genome.wustl.edu 37 11 124013234 124013234 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130142.1 +1 validated p.I703 0.964 244 0% 230 32.2% 7 0% - - - NULL OR8G2 26492 genome.wustl.edu 37 11 124095783 124095783 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007249.1 +1 provisional p.A129V 0.002 297 0% 314 30.9% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR8G5 219865 genome.wustl.edu 37 11 124121008 124121008 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000341493 +1 known p.K196Q 0.150 343 0% 344 32.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8D1 283159 genome.wustl.edu 37 11 124179999 124179999 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002917.1 -1 provisional p.L222I 0.000 109 0% 103 27.2% 0 - benign(0.015) tolerated(0.68) neutral(0.003) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8D1 283159 genome.wustl.edu 37 11 124180394 124180394 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002917.1 -1 provisional p.N90T 0.001 200 0% 164 29.3% 0 - possibly_damaging(0.759) deleterious(0.02) deleterious(0.664) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8D2 283160 genome.wustl.edu 37 11 124189441 124189441 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002918.1 -1 provisional p.Y218C 0.703 461 0% 381 26% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PANX3 116337 genome.wustl.edu 37 11 124487171 124487171 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052959.2 +1 reviewed p.A109V 1.000 40 0% 51 41.2% 0 - benign(0) tolerated(0.61) neutral(0.004) NULL SIAE 54414 genome.wustl.edu 37 11 124507076 124507076 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170601.3 -1 validated p.R448Q 0.000 238 0% 242 26.9% 26 30.7% benign(0) tolerated(0.68) neutral(0.002) NULL ROBO3 64221 genome.wustl.edu 37 11 124740192 124740192 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022370.3 +1 reviewed p.T300A 0.000 45 0% 67 38.8% 0 - benign(0) tolerated(0.79) neutral(0.001) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ROBO3 64221 genome.wustl.edu 37 11 124742317 124742317 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022370.3 +1 reviewed p.R400H 1.000 70 0% 95 31.6% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ROBO4 54538 genome.wustl.edu 37 11 124754983 124754983 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019055.5 -1 validated p.I985 0.006 123 0% 87 40.2% 10 0% - - - NULL ROBO4 54538 genome.wustl.edu 37 11 124756692 124756692 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019055.5 -1 validated p.A821D 0.998 102 0% 78 37.2% 7 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CCDC15 80071 genome.wustl.edu 37 11 124857420 124857420 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025004.2 +1 validated p.V433A 0.071 596 0% 413 31% 0 - benign(0.278) tolerated(0.54) neutral(0.037) NULL CCDC15 80071 genome.wustl.edu 37 11 124875086 124875086 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025004.2 +1 validated p.E797* 1.000 44 0% 44 25% 1 0% - - - NULL CCDC15 80071 genome.wustl.edu 37 11 124908453 124908453 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025004.2 +1 validated p.E846 0.339 45 0% 54 42.6% 0 - - - - NULL FEZ1 9638 genome.wustl.edu 37 11 125325668 125325668 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000392709 -1 known p.C305 0.009 178 0% 169 32% 0 - - - - NULL HYLS1 219844 genome.wustl.edu 37 11 125770101 125770101 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134793.1 +1 reviewed p.R280C 1.000 95 0% 83 28.9% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DDX25 29118 genome.wustl.edu 37 11 125787139 125787139 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013264.3 +1 reviewed p.F344C 1.000 25 0% 29 24.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DCPS 28960 genome.wustl.edu 37 11 126174162 126174162 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014026.3 +1 validated p.F63V 0.983 43 0% 55 41.8% 23 30.4% probably_damaging(0.989) tolerated(1) neutral(0.440) HMMPfam_DcpS,superfamily_Scavenger_mRNA_decap_enz_N KIRREL3 84623 genome.wustl.edu 37 11 126314950 126314950 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032531.3 -1 reviewed p.D392 0.998 50 0% 37 18.9% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KIRREL3 84623 genome.wustl.edu 37 11 126333147 126333147 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032531.3 -1 reviewed p.P216H 0.999 51 0% 36 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin ETS1 2113 genome.wustl.edu 37 11 128354817 128354817 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143820.1 -1 validated p.R255* 1.000 238 0% 235 26.4% 30 0% - - - NULL ARHGAP32 9743 genome.wustl.edu 37 11 128842449 128842449 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142685.1 -1 validated p.R1304C 0.173 151 0% 126 25.4% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ARHGAP32 9743 genome.wustl.edu 37 11 128842738 128842738 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142685.1 -1 validated p.F1207L 0.025 165 0% 136 25% 9 11.1% possibly_damaging(0.643) deleterious(0.01) deleterious(0.631) NULL ARHGAP32 9743 genome.wustl.edu 37 11 128932239 128932239 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142685.1 -1 validated p.V286A 1.000 243 0% 184 28.3% 0 - possibly_damaging(0.717) deleterious(0) deleterious(0.704) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ARHGAP32 9743 genome.wustl.edu 37 11 128936724 128936724 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142685.1 -1 validated p.R177W 1.000 92 0% 74 23% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PX domain ARHGAP32 9743 genome.wustl.edu 37 11 128994780 128994780 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142685.1 -1 validated p.A79T 1.000 156 0% 110 29.1% 0 - benign(0.024) tolerated(0.42) neutral(0.015) NULL BARX2 8538 genome.wustl.edu 37 11 129306816 129306816 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003658.4 +1 reviewed p.E120K 1.000 55 0% 36 33.3% 0 - probably_damaging(0.99) tolerated(0.1) deleterious(0.728) NULL BARX2 8538 genome.wustl.edu 37 11 129321249 129321249 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003658.4 +1 reviewed p.P264 1.000 229 0.4% 203 34% 0 - - - - NULL ADAMTS15 170689 genome.wustl.edu 37 11 130319326 130319326 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139055.2 +1 reviewed p.G153V 1.000 22 0% 24 33.3% 0 - benign(0.054) tolerated(0.21) neutral(0.048) HMMPfam_Pep_M12B_propep SNX19 399979 genome.wustl.edu 37 11 130775920 130775920 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014758.2 -1 validated p.P791S 0.000 91 0% 79 32.9% 11 72.7% benign(0.001) deleterious(0.01) neutral(0.406) NULL SNX19 399979 genome.wustl.edu 37 11 130784751 130784751 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014758.2 -1 validated p.R362* 0.659 87 0% 93 29% 1 0% - - - NULL NTM 50863 genome.wustl.edu 37 11 131781417 131781417 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144058.1 +1 reviewed p.L14 0.996 43 0% 36 30.6% 6 0% - - - NULL NTM 50863 genome.wustl.edu 37 11 132081940 132081940 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144058.1 +1 reviewed p.S142Y 1.000 317 0% 297 27.3% 6 0% possibly_damaging(0.933) deleterious(0) deleterious(0.824) HMMPfam_I-set,superfamily_SSF48726 IGSF9B 22997 genome.wustl.edu 37 11 133795708 133795708 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014987.1 -1 validated p.A654T 0.984 27 0% 17 29.4% 0 - benign(0.01) tolerated(0.16) neutral(0.060) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like JAM3 83700 genome.wustl.edu 37 11 134010582 134010582 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032801.3 +1 reviewed p.S103L 1.000 183 0% 158 28.5% 1 0% benign(0.291) tolerated(0.06) neutral(0.412) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin NCAPD3 23310 genome.wustl.edu 37 11 134038450 134038450 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015261.2 -1 validated p.R1096Q 1.000 166 0% 124 27.4% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NCAPD3 23310 genome.wustl.edu 37 11 134076555 134076555 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015261.2 -1 validated p.A319T 0.001 144 0% 130 23.8% 5 0% benign(0.015) tolerated(0.49) neutral(0.011) superfamily_ARM-type_fold GLB1L2 89944 genome.wustl.edu 37 11 134241666 134241666 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138342.3 +1 validated p.I483 1.000 65 0% 44 31.8% 4 25% - - - NULL ENSG00000238823 0 genome.wustl.edu 37 12 73287 73287 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000458783 -1 novel NULL 0.002 467 0% 396 10.6% 0 - - - - - KDM5A 5927 genome.wustl.edu 37 12 432867 432867 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042603.1 -1 reviewed p.C683 0.999 171 0% 150 36% 5 40% - - - HMMPfam_zf-C5HC2 B4GALNT3 283358 genome.wustl.edu 37 12 667743 667743 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173593.3 +1 validated p.R893W 1.000 68 0% 41 31.7% 20 25% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nucleotide-diphospho-sugar transferases WNK1 65125 genome.wustl.edu 37 12 968486 968486 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018979.3 +1 reviewed p.E492D 1.000 174 0% 118 23.7% 2 0% benign(0.39) tolerated(0.06) neutral(0.448) superfamily_Kinase_like WNK1 65125 genome.wustl.edu 37 12 994530 994530 + Silent SNP A A G rs186880440 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018979.3 +1 reviewed p.E1520 0.997 581 0% 477 31% 18 44.4% - - - NULL ERC1 23085 genome.wustl.edu 37 12 1292569 1292569 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178040.2 +1 reviewed p.M713I 1.000 240 0% 192 21.9% 4 0% benign(0.039) tolerated(0.37) neutral(0.021) HMMPfam_Cast ERC1 23085 genome.wustl.edu 37 12 1345945 1345945 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178040.2 +1 reviewed p.D788Y 1.000 101 0% 90 32.2% 5 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cast WNT5B 81029 genome.wustl.edu 37 12 1755106 1755106 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030775.2 +1 reviewed p.R256 0.147 13 0% 21 47.6% 1 0% - - - HMMPfam_wnt,HMMSmart_SM00097 ADIPOR2 79602 genome.wustl.edu 37 12 1863601 1863601 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024551.2 +1 validated p.R31Q 0.000 206 0% 174 26.4% 16 50% benign(0.001) tolerated(0.56) neutral(0.006) NULL ADIPOR2 79602 genome.wustl.edu 37 12 1887161 1887161 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024551.2 +1 validated p.E145* 1.000 144 0% 142 38% 5 20% - - - HMMPfam_HlyIII CACNA1C 775 genome.wustl.edu 37 12 2714265 2714265 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199460.2 +1 reviewed p.V1013 0.015 100 0% 120 31.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1C 775 genome.wustl.edu 37 12 2742822 2742822 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199460.2 +1 reviewed p.F1306I 1.000 254 0% 268 27.6% 3 0% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels FKBP4 2288 genome.wustl.edu 37 12 2906325 2906325 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002014.3 +1 reviewed p.G43S 1.000 56 0% 50 26% 80 41.2% benign(0.234) tolerated(0.12) neutral(0.284) HMMPfam_FKBP_C,superfamily_SSF54534 FKBP4 2288 genome.wustl.edu 37 12 2907932 2907932 + Missense_Mutation SNP C C T rs142464168 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002014.3 +1 reviewed p.R152C 1.000 94 1.1% 80 22.5% 123 41.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF54534 FOXM1 2305 genome.wustl.edu 37 12 2968746 2968746 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_202002.1 -1 validated p.F488L 0.000 58 0% 75 30.7% 43 34.8% benign(0) tolerated(1) - NULL TEAD4 7004 genome.wustl.edu 37 12 3131142 3131142 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003213.2 +1 reviewed p.E286K 1.000 166 0% 110 31.8% 33 48.4% possibly_damaging(0.748) tolerated(0.05) deleterious(0.620) HMMPfam_TEA TSPAN9 10867 genome.wustl.edu 37 12 3310419 3310419 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006675.4 +1 reviewed p.F20L 1.000 147 0% 71 39.4% 18 5.5% benign(0.294) tolerated(0.29) neutral(0.120) HMMPfam_Tetraspannin PARP11 57097 genome.wustl.edu 37 12 3938117 3938117 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020367.4 -1 validated p.S76Y 1.000 114 0% 115 27.8% 0 - possibly_damaging(0.691) deleterious(0.04) deleterious(0.597) HMMPfam_WWE PARP11 57097 genome.wustl.edu 37 12 3939163 3939163 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020367.4 -1 validated p.E14* 0.993 109 0% 109 11% 0 - - - - NULL ENSG00000118976 0 genome.wustl.edu 37 12 3948688 3948688 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000237841 +1 known p.E74G 0.206 59 0% 32 28.1% 0 - - - - HMMPfam_OTU,superfamily_SSF54001 ENSG00000118976 0 genome.wustl.edu 37 12 3948700 3948700 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000237841 +1 known p.K78T 0.415 55 0% 35 37.1% 0 - - - - HMMPfam_OTU,superfamily_SSF54001 ENSG00000118976 0 genome.wustl.edu 37 12 3948790 3948790 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000237841 +1 known p.A108V 1.000 66 0% 54 31.5% 0 - - - - HMMPfam_OTU,superfamily_SSF54001 C12orf5 57103 genome.wustl.edu 37 12 4440457 4440457 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020375.2 +1 reviewed p.R15I 1.000 187 0% 162 25.9% 13 53.8% benign(0.202) deleterious(0.01) neutral(0.425) PatternScan_PG_MUTASE,HMMPfam_PGAM,superfamily_SSF53254 C12orf4 57102 genome.wustl.edu 37 12 4627253 4627253 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020374.2 -1 predicted p.R335Q 1.000 290 0% 200 59% 10 40% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_DUF2362 C12orf4 57102 genome.wustl.edu 37 12 4645341 4645341 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020374.2 -1 predicted p.R7I 1.000 99 0% 85 23.5% 0 - possibly_damaging(0.604) deleterious(0.03) deleterious(0.574) NULL GALNT8 26290 genome.wustl.edu 37 12 4853738 4853738 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017417.1 +1 reviewed p.P244 0.843 133 0% 90 27.8% 0 - - - - HMMPfam_Glycos_transf_2,superfamily_SSF53448 KCNA6 3742 genome.wustl.edu 37 12 4919815 4919815 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002235.3 +1 reviewed p.G203D 0.768 103 0% 107 44.9% 0 - benign(0.008) tolerated(0.63) neutral(0.004) superfamily_SSF81324 KCNA1 3736 genome.wustl.edu 37 12 5021358 5021358 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000217.2 +1 reviewed p.E272K 1.000 130 0% 123 29.3% 0 - possibly_damaging(0.853) tolerated(0.42) neutral(0.343) HMMPfam_Ion_trans,superfamily_SSF81324 LOC390282 390282 genome.wustl.edu 37 12 5141768 5141768 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_372447.5 -1 model p.A110T 1.000 102 0% 104 36.5% 0 - - - - NULL KCNA5 3741 genome.wustl.edu 37 12 5153773 5153773 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002234.2 +1 reviewed p.R154C 1.000 53 0% 53 39.6% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCNA5 3741 genome.wustl.edu 37 12 5154705 5154705 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002234.2 +1 reviewed p.F464L 1.000 77 0% 70 24.3% 0 - benign(0.396) deleterious(0.04) deleterious(0.476) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NTF3 4908 genome.wustl.edu 37 12 5604072 5604072 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102654.1 +1 reviewed p.N244S 1.000 95 0% 86 30.2% 0 - benign(0.032) deleterious(0) neutral(0.446) HMMPfam_NGF,HMMSmart_NGF,superfamily_SSF57501 ANO2 57101 genome.wustl.edu 37 12 5672680 5672680 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020373.2 -1 validated p.T928A 1.000 245 0% 226 35% 0 - benign(0.22) tolerated(0.34) neutral(0.044) HMMPfam_DUF590 ANO2 57101 genome.wustl.edu 37 12 5841701 5841701 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020373.2 -1 validated p.T510 0.021 94 0% 126 29.4% 0 - - - - NULL ANO2 57101 genome.wustl.edu 37 12 5860021 5860021 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020373.2 -1 validated p.I387L 0.975 71 0% 52 23.1% 0 - benign(0.008) tolerated(1) - NULL ANO2 57101 genome.wustl.edu 37 12 6031877 6031877 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020373.2 -1 validated p.K35R 0.020 20 0% 28 25% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL VWF 7450 genome.wustl.edu 37 12 6058327 6058327 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000552.3 -1 reviewed p.D2766N 0.499 56 0% 34 23.5% 81 1.2% benign(0.009) tolerated(0.08) neutral(0.300) HMMSmart_SM00041 VWF 7450 genome.wustl.edu 37 12 6138522 6138522 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000552.3 -1 reviewed p.K985E 1.000 374 0% 317 17.4% 7 0% possibly_damaging(0.793) deleterious(0.04) deleterious(0.647) HMMPfam_VWD,HMMSmart_SM00216 VWF 7450 genome.wustl.edu 37 12 6161870 6161870 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000552.3 -1 reviewed p.P675 1.000 60 0% 78 25.6% 1 0% - - - superfamily_Serine proterase inhibitors,HMMPfam_TIL TNFRSF1A 7132 genome.wustl.edu 37 12 6443283 6443283 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001065.2 -1 reviewed p.S56L 0.177 243 0% 215 32.6% 102 32.3% probably_damaging(0.99) tolerated(0.4) neutral(0.458) HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like CD27 939 genome.wustl.edu 37 12 6559425 6559425 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001242.4 +1 reviewed p.E119K 0.581 125 0% 98 22.4% 12 0% possibly_damaging(0.437) tolerated(0.62) neutral(0.146) superfamily_TNF receptor-like NCAPD2 9918 genome.wustl.edu 37 12 6640199 6640199 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014865.3 +1 validated p.K1359N 0.725 140 0% 96 35.4% 68 41.1% benign(0.299) tolerated(0.27) neutral(0.126) NULL CHD4 1108 genome.wustl.edu 37 12 6692411 6692411 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001273.2 -1 reviewed p.R1338I 1.000 220 0% 204 29.9% 86 29% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF1087 GPR162 27239 genome.wustl.edu 37 12 6935405 6935405 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019858.1 +1 reviewed p.R368C 1.000 40 0% 43 37.2% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL USP5 8078 genome.wustl.edu 37 12 6964599 6964599 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098536.1 +1 validated p.T49M 0.995 175 0% 185 32.4% 28 35.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL USP5 8078 genome.wustl.edu 37 12 6972496 6972496 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098536.1 +1 validated p.E637K 1.000 87 0% 85 29.4% 2 50% benign(0.139) tolerated(0.4) neutral(0.028) HMMPfam_UCH,superfamily_Cysteine proteinases ATN1 1822 genome.wustl.edu 37 12 7047644 7047644 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007026.1 +1 reviewed p.K840E 1.000 58 0% 69 36.2% 120 46.6% possibly_damaging(0.806) tolerated(0.09) deleterious(0.600) HMMPfam_Atrophin-1 C1S 716 genome.wustl.edu 37 12 7171588 7171588 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001734.3 +1 reviewed p.D137Y 1.000 394 0% 335 11.3% 99 0% possibly_damaging(0.545) deleterious(0.01) deleterious(0.591) HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_CA,superfamily_SSF57196 C1S 716 genome.wustl.edu 37 12 7177497 7177497 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001734.3 +1 reviewed p.D537Y 0.398 185 0.5% 178 11.2% 237 0.4% benign(0.004) deleterious(0) neutral(0.445) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys RBP5 83758 genome.wustl.edu 37 12 7280937 7280937 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031491.2 -1 provisional p.T51A 0.007 204 0% 203 30% 1 0% unknown(0) - - HMMPfam_Lipocalin,superfamily_Calycin CLSTN3 9746 genome.wustl.edu 37 12 7295599 7295599 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014718.3 +1 validated p.E559K 1.000 191 0% 216 30.1% 7 0% possibly_damaging(0.93) tolerated(0.18) neutral(0.432) NULL ACSM4 341392 genome.wustl.edu 37 12 7463195 7463195 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080454.1 +1 provisional p.R158Q 0.007 69 0% 59 39% 0 - benign(0.003) tolerated(1) - HMMPfam_AMP-binding,superfamily_SSF56801 CD163L1 283316 genome.wustl.edu 37 12 7519879 7519879 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174941.4 -1 reviewed p.M1411T 0.049 198 0% 153 27.5% 6 16.6% benign(0.008) - - NULL CD163L1 283316 genome.wustl.edu 37 12 7527243 7527243 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174941.4 -1 reviewed p.S1068 0.099 214 0% 152 26.3% 2 0% - - - HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like CD163L1 283316 genome.wustl.edu 37 12 7559321 7559321 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174941.4 -1 reviewed p.V298 0.574 245 0% 268 30.6% 3 0% - - - HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like CD163L1 283316 genome.wustl.edu 37 12 7586140 7586140 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174941.4 -1 reviewed p.P92Q 0.001 271 0% 323 42.4% 0 - possibly_damaging(0.816) tolerated(0.06) deleterious(0.631) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD163 9332 genome.wustl.edu 37 12 7635248 7635248 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004244.4 -1 validated p.R1080W 0.036 480 0% 313 32.9% 56 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL GDF3 9573 genome.wustl.edu 37 12 7842980 7842980 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020634.1 -1 reviewed p.N197H 0.472 141 0% 174 25.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CLEC4C 170482 genome.wustl.edu 37 12 7898972 7898972 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130441.2 -1 reviewed p.V27I 0.000 72 0% 67 28.4% 0 - benign(0.055) tolerated(1) neutral(0.004) NULL NANOG 79923 genome.wustl.edu 37 12 7947082 7947082 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024865.2 +1 validated p.M148I 1.000 75 0% 82 29.3% 0 - benign(0.392) deleterious(0.03) deleterious(0.490) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 SLC2A14 144195 genome.wustl.edu 37 12 7980164 7980164 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153449.2 -1 provisional p.V287A 0.014 62 0% 93 36.6% 0 - benign(0) tolerated(0.1) neutral(0.286) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter SLC2A14 144195 genome.wustl.edu 37 12 7985374 7985374 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153449.2 -1 provisional p.T42A 0.989 111 0% 127 26.8% 0 - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter SLC2A3 6515 genome.wustl.edu 37 12 8083103 8083103 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006931.2 -1 validated p.R216 0.993 242 0% 246 24.8% 8 0% - - - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter SLC2A3 6515 genome.wustl.edu 37 12 8084033 8084033 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006931.2 -1 validated p.C106* 1.000 185 0% 152 28.9% 10 0% - - - HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter C3AR1 719 genome.wustl.edu 37 12 8211364 8211364 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004054.2 -1 validated p.V473A 0.000 377 0% 353 30.3% 21 0% benign(0.001) tolerated(0.83) neutral(0.001) superfamily_Family A G protein-coupled receptor-like C3AR1 719 genome.wustl.edu 37 12 8211783 8211783 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004054.2 -1 validated p.L333 0.000 269 0% 327 15.6% 8 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like C3AR1 719 genome.wustl.edu 37 12 8212017 8212017 + Nonsense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004054.2 -1 validated p.Y255* 0.000 315 0% 359 11.7% 12 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CLEC4A 50856 genome.wustl.edu 37 12 8278259 8278259 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016184.3 +1 reviewed p.F62C 0.003 290 0% 183 32.8% 2 0% unknown(0) - - NULL ZNF705A 440077 genome.wustl.edu 37 12 8329638 8329638 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004328.2 +1 validated p.S121L 1.000 437 0% 422 32.2% 0 - benign(0) tolerated(0.88) - NULL ZNF705A 440077 genome.wustl.edu 37 12 8329731 8329731 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004328.2 +1 validated p.S152Y 0.010 485 0.2% 487 29.6% 0 - benign(0.404) deleterious(0.02) deleterious(0.513) superfamily_SSF57667 CLEC4E 26253 genome.wustl.edu 37 12 8689852 8689852 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014358.2 -1 reviewed p.K77N 0.949 273 0% 215 32.6% 8 0% possibly_damaging(0.894) tolerated(1) neutral(0.352) NULL CLEC4E 26253 genome.wustl.edu 37 12 8692500 8692500 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014358.2 -1 reviewed p.A27 0.565 762 0% 565 28% 5 0% - - - NULL AICDA 57379 genome.wustl.edu 37 12 8757968 8757968 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020661.2 -1 reviewed p.C90 0.982 90 0% 68 25% 0 - - - - HMMPfam_APOBEC_N,PatternScan_CYT_DCMP_DEAMINASES,superfamily_Cytidine deaminase-like MFAP5 8076 genome.wustl.edu 37 12 8800774 8800774 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003480.2 -1 reviewed p.G145 0.984 82 0% 75 36% 19 21% - - - NULL RIMKLB 57494 genome.wustl.edu 37 12 8906545 8906545 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020734.2 +1 validated p.R185C 1.000 218 0% 201 26.4% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RimK,superfamily_Glutathione synthetase ATP-binding domain-like A2ML1 144568 genome.wustl.edu 37 12 8995809 8995809 + Missense_Mutation SNP G G A rs142219499 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144670.3 +1 validated p.R443Q 0.001 202 0% 188 29.3% 1 100% benign(0.026) tolerated(0.49) neutral(0.011) NULL KLRG1 10219 genome.wustl.edu 37 12 9147794 9147794 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005810.3 +1 reviewed p.F89L 0.977 157 0% 123 34.1% 1 0% probably_damaging(0.99) tolerated(0.07) deleterious(0.760) HMMSmart_SM00034,superfamily_C-type lectin-like A2M 2 genome.wustl.edu 37 12 9232372 9232372 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000014.4 -1 reviewed p.L965R 1.000 77 0% 66 33.3% 143 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl A2M 2 genome.wustl.edu 37 12 9254154 9254154 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000014.4 -1 reviewed p.L461 0.510 75 0% 81 25.9% 57 0% - - - HMMPfam_A2M_N_2 A2M 2 genome.wustl.edu 37 12 9265066 9265066 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000014.4 -1 reviewed p.E113* 0.002 89 0% 71 32.4% 32 0% - - - HMMPfam_A2M_N CLECL1 160365 genome.wustl.edu 37 12 9875232 9875232 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172004.2 -1 validated p.F165C 0.011 145 0% 163 32.5% 0 - possibly_damaging(0.81) deleterious(0.01) deleterious(0.711) NULL CD69 969 genome.wustl.edu 37 12 9907003 9907003 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_026671.1 -1 reviewed NULL 0.000 34 0% 21 42.9% 0 - - - - - CD69 969 genome.wustl.edu 37 12 9907009 9907009 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_026671.1 -1 reviewed NULL 0.000 40 0% 23 26.1% 0 - - - - - KLRF1 51348 genome.wustl.edu 37 12 9985995 9985995 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016523.1 +1 provisional p.R94I 0.075 167 0% 125 27.2% 0 - possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL KLRF1 51348 genome.wustl.edu 37 12 9995030 9995030 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016523.1 +1 provisional p.K195N 0.004 231 0% 170 27.1% 0 - benign(0) tolerated(0.36) neutral(0.020) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CLEC2B 9976 genome.wustl.edu 37 12 10010205 10010205 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005127.2 -1 reviewed p.C35 0.435 80 0% 59 23.7% 13 0% - - - HMMSmart_SM00034,superfamily_C-type lectin-like CLEC12A 160364 genome.wustl.edu 37 12 10131978 10131978 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138337.5 +1 reviewed p.L78 0.406 85 0% 54 29.6% 0 - - - - NULL CLEC12A 160364 genome.wustl.edu 37 12 10133194 10133194 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138337.5 +1 reviewed p.K131N 0.973 284 0% 242 22.7% 1 0% probably_damaging(1) tolerated(0.76) deleterious(0.501) NULL CLEC1A 51267 genome.wustl.edu 37 12 10251413 10251413 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016511.2 -1 reviewed p.R37C 0.000 28 0% 22 40.9% 0 - probably_damaging(0.968) deleterious(0.01) deleterious(0.816) NULL CLEC7A 64581 genome.wustl.edu 37 12 10277698 10277698 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000354721 -1 known p.Q189 0.033 34 0% 45 35.6% 0 - - - - NULL CLEC7A 64581 genome.wustl.edu 37 12 10280284 10280284 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000422474 -1 known p.R88 0.000 33 0% 48 22.9% 0 - - - - NULL CLEC7A 64581 genome.wustl.edu 37 12 10282656 10282656 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_197947.2 -1 reviewed p.N9S 0.198 45 0% 40 27.5% 3 0% probably_damaging(0.996) tolerated(0.25) deleterious(0.498) NULL KLRD1 3824 genome.wustl.edu 37 12 10462017 10462017 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114396.1 +1 reviewed p.S13Y 0.578 119 0% 78 38.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KLRC1 3821 genome.wustl.edu 37 12 10599254 10599254 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002259.4 -1 reviewed p.D200Y 0.000 231 0% 170 29.4% 1 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ENSG00000180574 0 genome.wustl.edu 37 12 10658601 10658601 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000322446 +1 known p.E34K 0.972 71 0% 83 37.3% 4 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL STYK1 55359 genome.wustl.edu 37 12 10783817 10783817 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018423.2 -1 validated p.E93G 0.994 202 0% 207 37.7% 0 - benign(0.178) tolerated(0.1) neutral(0.303) NULL TAS2R7 50837 genome.wustl.edu 37 12 10954291 10954291 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023919.2 -1 reviewed p.R293 0.062 108 0.9% 114 22.8% 2 0% - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R7 50837 genome.wustl.edu 37 12 10954570 10954570 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023919.2 -1 reviewed p.S200 0.000 63 0% 96 30.2% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R8 50836 genome.wustl.edu 37 12 10958824 10958824 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023918.1 -1 reviewed p.I252M 0.001 146 0% 142 31% 0 - benign(0.013) deleterious(0.03) neutral(0.365) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R10 50839 genome.wustl.edu 37 12 10978177 10978177 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023921.1 -1 reviewed p.S231Y 0.954 273 0% 216 34.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R13 50838 genome.wustl.edu 37 12 11061021 11061021 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023920.2 -1 reviewed p.L293I 0.000 178 0% 147 29.3% 0 - possibly_damaging(0.555) deleterious(0) deleterious(0.634) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R13 50838 genome.wustl.edu 37 12 11061365 11061365 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023920.2 -1 reviewed p.S178L 0.000 231 0% 199 29.6% 0 - benign(0) tolerated(0.18) neutral(0.056) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R50 259296 genome.wustl.edu 37 12 11138638 11138638 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176890.2 -1 validated p.F274 0.000 261 0% 210 24.3% 0 - - - - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R50 259296 genome.wustl.edu 37 12 11138717 11138717 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176890.2 -1 validated p.S248L 0.000 262 0% 231 28.6% 0 - benign(0.016) deleterious(0.03) neutral(0.365) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R30 259293 genome.wustl.edu 37 12 11286486 11286486 + Missense_Mutation SNP G G A rs111498087 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001097643.1 -1 provisional p.R120C 0.000 448 0% 363 34.2% 0 - benign(0.002) deleterious(0.01) neutral(0.406) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like ETV6 2120 genome.wustl.edu 37 12 11905391 11905391 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001987.4 +1 reviewed p.R14Q 1.000 219 0% 220 10% 5 0% benign(0.144) tolerated(0.22) neutral(0.055) NULL LRP6 4040 genome.wustl.edu 37 12 12291438 12291438 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002336.2 -1 reviewed p.N1143T 1.000 339 0% 331 29.6% 4 50% possibly_damaging(0.731) tolerated(0.07) deleterious(0.586) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain DUSP16 80824 genome.wustl.edu 37 12 12630939 12630939 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030640.2 -1 reviewed p.E276* 1.000 229 0% 176 27.8% 3 33.3% - - - HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 GPR19 2842 genome.wustl.edu 37 12 12814632 12814632 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006143.2 -1 validated p.W251R 1.000 116 0% 119 27.7% 0 - benign(0.034) tolerated(0.1) neutral(0.288) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPRC5A 9052 genome.wustl.edu 37 12 13061998 13061998 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003979.3 +1 reviewed p.R272Q 0.000 302 0% 276 34.1% 71 29.5% benign(0.006) tolerated(0.59) neutral(0.004) HMMPfam_7tm_3 GRIN2B 2904 genome.wustl.edu 37 12 13717095 13717095 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000834.3 -1 reviewed p.G1026D 1.000 51 0% 45 37.8% 0 - possibly_damaging(0.902) tolerated(0.48) neutral(0.367) HMMPfam_NMDAR2_C GRIN2B 2904 genome.wustl.edu 37 12 13764767 13764767 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000834.3 -1 reviewed p.V558I 1.000 314 0% 315 30.8% 0 - possibly_damaging(0.585) deleterious(0.02) deleterious(0.585) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 GRIN2B 2904 genome.wustl.edu 37 12 13764768 13764768 + Silent SNP G G A rs187488896 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000834.3 -1 reviewed p.D557 0.999 313 0% 317 31.9% 0 - - - - HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 GRIN2B 2904 genome.wustl.edu 37 12 14019129 14019129 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000834.3 -1 reviewed p.A5V 0.519 81 0% 93 32.3% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL PLBD1 79887 genome.wustl.edu 37 12 14659998 14659998 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024829.5 -1 validated p.G414D 1.000 211 0% 183 26.2% 23 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Phospholip_B WBP11 51729 genome.wustl.edu 37 12 14952638 14952638 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016312.2 -1 reviewed p.R41* 1.000 51 0% 66 24.2% 15 20% - - - HMMPfam_Wbp11 ERP27 121506 genome.wustl.edu 37 12 15067707 15067707 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152321.2 -1 validated p.R262C 0.178 145 0% 109 34.9% 0 - benign(0.316) deleterious(0.02) deleterious(0.482) NULL ARHGDIB 397 genome.wustl.edu 37 12 15095481 15095481 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001175.4 -1 validated p.S194L 1.000 318 0% 288 25.3% 161 0% benign(0.181) tolerated(0.12) neutral(0.277) HMMPfam_Rho_GDI,superfamily_E set domains ARHGDIB 397 genome.wustl.edu 37 12 15103500 15103500 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001175.4 -1 validated p.K49N 1.000 477 0% 488 17.2% 44 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rho_GDI,superfamily_E set domains MGST1 4257 genome.wustl.edu 37 12 16510566 16510566 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020300.3 +1 reviewed p.A52S 0.000 76 0% 61 24.6% 20 0% benign(0) tolerated(0.97) - HMMPfam_MAPEG LMO3 55885 genome.wustl.edu 37 12 16753789 16753789 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001395.1 -1 validated p.L2 1.000 139 0% 137 22.6% 0 - - - - NULL PIK3C2G 5288 genome.wustl.edu 37 12 18435374 18435374 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004570.4 +1 reviewed p.T120M 0.000 237 0% 249 32.9% 0 - benign(0) tolerated(0.24) neutral(0.037) NULL PIK3C2G 5288 genome.wustl.edu 37 12 18443863 18443863 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004570.4 +1 reviewed p.P279L 0.952 97 0% 44 40.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PI3K_rbd,superfamily_Ubiquitin-like AEBP2 121536 genome.wustl.edu 37 12 19653050 19653050 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114176.1 +1 validated p.F398 1.000 61 0% 64 31.2% 10 60% - - - NULL AEBP2 121536 genome.wustl.edu 37 12 19653071 19653071 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001114176.1 +1 validated p.A405 0.987 68 0% 65 32.3% 13 23% - - - NULL PDE3A 5139 genome.wustl.edu 37 12 20799828 20799828 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000921.3 +1 validated p.D837N 1.000 240 0% 160 31.2% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMSmart_HDc,superfamily_SSF109604 PDE3A 5139 genome.wustl.edu 37 12 20832971 20832971 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000921.3 +1 validated p.K1064N 0.988 189 0% 189 28.6% 8 12.5% benign(0.215) deleterious(0.02) neutral(0.404) superfamily_SSF109604 SLCO1B3 28234 genome.wustl.edu 37 12 21011428 21011428 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019844.2 +1 validated p.P94 0.870 126 0% 108 19.4% 0 - - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1B3 28234 genome.wustl.edu 37 12 21028325 21028325 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019844.2 +1 validated p.S295* 0.000 200 0% 196 31.1% 2 0% - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1B3 28234 genome.wustl.edu 37 12 21036458 21036458 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019844.2 +1 validated p.F535S 0.001 134 0% 107 32.7% 2 0% benign(0.01) tolerated(0.4) neutral(0.017) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter LST-3TM12 338821 genome.wustl.edu 37 12 21168707 21168707 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001009562.4 +1 validated p.F26 1.000 94 0% 98 26.5% 0 - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO1B1 10599 genome.wustl.edu 37 12 21331623 21331623 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006446.4 +1 reviewed p.F199V 1.000 439 0% 375 29.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO1B1 10599 genome.wustl.edu 37 12 21355617 21355617 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006446.4 +1 reviewed p.D443A 1.000 139 0% 98 36.7% 0 - probably_damaging(0.996) tolerated(0.05) deleterious(0.807) HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO1B1 10599 genome.wustl.edu 37 12 21392073 21392073 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006446.4 +1 reviewed p.N676H 0.001 240 0% 195 29.7% 0 - possibly_damaging(0.46) tolerated(0.1) neutral(0.438) NULL SLCO1A2 6579 genome.wustl.edu 37 12 21448564 21448564 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021094.3 -1 reviewed p.S413Y 0.057 212 0% 125 29.6% 0 - possibly_damaging(0.44) tolerated(0.41) neutral(0.158) HMMPfam_OATP,superfamily_MFS general substrate transporter IAPP 3375 genome.wustl.edu 37 12 21526313 21526313 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000415.2 +1 reviewed p.L10I 0.004 179 0% 137 30.7% 0 - possibly_damaging(0.941) deleterious(0.04) deleterious(0.736) NULL PYROXD1 79912 genome.wustl.edu 37 12 21620539 21620539 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024854.3 +1 validated p.F414Y 1.000 241 0% 205 27.3% 7 14.2% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL RECQL 5965 genome.wustl.edu 37 12 21624397 21624397 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002907.3 -1 reviewed p.K544 0.993 206 0% 148 28.4% 10 0% - - - NULL GYS2 2998 genome.wustl.edu 37 12 21757463 21757463 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021957.3 -1 reviewed p.E22* 0.049 176 0% 148 24.3% 0 - - - - NULL ABCC9 10060 genome.wustl.edu 37 12 22035735 22035735 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005691.2 -1 reviewed p.L662 0.007 424 0% 268 13.1% 0 - - - - NULL CMAS 55907 genome.wustl.edu 37 12 22211515 22211515 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018686.3 +1 reviewed p.E192K 0.994 148 0% 97 30.9% 40 32.5% benign(0) tolerated(0.84) neutral(0.001) HMMPfam_CTP_transf_3,superfamily_Nucleotide-diphospho-sugar transferases KIAA0528 9847 genome.wustl.edu 37 12 22631294 22631294 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014802.1 -1 predicted p.N619H 1.000 114 0% 85 32.9% 5 40% benign(0.062) tolerated(0.23) neutral(0.045) NULL CASC1 55259 genome.wustl.edu 37 12 25264832 25264832 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018272.3 -1 validated p.K551N 0.000 205 0% 158 24.1% 2 0% benign(0.029) tolerated(0.31) neutral(0.029) NULL CASC1 55259 genome.wustl.edu 37 12 25297532 25297532 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018272.3 -1 validated p.R257* 0.010 224 0% 230 35.2% 3 0% - - - NULL KRAS 3845 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T rs112445441 byCluster TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033360.2 -1 reviewed p.G13D 1.000 65 0% 40 22.5% 7 42.8% benign(0.184) deleterious(0) neutral(0.462) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ITPR2 3709 genome.wustl.edu 37 12 26580881 26580881 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002223.2 -1 validated p.L2304I 1.000 143 0% 118 11% 1 0% benign(0.183) tolerated(0.88) neutral(0.017) NULL ITPR2 3709 genome.wustl.edu 37 12 26640041 26640041 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002223.2 -1 validated p.D1838 0.023 212 0% 156 32.7% 3 0% - - - NULL ITPR2 3709 genome.wustl.edu 37 12 26647176 26647176 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002223.2 -1 validated p.D1760 0.986 231 0% 161 24.8% 0 - - - - NULL ITPR2 3709 genome.wustl.edu 37 12 26755429 26755429 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002223.2 -1 validated e28-1 1.000 295 0% 279 34.8% 0 - - - - - ITPR2 3709 genome.wustl.edu 37 12 26868343 26868343 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002223.2 -1 validated p.E248D 1.000 248 0% 191 28.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 ITPR2 3709 genome.wustl.edu 37 12 26869082 26869082 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002223.2 -1 validated p.K207Q 1.000 108 0% 92 32.6% 1 0% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 ITPR2 3709 genome.wustl.edu 37 12 26875466 26875466 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002223.2 -1 validated p.K130T 1.000 247 0% 214 30.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_MIR domain (Pfam 02815),HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 MED21 9412 genome.wustl.edu 37 12 27180324 27180324 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004264.3 +1 provisional p.D68Y 1.000 260 0% 217 32.3% 12 16.6% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL STK38L 23012 genome.wustl.edu 37 12 27468018 27468018 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015000.3 +1 validated p.R248I 1.000 119 0% 126 35.7% 17 70.5% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ARNTL2 56938 genome.wustl.edu 37 12 27533238 27533238 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020183.3 +1 provisional p.E129* 1.000 363 0% 275 28% 6 16.6% - - - HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain ENSG00000245311 0 genome.wustl.edu 37 12 27542991 27542991 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000500498 -1 known NULL 0.002 320 0% 234 28.2% 0 - - - - - ARNTL2 56938 genome.wustl.edu 37 12 27573351 27573351 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020183.3 +1 provisional p.F599 0.367 151 0% 111 33.3% 16 50% benign(0.003) - - NULL PPFIBP1 8496 genome.wustl.edu 37 12 27787849 27787849 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003622.2 +1 reviewed p.K24T 1.000 202 0% 205 27.3% 2 50% probably_damaging(0.996) tolerated(0.17) deleterious(0.520) NULL KLHDC5 57542 genome.wustl.edu 37 12 27933944 27933944 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020782.1 +1 validated p.E227 0.646 26 0% 29 34.5% 12 8.3% - - - superfamily_Galactose oxidase central domain FAR2 55711 genome.wustl.edu 37 12 29446359 29446359 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018099.3 +1 provisional p.N106H 0.521 246 0% 234 31.2% 0 - benign(0.187) deleterious(0.04) neutral(0.366) HMMPfam_NAD_binding_4,superfamily_NAD(P)-bd FAR2 55711 genome.wustl.edu 37 12 29450077 29450077 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018099.3 +1 provisional p.I163 0.730 259 0% 275 28.4% 3 0% - - - HMMPfam_NAD_binding_4,superfamily_NAD(P)-bd FAR2 55711 genome.wustl.edu 37 12 29486623 29486623 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018099.3 +1 provisional p.L482F 1.000 342 0% 292 30.8% 4 50% benign(0.002) tolerated(0.53) neutral(0.007) NULL ERGIC2 51290 genome.wustl.edu 37 12 29509370 29509370 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016570.2 -1 validated p.H173N 0.990 139 0% 114 34.2% 58 43.1% possibly_damaging(0.464) deleterious(0.01) deleterious(0.558) HMMPfam_DUF1692 ERGIC2 51290 genome.wustl.edu 37 12 29514615 29514615 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016570.2 -1 validated p.V113I 0.966 216 0% 155 23.9% 39 33.3% benign(0) tolerated(0.92) - NULL ERGIC2 51290 genome.wustl.edu 37 12 29521212 29521212 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016570.2 -1 validated p.R75I 1.000 134 0% 73 23.3% 33 33.3% possibly_damaging(0.776) deleterious(0.01) deleterious(0.695) NULL OVCH1 341350 genome.wustl.edu 37 12 29592269 29592269 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_183378.2 -1 validated p.N1086H 0.001 75 0% 56 12.5% 0 - benign(0.176) - - NULL OVCH1 341350 genome.wustl.edu 37 12 29642672 29642672 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_183378.2 -1 validated p.E195K 0.003 27 0% 22 22.7% 0 - benign(0.02) tolerated(0.86) neutral(0.002) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases IPO8 10526 genome.wustl.edu 37 12 30784837 30784837 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006390.2 -1 reviewed p.T1003M 0.693 205 0% 157 35.7% 23 39.1% possibly_damaging(0.732) deleterious(0.01) deleterious(0.673) NULL CAPRIN2 65981 genome.wustl.edu 37 12 30869574 30869574 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002259.1 -1 validated p.E778* 1.000 343 0% 279 33.7% 3 0% - - - NULL CAPRIN2 65981 genome.wustl.edu 37 12 30884440 30884440 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002259.1 -1 validated p.K299N 0.997 159 0% 132 13.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CAPRIN2 65981 genome.wustl.edu 37 12 30888067 30888067 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002259.1 -1 validated p.R215Q 0.887 254 0.4% 219 29.2% 0 - possibly_damaging(0.781) deleterious(0.04) deleterious(0.641) NULL OVOS2 144203 genome.wustl.edu 37 12 31302319 31302319 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343151.1 -1 model p.Q325R 0.000 51 0% 36 19.4% 0 - - - - NULL DENND5B 160518 genome.wustl.edu 37 12 31600574 31600574 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144973.3 -1 validated p.R587W 1.000 73 0% 82 32.9% 1 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL METTL20 254013 genome.wustl.edu 37 12 31820696 31820696 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135863.1 +1 validated p.G187 0.993 99 0% 80 28.7% 3 33.3% - - - HMMPfam_Methyltransf_16,superfamily_SSF53335 C12orf35 55196 genome.wustl.edu 37 12 32136903 32136903 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018169.3 +1 validated p.S1005I 0.000 72 0% 85 27.1% 14 35.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL C12orf35 55196 genome.wustl.edu 37 12 32138842 32138842 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018169.3 +1 validated p.E1651 0.000 96 0% 86 26.7% 25 36% - - - NULL BICD1 636 genome.wustl.edu 37 12 32487524 32487524 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001714.2 +1 reviewed p.T725 0.985 287 0% 242 31.4% 16 50% - - - HMMPfam_BicD FGD4 121512 genome.wustl.edu 37 12 32760902 32760902 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139241.2 +1 reviewed p.I335 0.991 246 0% 208 34.1% 2 50% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) DNM1L 10059 genome.wustl.edu 37 12 32863892 32863892 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012062.3 +1 reviewed p.K133N 1.000 134 0% 135 28.1% 17 41.1% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Dynamin_N,HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases DNM1L 10059 genome.wustl.edu 37 12 32891219 32891219 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012062.3 +1 reviewed p.E566* 1.000 97 0% 74 36.5% 6 0% - - - NULL SYT10 341359 genome.wustl.edu 37 12 33532802 33532802 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198992.2 -1 provisional p.R489* 1.000 364 0% 356 24.7% 0 - - - - HMMSmart_C2,superfamily_C2_CaLB SYT10 341359 genome.wustl.edu 37 12 33579171 33579171 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198992.2 -1 provisional p.S137 1.000 266 0% 294 25.9% 0 - - - - NULL CPNE8 144402 genome.wustl.edu 37 12 39047692 39047692 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153634.2 -1 reviewed p.Q563K 1.000 85 0% 53 35.8% 3 0% benign(0.144) tolerated(0.21) neutral(0.056) NULL CPNE8 144402 genome.wustl.edu 37 12 39071290 39071290 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153634.2 -1 reviewed p.I446 1.000 67 0% 53 30.2% 1 0% - - - HMMSmart_VWA,HMMPfam_Copine,superfamily_SSF53300 CPNE8 144402 genome.wustl.edu 37 12 39087545 39087545 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153634.2 -1 reviewed p.D353Y 1.000 291 0% 231 32.9% 0 - probably_damaging(0.997) tolerated(0.12) deleterious(0.727) HMMSmart_VWA,HMMPfam_Copine,superfamily_SSF53300 KIF21A 55605 genome.wustl.edu 37 12 39726177 39726177 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017641.3 -1 validated p.L951I 0.998 527 0% 388 32.7% 6 0% benign(0.009) deleterious(0.03) neutral(0.365) superfamily_WD40 repeat-like KIF21A 55605 genome.wustl.edu 37 12 39750650 39750650 + Nonsense_Mutation SNP C C A rs143300316 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017641.3 -1 validated p.E485* 1.000 102 0% 92 35.9% 3 0% - - - NULL KIF21A 55605 genome.wustl.edu 37 12 39760190 39760190 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017641.3 -1 validated p.E289K 1.000 194 0% 131 24.4% 1 100% benign(0.07) tolerated(0.36) neutral(0.025) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCD2 225 genome.wustl.edu 37 12 40013124 40013124 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005164.3 -1 reviewed p.K98 1.000 160 0% 131 29.8% 0 - - - - HMMPfam_ABC_membrane_2 C12orf40 283461 genome.wustl.edu 37 12 40078688 40078688 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031748.2 +1 validated p.E436K 1.000 159 0% 139 19.4% 0 - probably_damaging(0.959) - - NULL C12orf40 283461 genome.wustl.edu 37 12 40115033 40115033 + Missense_Mutation SNP G G A rs138195010 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031748.2 +1 validated p.E647K 0.917 119 0% 103 35% 0 - probably_damaging(0.991) - - NULL LRRK2 120892 genome.wustl.edu 37 12 40692091 40692091 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198578.3 +1 reviewed p.T1048R 0.943 106 0% 99 27.3% 0 - probably_damaging(0.955) tolerated(0.07) deleterious(0.718) HMMPfam_LRR_1,superfamily_SSF52058 LRRK2 120892 genome.wustl.edu 37 12 40699702 40699702 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198578.3 +1 reviewed p.P1298H 1.000 109 0% 75 16% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_SSF52058 LRRK2 120892 genome.wustl.edu 37 12 40722206 40722206 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198578.3 +1 reviewed p.E1901K 1.000 234 0% 189 18.5% 1 0% possibly_damaging(0.772) tolerated(0.12) deleterious(0.547) superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase LRRK2 120892 genome.wustl.edu 37 12 40745392 40745392 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198578.3 +1 reviewed p.L2145 0.005 66 0% 40 42.5% 1 0% - - - superfamily_WD40_like LRRK2 120892 genome.wustl.edu 37 12 40758660 40758660 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198578.3 +1 reviewed p.E2400* 0.000 82 0% 65 15.4% 0 - - - - superfamily_WD40_like CNTN1 1272 genome.wustl.edu 37 12 41316152 41316152 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001843.2 +1 reviewed p.D108Y 1.000 147 0% 147 30.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PDZRN4 29951 genome.wustl.edu 37 12 41903667 41903667 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013377.3 +1 validated p.I127M 0.797 138 0% 153 27.5% 0 - benign(0.004) tolerated(0.5) neutral(0.010) superfamily_PDZ PDZRN4 29951 genome.wustl.edu 37 12 41966951 41966951 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013377.3 +1 validated p.S532 0.000 479 0% 384 32.6% 0 - - - - NULL PDZRN4 29951 genome.wustl.edu 37 12 41967365 41967365 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013377.3 +1 validated p.D670 0.964 179 0% 176 27.8% 0 - - - - NULL GXYLT1 283464 genome.wustl.edu 37 12 42503464 42503464 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173601.1 -1 validated p.F172L 1.000 94 0% 58 34.5% 6 50% possibly_damaging(0.792) tolerated(0.1) deleterious(0.583) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases PPHLN1 51535 genome.wustl.edu 37 12 42787460 42787460 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016488.6 +1 reviewed p.E246G 0.954 146 0% 127 31.5% 55 40% benign(0.117) deleterious(0) neutral(0.454) NULL PPHLN1 51535 genome.wustl.edu 37 12 42836514 42836514 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016488.6 +1 reviewed p.E366K 0.443 315 0% 284 30.6% 6 83.3% benign(0) deleterious(0) neutral(0.445) NULL ADAMTS20 80070 genome.wustl.edu 37 12 43837677 43837677 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025003.3 -1 validated p.V736A 0.018 220 0% 165 26.7% 0 - possibly_damaging(0.602) tolerated(0.72) neutral(0.210) HMMPfam_ADAM_spacer1 TMEM117 84216 genome.wustl.edu 37 12 44537360 44537360 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032256.1 +1 provisional p.R148Q 1.000 119 0% 90 28.9% 3 33.3% probably_damaging(1) tolerated(0.28) deleterious(0.531) NULL TMEM117 84216 genome.wustl.edu 37 12 44782223 44782223 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032256.1 +1 provisional p.S438Y 1.000 301 0% 242 31% 3 66.6% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL NELL2 4753 genome.wustl.edu 37 12 45059323 45059323 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145107.1 -1 reviewed p.S513Y 1.000 246 0% 239 14.6% 8 12.5% possibly_damaging(0.557) deleterious(0) deleterious(0.635) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,superfamily_ConA_like_lec_gl,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 DBX2 440097 genome.wustl.edu 37 12 45410370 45410370 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004329.2 -1 validated p.K240R 1.000 307 0% 303 30.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 DBX2 440097 genome.wustl.edu 37 12 45417553 45417553 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004329.2 -1 validated p.Q208H 1.000 389 0% 374 25.4% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ARID2 196528 genome.wustl.edu 37 12 46242676 46242676 + Nonsense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152641.2 +1 validated p.Y546* 1.000 122 0% 133 32.3% 2 0% - - - "superfamily_""Winged helix"" DNA-binding domain" ARID2 196528 genome.wustl.edu 37 12 46244875 46244875 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152641.2 +1 validated p.S990L 0.999 281 0% 229 32.8% 5 0% possibly_damaging(0.713) tolerated(0.21) neutral(0.301) NULL SCAF11 9169 genome.wustl.edu 37 12 46321609 46321609 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004719.2 -1 validated p.Q625H 0.000 255 0% 252 29.4% 11 27.2% benign(0) tolerated(0.86) neutral(0.001) NULL SLC38A2 54407 genome.wustl.edu 37 12 46757607 46757607 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018976.4 -1 validated p.R319H 1.000 131 0% 99 31.3% 83 36.1% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Aa_trans LOC100288986 100288986 genome.wustl.edu 37 12 47629473 47629473 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343197.1 -1 model p.E7K 0.876 47 0% 73 23.3% 6 0% - - - NULL RPAP3 79657 genome.wustl.edu 37 12 48091380 48091380 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024604.2 -1 reviewed p.K139N 1.000 205 0% 200 35% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like RAPGEF3 10411 genome.wustl.edu 37 12 48142692 48142692 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098531.2 -1 validated p.R355Q 1.000 135 0% 97 32% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00100,superfamily_Ras GEF,superfamily_cAMP-binding domain-like SENP1 29843 genome.wustl.edu 37 12 48477430 48477430 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014554.2 -1 validated p.R166* 1.000 84 0% 70 25.7% 1 100% - - - NULL OR10AD1 121275 genome.wustl.edu 37 12 48596474 48596474 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004134.1 -1 provisional p.F201S 0.873 123 0% 157 24.8% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KANSL2 54934 genome.wustl.edu 37 12 49054386 49054386 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017822.3 -1 validated p.T330 0.995 61 0% 47 36.2% 14 21.4% - - - NULL SNORA2B 677794 genome.wustl.edu 37 12 49061316 49061316 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_002951.1 -1 provisional NULL 0.981 206 0% 166 26.5% 0 - - - - - CCNT1 904 genome.wustl.edu 37 12 49099658 49099658 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001240.2 -1 reviewed p.F89L 0.999 163 0% 150 27.3% 1 100% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMSmart_CYCLIN,HMMPfam_Cyclin_N,superfamily_Cyclin_like CCNT1 904 genome.wustl.edu 37 12 49110359 49110359 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001240.2 -1 reviewed p.E34* 1.000 218 0% 219 35.2% 0 - - - - HMMPfam_Cyclin_N,superfamily_Cyclin_like CCDC65 85478 genome.wustl.edu 37 12 49315113 49315113 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033124.4 +1 validated p.E448K 0.998 152 0.7% 145 31.7% 4 25% benign(0.114) deleterious(0.04) neutral(0.358) NULL MLL2 8085 genome.wustl.edu 37 12 49432153 49432153 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003482.3 -1 validated p.D2996N 1.000 47 0% 30 16.7% 0 - unknown(0) - - NULL LMBR1L 55716 genome.wustl.edu 37 12 49496925 49496925 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018113.2 -1 validated p.L194I 1.000 49 0% 59 30.5% 15 40% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_LMBR1 MCRS1 10445 genome.wustl.edu 37 12 49959429 49959429 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012300.1 -1 validated p.F70 0.991 300 0% 241 27.8% 41 34.1% - - - NULL FAM186B 84070 genome.wustl.edu 37 12 49994227 49994227 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032130.2 -1 validated p.S399L 0.001 195 0% 219 30.1% 2 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL FMNL3 91010 genome.wustl.edu 37 12 50043678 50043678 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175736.4 -1 validated p.F677 0.998 77 0% 53 24.5% 10 20% - - - HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd NCKAP5L 57701 genome.wustl.edu 37 12 50189215 50189215 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037806.3 -1 validated p.S810G 0.940 44 0% 34 47.1% 5 20% benign(0.135) tolerated(0.16) neutral(0.071) NULL SMARCD1 6602 genome.wustl.edu 37 12 50482348 50482348 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003076.4 +1 reviewed p.F233L 1.000 138 0% 123 25.2% 24 45.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LARP4 113251 genome.wustl.edu 37 12 50856394 50856394 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199188.2 +1 validated p.R461Q 1.000 173 0% 127 29.9% 5 20% possibly_damaging(0.942) tolerated(0.23) neutral(0.428) NULL DIP2B 57609 genome.wustl.edu 37 12 51112508 51112508 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173602.2 +1 validated p.S956 1.000 63 0% 47 21.3% 5 40% - - - NULL SLC11A2 4891 genome.wustl.edu 37 12 51393146 51393146 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000617.2 -1 reviewed p.L197F 1.000 209 0% 161 32.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nramp CSRNP2 81566 genome.wustl.edu 37 12 51461744 51461744 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030809.1 -1 provisional p.K140N 1.000 127 0% 98 32.7% 16 43.7% possibly_damaging(0.45) deleterious(0.04) deleterious(0.496) NULL SMAGP 57228 genome.wustl.edu 37 12 51640590 51640590 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031628.1 -1 validated p.L20 0.021 14 0% 20 30% 25 24% - - - NULL SLC4A8 9498 genome.wustl.edu 37 12 51856106 51856106 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039960.1 +1 validated p.V372I 1.000 290 0% 261 34.1% 0 - probably_damaging(0.999) tolerated(0.33) deleterious(0.514) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein SLC4A8 9498 genome.wustl.edu 37 12 51864289 51864289 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039960.1 +1 validated p.K546N 1.000 294 0% 251 29.1% 3 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_HCO3_cotransp SLC4A8 9498 genome.wustl.edu 37 12 51890869 51890869 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039960.1 +1 validated p.K1014N 1.000 146 0% 172 24.4% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL SCN8A 6334 genome.wustl.edu 37 12 52100461 52100461 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014191.2 +1 reviewed p.D533N 1.000 135 0% 112 31.2% 0 - possibly_damaging(0.825) tolerated(0.6) neutral(0.317) NULL SCN8A 6334 genome.wustl.edu 37 12 52200655 52200655 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014191.2 +1 reviewed p.F1795 0.978 169 0% 135 28.1% 0 - - - - NULL ANKRD33 341405 genome.wustl.edu 37 12 52284397 52284397 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182608.3 +1 validated p.R223W 0.074 24 0% 20 30% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00248,superfamily_Ankyrin repeat ACVRL1 94 genome.wustl.edu 37 12 52309863 52309863 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000020.2 +1 reviewed p.I364 0.976 69 0% 64 35.9% 25 0% - - - superfamily_Kinase_like,HMMPfam_Pkinase KRT84 3890 genome.wustl.edu 37 12 52776273 52776273 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033045.3 -1 reviewed p.N287S 0.991 97 0% 69 26.1% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Filament KRT84 3890 genome.wustl.edu 37 12 52779170 52779170 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033045.3 -1 reviewed p.A67V 0.001 142 0% 134 28.4% 0 - benign(0) tolerated(0.56) neutral(0.006) NULL KRT6B 3854 genome.wustl.edu 37 12 52842644 52842644 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005555.3 -1 reviewed p.I395 0.754 220 0% 196 35.7% 22 0% - - - HMMPfam_Filament KRT71 112802 genome.wustl.edu 37 12 52940198 52940198 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033448.2 -1 reviewed p.G399 0.017 105 0% 94 29.8% 0 - - - - HMMPfam_Filament KRT71 112802 genome.wustl.edu 37 12 52946439 52946439 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033448.2 -1 reviewed p.F141 0.988 131 0% 136 32.4% 0 - - - - HMMPfam_Filament KRT71 112802 genome.wustl.edu 37 12 52946836 52946836 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033448.2 -1 reviewed p.S9L 0.021 108 0% 97 15.5% 0 - possibly_damaging(0.832) deleterious(0.02) deleterious(0.700) NULL KRT74 121391 genome.wustl.edu 37 12 52967252 52967252 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175053.3 -1 reviewed p.L104 0.007 51 0% 47 34% 0 - - - - NULL KRT72 140807 genome.wustl.edu 37 12 52994873 52994873 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080747.2 -1 reviewed p.R122C 1.000 65 0% 54 31.5% 0 - benign(0.255) deleterious(0.03) neutral(0.391) NULL KRT73 319101 genome.wustl.edu 37 12 53004586 53004586 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175068.2 -1 reviewed p.E382K 1.000 96 0% 74 33.8% 0 - possibly_damaging(0.495) deleterious(0.01) deleterious(0.571) HMMPfam_Filament ENSG00000248214 0 genome.wustl.edu 37 12 53007426 53007426 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000507911 +1 known NULL 0.000 73 0% 64 40.6% 0 - - - - - KRT3 3850 genome.wustl.edu 37 12 53187991 53187991 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_057088.2 -1 reviewed p.Y257C 0.057 173 0% 150 33.3% 0 - benign(0.004) deleterious(0.01) neutral(0.406) HMMPfam_Filament KRT78 196374 genome.wustl.edu 37 12 53237961 53237961 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173352.2 -1 reviewed p.R321 0.766 527 0% 695 27.3% 1 0% - - - HMMPfam_Filament CSAD 51380 genome.wustl.edu 37 12 53554040 53554040 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015989.4 -1 validated p.D371N 1.000 84 0% 66 33.3% 3 0% benign(0) deleterious(0.05) neutral(0.345) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases MFSD5 84975 genome.wustl.edu 37 12 53646939 53646939 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032889.4 +1 validated p.S107Y 1.000 348 0% 460 35% 46 15.2% possibly_damaging(0.911) tolerated(0.21) neutral(0.407) HMMPfam_DUF791,superfamily_MFS general substrate transporter ESPL1 9700 genome.wustl.edu 37 12 53686161 53686161 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012291.4 +1 validated p.R1966* 1.000 137 0% 139 30.2% 6 0% - - - HMMPfam_Peptidase_C50 TARBP2 6895 genome.wustl.edu 37 12 53898557 53898557 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_134323.1 +1 reviewed p.E191* 1.000 110 0% 106 37.7% 49 10.2% - - - HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like TARBP2 6895 genome.wustl.edu 37 12 53899581 53899581 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_134323.1 +1 reviewed p.V297A 1.000 129 0% 122 35.2% 46 17.3% benign(0.003) deleterious(0.02) neutral(0.383) HMMSmart_SM00358,superfamily_dsRNA-binding domain-like ATF7 11016 genome.wustl.edu 37 12 53918426 53918426 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130059.1 -1 validated p.C360 1.000 60 0% 60 28.3% 10 0% - - - HMMSmart_SM00338,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1 CALCOCO1 57658 genome.wustl.edu 37 12 54113569 54113569 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020898.2 -1 validated p.L268R 0.991 421 0% 384 34.6% 14 28.5% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_CALCOCO1 HOXC13 3229 genome.wustl.edu 37 12 54338822 54338822 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017410.2 +1 reviewed p.R259C 0.999 146 0% 173 30.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Homeodomain_like HOXC10 3226 genome.wustl.edu 37 12 54379402 54379402 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017409.3 +1 reviewed p.A120V 1.000 22 0% 35 25.7% 0 - benign(0.011) tolerated(0.18) neutral(0.057) NULL HOXC6 3223 genome.wustl.edu 37 12 54422488 54422488 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004503.3 +1 reviewed p.V61 1.000 193 0% 174 30.5% 0 - - - - NULL CBX5 23468 genome.wustl.edu 37 12 54646006 54646006 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127321.1 -1 reviewed p.H48R 1.000 200 0% 141 34% 14 28.5% possibly_damaging(0.84) deleterious(0) deleterious(0.766) HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,superfamily_Chromo domain-like MIR148B 442892 genome.wustl.edu 37 12 54731087 54731087 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000362252 +1 known NULL 1.000 285 0% 210 26.2% 0 - - - - - ITGA5 3678 genome.wustl.edu 37 12 54795409 54795409 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002205.2 -1 reviewed p.R783W 0.957 187 0% 174 30.5% 43 0% possibly_damaging(0.827) deleterious(0.01) deleterious(0.720) HMMPfam_Integrin_alpha2,superfamily_SSF69179 NCKAP1L 3071 genome.wustl.edu 37 12 54912712 54912712 + Nonsense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005337.4 +1 reviewed p.K479* 0.962 180 0% 240 32.1% 3 0% - - - HMMPfam_Nckap1 NCKAP1L 3071 genome.wustl.edu 37 12 54932703 54932703 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005337.4 +1 reviewed p.E1073D 0.999 117 0% 122 26.2% 15 0% benign(0.393) tolerated(0.1) neutral(0.412) HMMPfam_Nckap1 PDE1B 5153 genome.wustl.edu 37 12 54967432 54967432 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000924.3 +1 validated p.D335N 1.000 283 0% 326 26.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 PDE1B 5153 genome.wustl.edu 37 12 54968959 54968959 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000924.3 +1 validated p.H381R 1.000 299 0% 300 25% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 NEUROD4 58158 genome.wustl.edu 37 12 55420418 55420418 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021191.2 +1 validated p.E65D 0.979 211 0% 180 27.8% 0 - benign(0) tolerated(0.71) neutral(0.002) NULL OR9K2 441639 genome.wustl.edu 37 12 55523703 55523703 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005243.1 +1 provisional p.L51I 0.130 331 0% 291 15.5% 0 - possibly_damaging(0.604) tolerated(0.7) neutral(0.211) superfamily_Family A G protein-coupled receptor-like OR6C6 283365 genome.wustl.edu 37 12 55688128 55688128 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005493.1 -1 provisional p.E297* 0.568 128 0% 107 29.9% 0 - - - - superfamily_SSF81321 OR6C6 283365 genome.wustl.edu 37 12 55688227 55688227 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005493.1 -1 provisional p.E264K 0.009 159 0% 158 31% 0 - probably_damaging(0.97) tolerated(0.11) deleterious(0.684) HMMPfam_7tm_1,superfamily_SSF81321 OR6C6 283365 genome.wustl.edu 37 12 55688992 55688992 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005493.1 -1 provisional p.E9* 0.000 148 0% 142 32.4% 0 - - - - superfamily_SSF81321 OR6C3 254786 genome.wustl.edu 37 12 55726314 55726314 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_054104.1 +1 provisional p.S277Y 0.070 253 0% 164 34.1% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_7tm_1,superfamily_SSF81321 OR6C75 390323 genome.wustl.edu 37 12 55759543 55759543 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005497.1 +1 provisional p.T217A 0.000 201 0% 181 29.3% 0 - benign(0.006) tolerated(0.32) neutral(0.024) HMMPfam_7tm_1,superfamily_SSF81321 OR6C65 403282 genome.wustl.edu 37 12 55794848 55794848 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005518.1 +1 provisional p.S179Y 0.000 241 0% 279 29% 0 - possibly_damaging(0.807) tolerated(1) neutral(0.304) HMMPfam_7tm_1,superfamily_SSF81321 OR6C76 390326 genome.wustl.edu 37 12 55820448 55820448 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005183.1 +1 provisional p.I137 0.001 314 0% 244 28.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6C68 403284 genome.wustl.edu 37 12 55886355 55886355 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005519.1 +1 provisional p.S70Y 0.020 351 0% 367 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ITGA7 3679 genome.wustl.edu 37 12 56078954 56078954 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144996.1 -1 reviewed p.R1105M 1.000 97 0% 79 31.6% 7 0% possibly_damaging(0.78) deleterious(0.02) deleterious(0.674) NULL SARNP 84324 genome.wustl.edu 37 12 56194405 56194405 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033082.3 -1 reviewed p.E64D 1.000 144 0% 131 34.4% 127 33% unknown(0) tolerated(0.17) - NULL DNAJC14 85406 genome.wustl.edu 37 12 56221763 56221763 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032364.5 -1 validated p.R227Q 0.959 126 0% 158 32.9% 16 31.2% possibly_damaging(0.943) deleterious(0) deleterious(0.832) NULL DGKA 1606 genome.wustl.edu 37 12 56347534 56347534 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001345.4 +1 reviewed p.F730L 1.000 211 0% 136 33.1% 30 33.3% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL SUOX 6821 genome.wustl.edu 37 12 56397578 56397578 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000456.2 +1 reviewed p.P135 0.994 138 0% 99 13.1% 16 0% - - - HMMPfam_Cyt-b5,superfamily_Cyt_B5 RNF41 10193 genome.wustl.edu 37 12 56601530 56601530 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005785.2 -1 reviewed p.R168* 1.000 236 0% 276 30.4% 30 20% - - - HMMPfam_USP8_interact SLC39A5 283375 genome.wustl.edu 37 12 56628653 56628653 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135195.1 +1 validated p.A173T 0.997 105 1% 131 30.5% 6 0% benign(0.108) tolerated(0.68) neutral(0.011) NULL ANKRD52 283373 genome.wustl.edu 37 12 56641521 56641521 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173595.3 -1 validated p.I672 0.349 35 0% 24 29.2% 6 33.3% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD52 283373 genome.wustl.edu 37 12 56650865 56650865 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173595.3 -1 validated p.A65 1.000 27 0% 18 33.3% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK COQ10A 93058 genome.wustl.edu 37 12 56662915 56662915 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144576.3 +1 validated p.K118 1.000 107 0% 145 22.8% 6 0% - - - HMMPfam_Polyketide_cyc STAT2 6773 genome.wustl.edu 37 12 56749495 56749495 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005419.3 -1 reviewed p.Q126H 0.144 434 0% 422 28.4% 19 21% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) superfamily_Transcription factor STAT-4 N-domain TIMELESS 8914 genome.wustl.edu 37 12 56814409 56814409 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003920.3 -1 validated p.E1058K 0.909 185 0% 238 33.6% 21 28.5% benign(0) tolerated(0.94) - HMMPfam_TIMELESS_C TIMELESS 8914 genome.wustl.edu 37 12 56824744 56824744 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003920.3 -1 validated p.R277Q 1.000 154 0% 159 39% 8 37.5% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_TIMELESS MIP 4284 genome.wustl.edu 37 12 56845189 56845189 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012064.3 -1 reviewed p.L223I 1.000 199 0% 206 27.2% 0 - probably_damaging(0.972) deleterious(0) deleterious(0.859) superfamily_MIP MIP 4284 genome.wustl.edu 37 12 56848301 56848301 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012064.3 -1 reviewed p.R33C 1.000 83 0% 79 30.4% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_MIP,superfamily_MIP GLS2 27165 genome.wustl.edu 37 12 56872890 56872890 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000486896 -1 known p.S149* 1.000 180 0.6% 225 35.6% 1 100% - - - NULL BAZ2A 11176 genome.wustl.edu 37 12 56997404 56997404 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013449.3 -1 validated p.R1042H 1.000 211 0% 203 24.6% 11 45.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL HSD17B6 8630 genome.wustl.edu 37 12 57178728 57178728 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003725.2 +1 reviewed p.R222* 0.000 319 0.3% 222 11.3% 1 0% - - - superfamily_NAD(P)-bd HSD17B6 8630 genome.wustl.edu 37 12 57181005 57181005 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003725.2 +1 reviewed p.R278Q 0.800 144 0% 137 30.7% 3 0% possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) superfamily_NAD(P)-bd STAT6 6778 genome.wustl.edu 37 12 57501063 57501063 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003153.4 -1 reviewed p.A97D 1.000 162 0% 115 31.3% 13 46.1% benign(0.04) deleterious(0.04) neutral(0.351) HMMPfam_STAT_int,superfamily_Transcription factor STAT-4 N-domain LRP1 4035 genome.wustl.edu 37 12 57549993 57549993 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002332.2 +1 reviewed p.T448 0.181 112 0% 123 30.1% 0 - - - - superfamily_YWTD domain LRP1 4035 genome.wustl.edu 37 12 57599359 57599359 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002332.2 +1 reviewed p.R3830H 1.000 36 0% 19 42.1% 36 13.8% benign(0.011) tolerated(0.41) neutral(0.015) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin MBD6 114785 genome.wustl.edu 37 12 57920420 57920420 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052897.3 +1 validated p.G498* 1.000 54 0% 55 43.6% 13 23% - - - NULL MBD6 114785 genome.wustl.edu 37 12 57922249 57922249 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000300263 +1 known p.E176* 1.000 45 0% 52 38.5% 12 16.6% - - - NULL KIF5A 3798 genome.wustl.edu 37 12 57963880 57963880 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004984.2 +1 reviewed p.A410T 0.964 26 0% 26 26.9% 0 - benign(0) tolerated(0.74) neutral(0.002) NULL KIF5A 3798 genome.wustl.edu 37 12 57972039 57972039 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004984.2 +1 reviewed p.E818K 1.000 752 0% 603 25.9% 0 - benign(0.103) tolerated(0.22) neutral(0.050) superfamily_Prefoldin DTX3 196403 genome.wustl.edu 37 12 58002327 58002327 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000413885 +1 known p.R262W 0.865 99 0% 100 36% 11 9% benign(0.339) tolerated(0.1) neutral(0.393) NULL ARHGEF25 115557 genome.wustl.edu 37 12 58007489 58007489 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001111270.1 +1 validated p.S205 0.996 128 0.8% 69 31.9% 5 0% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) SLC26A10 65012 genome.wustl.edu 37 12 58018721 58018721 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133489.2 +1 validated p.R434C 0.298 198 0% 176 22.7% 1 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa CYP27B1 1594 genome.wustl.edu 37 12 58158182 58158182 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000785.3 -1 reviewed p.A372V 1.000 238 0% 202 30.2% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 CYP27B1 1594 genome.wustl.edu 37 12 58158202 58158202 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000785.3 -1 reviewed p.S365 1.000 225 0% 185 31.9% 6 0% - - - HMMPfam_p450,superfamily_Cytochrome P450 METTL1 4234 genome.wustl.edu 37 12 58163455 58163455 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005371.5 -1 reviewed p.K156E 1.000 139 0% 90 30% 45 24.4% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Methyltransf_4,superfamily_SSF53335 AVIL 10677 genome.wustl.edu 37 12 58201500 58201500 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006576.3 -1 reviewed p.I402T 1.000 123 0% 125 32% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMSmart_SM00262,superfamily_Actin depolymerizing proteins,superfamily_C-terminal gelsolin-like domain of Sec23/24 AVIL 10677 genome.wustl.edu 37 12 58204855 58204855 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006576.3 -1 reviewed p.D132N 0.000 168 0% 133 34.6% 0 - benign(0) tolerated(0.52) neutral(0.009) HMMSmart_SM00262,superfamily_Actin depolymerizing proteins LRIG3 121227 genome.wustl.edu 37 12 59282704 59282704 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153377.3 -1 provisional p.T234A 1.000 358 0% 235 23.8% 7 71.4% possibly_damaging(0.729) tolerated(0.15) deleterious(0.506) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like SLC16A7 9194 genome.wustl.edu 37 12 60098796 60098796 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004731.3 +1 provisional p.G72R 1.000 98 0% 67 20.9% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter FAM19A2 338811 genome.wustl.edu 37 12 62261196 62261196 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178539.3 -1 reviewed p.R4I 1.000 230 0% 205 30.7% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL MON2 23041 genome.wustl.edu 37 12 62929358 62929358 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015026.2 +1 validated p.A590V 1.000 133 0% 98 32.7% 0 - benign(0.004) tolerated(0.1) neutral(0.286) NULL MON2 23041 genome.wustl.edu 37 12 62949801 62949801 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015026.2 +1 validated p.R1080* 1.000 54 0% 53 32.1% 3 0% - - - superfamily_ARM-type_fold DPY19L2 283417 genome.wustl.edu 37 12 64002439 64002439 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173812.4 -1 validated p.R412I 0.983 113 0% 87 27.6% 0 - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_DUF2211 SRGAP1 57522 genome.wustl.edu 37 12 64238653 64238653 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020762.2 +1 validated p.S19 1.000 191 0% 123 30.1% 0 - - - - NULL SRGAP1 57522 genome.wustl.edu 37 12 64502736 64502736 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020762.2 +1 validated p.A613V 1.000 246 0% 239 28.5% 0 - benign(0.009) tolerated(1) neutral(0.001) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP SRGAP1 57522 genome.wustl.edu 37 12 64521459 64521459 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020762.2 +1 validated p.D832G 1.000 113 0% 85 30.6% 1 0% benign(0.004) tolerated(0.59) neutral(0.004) superfamily_SH3-domain C12orf56 115749 genome.wustl.edu 37 12 64664447 64664447 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099676.2 -1 validated p.S384 0.975 167 0% 159 22.6% 0 - - - - NULL C12orf56 115749 genome.wustl.edu 37 12 64697479 64697479 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099676.2 -1 validated p.S190Y 0.235 49 0% 30 20% 0 - benign(0) tolerated(0.95) - NULL XPOT 11260 genome.wustl.edu 37 12 64810527 64810527 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007235.3 +1 reviewed p.K65Q 1.000 100 0% 93 33.3% 14 28.5% probably_damaging(0.991) tolerated(0.16) deleterious(0.504) superfamily_ARM-type_fold TMBIM4 51643 genome.wustl.edu 37 12 66531887 66531887 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016056.2 -1 validated p.F190L 1.000 128 0% 94 22.3% 86 32.5% possibly_damaging(0.912) deleterious(0.01) deleterious(0.769) HMMPfam_UPF0005 GRIP1 23426 genome.wustl.edu 37 12 66838440 66838440 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021150.3 -1 reviewed p.F485 0.503 161 0% 113 30.1% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like IFNG 3458 genome.wustl.edu 37 12 68551865 68551865 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000619.2 -1 reviewed p.R65I 0.780 85 0% 83 33.7% 2 0% probably_damaging(0.975) deleterious(0.03) deleterious(0.781) HMMPfam_IFN-gamma,superfamily_4-helical cytokines IL26 55801 genome.wustl.edu 37 12 68595839 68595839 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018402.1 -1 reviewed p.E130* 0.997 88 0% 59 33.9% 0 - - - - superfamily_4_helix_cytokine,HMMPfam_IL10,HMMSmart_IL10 MDM1 56890 genome.wustl.edu 37 12 68696591 68696591 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017440.4 -1 reviewed p.P594H 0.999 320 0% 187 13.4% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NUP107 57122 genome.wustl.edu 37 12 69094629 69094629 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020401.2 +1 reviewed p.Y226H 1.000 139 0% 148 16.9% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nup84_Nup100 NUP107 57122 genome.wustl.edu 37 12 69103078 69103078 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020401.2 +1 reviewed p.R264* 1.000 117 0% 95 17.9% 10 0% - - - HMMPfam_Nup84_Nup100 NUP107 57122 genome.wustl.edu 37 12 69126423 69126423 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020401.2 +1 reviewed p.R669C 1.000 90 0% 49 34.7% 17 70.5% probably_damaging(0.967) deleterious(0.02) deleterious(0.792) HMMPfam_Nup84_Nup100 NUP107 57122 genome.wustl.edu 37 12 69127242 69127242 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020401.2 +1 reviewed p.K704N 0.996 118 0% 115 30.4% 25 76% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Nup84_Nup100 MDM2 4193 genome.wustl.edu 37 12 69222705 69222705 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002392.3 +1 reviewed p.S226 0.724 142 0% 141 27% 10 50% - - - superfamily_SWIB/MDM2 domain CPM 1368 genome.wustl.edu 37 12 69250396 69250396 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005502.2 -1 reviewed p.F385V 1.000 304 0% 279 31.9% 3 0% probably_damaging(0.969) tolerated(0.13) deleterious(0.664) HMMSmart_Zn_pept,superfamily_CarboxypepD_reg CCT2 10576 genome.wustl.edu 37 12 69981762 69981762 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006431.2 +1 reviewed p.T103 1.000 70 0% 83 28.9% 165 41.8% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,PatternScan_PROTEIN_KINASE_ATP KCNMB4 27345 genome.wustl.edu 37 12 70824419 70824419 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014505.4 +1 reviewed p.R207C 1.000 116 0% 127 32.3% 2 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL PTPRB 5787 genome.wustl.edu 37 12 70963598 70963598 + Missense_Mutation SNP C C A rs111634123 byCluster;byFrequency;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001109754.1 -1 reviewed p.S1164I 0.003 107 0% 117 23.1% 4 100% benign(0.424) tolerated(0.15) neutral(0.379) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRB 5787 genome.wustl.edu 37 12 70983962 70983962 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001109754.1 -1 reviewed p.S611Y 1.000 261 0% 210 34.8% 0 - possibly_damaging(0.902) deleterious(0.01) deleterious(0.762) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ZFC3H1 196441 genome.wustl.edu 37 12 72007207 72007207 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144982.4 -1 validated p.F1845L 1.000 55 0% 50 24% 3 66.6% benign(0.001) tolerated(0.11) neutral(0.272) NULL ZFC3H1 196441 genome.wustl.edu 37 12 72038680 72038680 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144982.4 -1 validated p.S419L 1.000 125 0% 82 29.3% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL ZFC3H1 196441 genome.wustl.edu 37 12 72057069 72057069 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144982.4 -1 validated p.E108K 1.000 88 0% 98 36.7% 4 0% unknown(0) deleterious(0) - NULL RAB21 23011 genome.wustl.edu 37 12 72176427 72176427 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014999.2 +1 provisional p.D175A 1.000 112 0% 90 20% 49 42.8% benign(0.013) tolerated(0.75) neutral(0.002) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 TBC1D15 64786 genome.wustl.edu 37 12 72278719 72278719 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022771.4 +1 reviewed p.V158I 1.000 155 0% 129 24.8% 6 33.3% possibly_damaging(0.808) tolerated(0.37) neutral(0.323) NULL CAPS2 84698 genome.wustl.edu 37 12 75683544 75683544 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032606.3 -1 validated p.E437* 1.000 168 0% 168 22% 0 - - - - NULL BBS10 79738 genome.wustl.edu 37 12 76740692 76740692 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024685.3 -1 reviewed p.S358L 0.002 169 0% 140 28.6% 5 60% possibly_damaging(0.448) tolerated(0.12) neutral(0.407) superfamily_GroEL-ATPase OSBPL8 114882 genome.wustl.edu 37 12 76796476 76796476 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020841.4 -1 reviewed p.S120Y 1.000 94 0% 50 26% 4 25% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL NAV3 89795 genome.wustl.edu 37 12 78515778 78515778 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014903.4 +1 validated p.K1270E 1.000 62 0% 59 35.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NAV3 89795 genome.wustl.edu 37 12 78569092 78569092 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014903.4 +1 validated p.R1663H 1.000 113 0% 75 32% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL NAV3 89795 genome.wustl.edu 37 12 78593174 78593174 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014903.4 +1 validated p.R2171Q 1.000 167 0% 189 30.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases NAV3 89795 genome.wustl.edu 37 12 78598824 78598824 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014903.4 +1 validated p.R2293Q 1.000 93 0% 92 26.1% 0 - probably_damaging(1) tolerated(0.36) deleterious(0.520) NULL OTOGL 283310 genome.wustl.edu 37 12 80623122 80623122 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343203.1 +1 model p.R133L 0.115 107 0% 123 29.3% 0 - benign(0.014) tolerated(0.45) neutral(0.013) HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80651695 80651695 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343203.1 +1 model p.R542I 1.000 96 0% 83 20.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_VWD,HMMSmart_SM00216 OTOGL 283310 genome.wustl.edu 37 12 80749626 80749626 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343203.1 +1 model p.E1799* 1.000 448 0% 368 27.7% 0 - - - - NULL MYF6 4618 genome.wustl.edu 37 12 81101837 81101837 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002469.2 +1 reviewed p.F113 1.000 60 0% 50 24% 0 - - - - HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain MYF5 4617 genome.wustl.edu 37 12 81111052 81111052 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005593.2 +1 validated p.W70* 1.000 30 0% 32 34.4% 0 - - - - HMMPfam_Basic,HMMSmart_BASIC LIN7A 8825 genome.wustl.edu 37 12 81239672 81239672 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004664.2 -1 validated p.R107Q 1.000 122 0% 133 27.1% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_PDZ domain-like ACSS3 79611 genome.wustl.edu 37 12 81472159 81472159 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024560.2 +1 validated p.Y87C 1.000 35 0% 30 23.3% 0 - possibly_damaging(0.677) tolerated(0.07) deleterious(0.560) superfamily_Acetyl-CoA synthetase-like PPFIA2 8499 genome.wustl.edu 37 12 81768531 81768531 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003625.2 -1 reviewed p.R383I 1.000 108 0% 102 28.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PPFIA2 8499 genome.wustl.edu 37 12 82147930 82147930 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003625.2 -1 reviewed p.G24V 1.000 77 0% 68 10.3% 0 - benign(0.148) deleterious(0.02) neutral(0.396) NULL PPFIA2 8499 genome.wustl.edu 37 12 82147967 82147967 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003625.2 -1 reviewed p.D12Y 1.000 59 0% 69 23.2% 0 - possibly_damaging(0.902) deleterious(0) deleterious(0.801) NULL CCDC59 29080 genome.wustl.edu 37 12 82746941 82746941 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014167.4 -1 validated p.E239* 0.998 181 0% 147 32.7% 49 46.9% - - - NULL SLC6A15 55117 genome.wustl.edu 37 12 85255473 85255473 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182767.4 -1 validated p.R711W 1.000 342 0% 231 33.3% 1 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL SLC6A15 55117 genome.wustl.edu 37 12 85279215 85279215 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182767.4 -1 validated p.T191 0.982 112 0% 132 27.3% 0 - - - - HMMPfam_SNF LRRIQ1 84125 genome.wustl.edu 37 12 85449454 85449454 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079910.1 +1 validated p.K295E 0.996 123 0% 105 24.8% 0 - probably_damaging(0.98) tolerated(0.51) neutral(0.433) HMMSmart_SM00015,superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85449901 85449901 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079910.1 +1 validated p.E444K 0.000 209 0% 213 30% 0 - benign(0.002) deleterious(0.02) neutral(0.383) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85450372 85450372 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079910.1 +1 validated p.D601Y 0.022 125 0% 166 33.1% 0 - benign(0) deleterious(0) neutral(0.445) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85450453 85450453 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079910.1 +1 validated p.V628I 0.000 136 0% 141 27.7% 0 - benign(0.047) tolerated(0.31) neutral(0.030) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85547849 85547849 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079910.1 +1 validated p.S1566L 0.991 41 0% 52 25% 0 - probably_damaging(0.957) deleterious(0.01) deleterious(0.806) NULL ALX1 8092 genome.wustl.edu 37 12 85677620 85677620 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006982.2 +1 reviewed p.A166V 1.000 95 0% 79 36.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 RASSF9 9182 genome.wustl.edu 37 12 86198958 86198958 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005447.3 -1 reviewed p.R277Q 0.694 313 0% 228 34.2% 0 - benign(0.016) tolerated(0.34) neutral(0.024) NULL NTS 4922 genome.wustl.edu 37 12 86272267 86272267 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006183.3 +1 reviewed p.D94Y 0.999 162 0% 101 26.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pro-NT_NN MGAT4C 25834 genome.wustl.edu 37 12 86373807 86373807 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013244.3 -1 validated p.F233V 1.000 95 1.1% 81 27.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Glyco_transf_54 CEP290 80184 genome.wustl.edu 37 12 88487655 88487655 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025114.3 -1 reviewed p.L1067F 1.000 58 0% 48 43.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP290 80184 genome.wustl.edu 37 12 88508238 88508238 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025114.3 -1 reviewed p.E671* 1.000 5 0.000 10 0.500 0 - - - - NULL CEP290 80184 genome.wustl.edu 37 12 88514815 88514815 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025114.3 -1 reviewed p.E440* 1.000 137 0% 92 35.9% 0 - - - - NULL TMTC3 160418 genome.wustl.edu 37 12 88588648 88588648 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181783.3 +1 reviewed p.R656Q 1.000 131 0% 100 32% 13 38.4% probably_damaging(1) tolerated(0.12) deleterious(0.760) superfamily_Prenyl_trans ATP2B1 490 genome.wustl.edu 37 12 90004246 90004246 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001682.2 -1 reviewed p.R763* 1.000 389 0% 264 26.9% 5 0% - - - HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81665 C12orf12 196477 genome.wustl.edu 37 12 91347494 91347494 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152638.2 -1 predicted p.E342D 0.002 152 0% 152 36.2% 0 - unknown(0) tolerated(0.61) - NULL EPYC 1833 genome.wustl.edu 37 12 91366662 91366662 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004950.4 -1 reviewed p.A146T 0.997 127 0% 117 22.2% 1 0% benign(0) tolerated(1) - HMMSmart_SM00013,superfamily_L domain-like KERA 11081 genome.wustl.edu 37 12 91445187 91445187 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007035.3 -1 reviewed p.I332T 1.000 108 0% 77 31.2% 0 - possibly_damaging(0.804) deleterious(0) deleterious(0.747) superfamily_SSF52058 KERA 11081 genome.wustl.edu 37 12 91449250 91449250 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007035.3 -1 reviewed p.S270L 1.000 229 0% 196 29.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_SSF52058 DCN 1634 genome.wustl.edu 37 12 91572143 91572143 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001920.3 -1 reviewed p.R63* 1.000 195 0% 149 13.4% 168 0% - - - HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like PLEKHG7 440107 genome.wustl.edu 37 12 93150097 93150097 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004330.2 +1 validated p.E210 0.999 71 0% 63 20.6% 0 - - - - superfamily_SSF50729 EEA1 8411 genome.wustl.edu 37 12 93245035 93245035 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003566.3 -1 validated p.R217I 1.000 68 0% 56 25% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PLXNC1 10154 genome.wustl.edu 37 12 94562965 94562965 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005761.1 +1 provisional p.A367T 0.746 227 0% 167 28.7% 1 0% benign(0.007) tolerated(0.62) neutral(0.004) superfamily_Sema PLXNC1 10154 genome.wustl.edu 37 12 94653401 94653401 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005761.1 +1 provisional p.D1048N 0.848 100 0% 99 21.2% 5 0% benign(0.004) tolerated(0.66) neutral(0.003) superfamily_Rho_GAP,HMMPfam_Plexin_cytopl PLXNC1 10154 genome.wustl.edu 37 12 94676114 94676114 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005761.1 +1 provisional p.I1272 0.959 119 0% 109 23.9% 0 - - - - superfamily_Rho_GAP,HMMPfam_Plexin_cytopl PLXNC1 10154 genome.wustl.edu 37 12 94692481 94692481 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005761.1 +1 provisional p.A1383D 1.000 117 0% 90 24.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Rho_GAP,HMMPfam_Plexin_cytopl CCDC41 51134 genome.wustl.edu 37 12 94772672 94772672 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042399.1 -1 validated p.A232 0.980 766 0% 579 26.9% 1 0% - - - NULL TMCC3 57458 genome.wustl.edu 37 12 94965346 94965346 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020698.2 -1 validated p.A433 0.976 297 0% 225 31.6% 10 50% - - - HMMPfam_Tmemb_cc2 NR2C1 7181 genome.wustl.edu 37 12 95452103 95452103 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003297.2 -1 reviewed p.F176C 1.000 110 0% 110 29.1% 7 85.7% possibly_damaging(0.753) tolerated(0.2) neutral(0.326) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) FGD6 55785 genome.wustl.edu 37 12 95486580 95486580 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018351.3 -1 validated p.S1214 0.830 78 0% 59 32.2% 6 33.3% - - - HMMSmart_SM00064 FGD6 55785 genome.wustl.edu 37 12 95603558 95603558 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018351.3 -1 validated p.R501I 0.994 267 0% 310 24.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AMDHD1 144193 genome.wustl.edu 37 12 96354228 96354228 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152435.2 +1 validated p.K214Q 0.024 106 0% 106 25.5% 0 - benign(0.001) tolerated(0.56) neutral(0.006) superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases HAL 3034 genome.wustl.edu 37 12 96387586 96387586 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002108.2 -1 reviewed p.K172T 1.000 181 0% 136 12.5% 0 - benign(0.001) tolerated(0.35) neutral(0.021) HMMPfam_PAL,superfamily_L-Aspartase-like C12orf63 374467 genome.wustl.edu 37 12 97084963 97084963 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198520.2 +1 validated p.E472* 1.000 167 0% 160 30.6% 0 - - - - NULL C12orf63 374467 genome.wustl.edu 37 12 97093771 97093771 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198520.2 +1 validated p.R550I 0.408 153 0% 214 50.5% 0 - unknown(0) deleterious(0.01) - NULL C12orf63 374467 genome.wustl.edu 37 12 97133791 97133791 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198520.2 +1 validated p.K766N 0.989 264 0% 188 26.1% 0 - unknown(0) deleterious(0.03) - NULL C12orf63 374467 genome.wustl.edu 37 12 97150280 97150280 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198520.2 +1 validated p.F1054V 0.000 44 0% 57 40.4% 0 - unknown(0) tolerated(0.51) - NULL NEDD1 121441 genome.wustl.edu 37 12 97345796 97345796 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135175.1 +1 validated p.R657* 0.996 117 0.9% 88 30.7% 16 31.2% - - - NULL LOC121456 121456 genome.wustl.edu 37 12 98849996 98849996 + RNA SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_016411.2 -1 model NULL 1.000 49 0% 51 29.4% 0 - - - - - TMPO 7112 genome.wustl.edu 37 12 98927110 98927110 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003276.2 +1 reviewed p.A359T 0.378 111 0% 90 27.8% 24 37.5% benign(0.008) tolerated(0.14) neutral(0.249) NULL TMPO 7112 genome.wustl.edu 37 12 98927478 98927478 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003276.2 +1 reviewed p.Q481 0.997 91 0% 92 30.4% 24 37.5% - - - NULL SLC25A3 5250 genome.wustl.edu 37 12 98991811 98991811 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005888.3 +1 reviewed p.E154K 1.000 117 0% 68 29.4% 540 43.3% probably_damaging(0.988) tolerated(0.1) deleterious(0.724) superfamily_Mitochondrial carrier IKBIP 121457 genome.wustl.edu 37 12 99008081 99008081 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201612.1 -1 provisional p.S112Y 1.000 72 0% 59 30.5% 10 40% benign(0.163) tolerated(0.15) neutral(0.256) NULL IKBIP 121457 genome.wustl.edu 37 12 99019780 99019780 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153687.2 -1 provisional p.Y354* 0.548 88 0% 85 16.5% 7 0% - - - NULL APAF1 317 genome.wustl.edu 37 12 99064761 99064761 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181861.1 +1 reviewed p.A502D 1.000 146 0% 116 21.6% 1 100% benign(0.001) tolerated(0.44) neutral(0.013) superfamily_WD40 repeat-like ANKS1B 56899 genome.wustl.edu 37 12 99129342 99129342 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152788.3 -1 validated p.F1248C 0.010 80 0% 66 34.8% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL ANKS1B 56899 genome.wustl.edu 37 12 99837458 99837458 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152788.3 -1 validated p.R523Q 1.000 127 0.8% 129 24% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANKS1B 56899 genome.wustl.edu 37 12 100048962 100048962 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152788.3 -1 validated p.S385 1.000 139 0% 89 21.3% 0 - - - - NULL SCYL2 55681 genome.wustl.edu 37 12 100685392 100685392 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017988.4 +1 provisional p.R97* 1.000 228 0% 183 10.4% 10 20% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) GAS2L3 283431 genome.wustl.edu 37 12 100994187 100994187 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174942.1 +1 provisional p.S16R 0.986 271 0% 218 26.6% 3 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GAS2L3 283431 genome.wustl.edu 37 12 101012322 101012322 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174942.1 +1 provisional p.S202I 0.842 85 0% 97 28.9% 0 - benign(0.002) tolerated(0.07) neutral(0.319) NULL ANO4 121601 genome.wustl.edu 37 12 101333128 101333128 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178826.3 +1 validated p.E31* 1.000 198 0% 138 33.3% 0 - - - - NULL ANO4 121601 genome.wustl.edu 37 12 101336239 101336239 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178826.3 +1 validated p.S93A 1.000 316 0% 257 29.6% 0 - benign(0.023) tolerated(0.3) neutral(0.030) NULL ANO4 121601 genome.wustl.edu 37 12 101430881 101430881 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178826.3 +1 validated p.R249C 1.000 355 0% 254 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANO4 121601 genome.wustl.edu 37 12 101433760 101433760 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178826.3 +1 validated p.R274* 0.994 300 0% 237 31.2% 0 - - - - NULL ANO4 121601 genome.wustl.edu 37 12 101490408 101490408 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178826.3 +1 validated p.I576 0.080 103 0% 70 30% 0 - - - - NULL ANO4 121601 genome.wustl.edu 37 12 101510498 101510498 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178826.3 +1 validated p.R796Q 0.989 265 0% 172 29.1% 0 - benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_DUF590 SLC5A8 160728 genome.wustl.edu 37 12 101560273 101560273 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145913.3 -1 validated p.R509 1.000 88 0% 65 38.5% 0 - - - - NULL SLC5A8 160728 genome.wustl.edu 37 12 101576648 101576648 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145913.3 -1 validated p.E366D 1.000 214 0% 136 35.3% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_SSF SLC5A8 160728 genome.wustl.edu 37 12 101603367 101603367 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145913.3 -1 validated p.I87S 0.972 32 0% 21 28.6% 0 - benign(0) tolerated(0.33) neutral(0.024) HMMPfam_SSF UTP20 27340 genome.wustl.edu 37 12 101705858 101705858 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014503.2 +1 validated p.D786Y 0.804 169 0% 154 37% 1 100% benign(0.427) deleterious(0.01) deleterious(0.544) superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101705963 101705963 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014503.2 +1 validated p.R821G 0.999 209 0.5% 200 32% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat MYBPC1 4604 genome.wustl.edu 37 12 102056297 102056297 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002465.2 +1 validated p.M732V 0.997 206 0% 181 28.7% 0 - benign(0) tolerated(0.29) neutral(0.029) superfamily_Fibronectin type III GNPTAB 79158 genome.wustl.edu 37 12 102164827 102164827 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024312.4 -1 reviewed p.E294* 1.000 322 0.3% 237 51.9% 1 0% - - - NULL ENSG00000238940 0 genome.wustl.edu 37 12 102183597 102183597 + RNA SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000459085 +1 novel NULL 0.980 114 0% 122 36.1% 0 - - - - - GNPTAB 79158 genome.wustl.edu 37 12 102183810 102183810 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024312.4 -1 reviewed p.V77I 1.000 449 0% 335 24.5% 3 0% benign(0.32) tolerated(0.33) neutral(0.124) NULL NUP37 79023 genome.wustl.edu 37 12 102505968 102505968 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024057.2 -1 provisional p.R67* 0.990 197 0% 186 29% 23 17.3% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like C12orf42 374470 genome.wustl.edu 37 12 103700003 103700003 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099336.1 -1 validated p.F127S 0.000 91 0% 102 31.4% 0 - benign(0) tolerated(0.59) neutral(0.004) NULL C12orf42 374470 genome.wustl.edu 37 12 103762757 103762757 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099336.1 -1 validated p.R56I 0.005 54 0% 48 18.8% 0 - possibly_damaging(0.923) tolerated(0.2) neutral(0.421) NULL STAB2 55576 genome.wustl.edu 37 12 104030995 104030995 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017564.9 +1 reviewed p.G230 0.019 330 0% 242 31.4% 0 - - - - HMMSmart_EGF STAB2 55576 genome.wustl.edu 37 12 104033909 104033909 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017564.9 +1 reviewed p.C305 0.998 221 0% 151 30.5% 0 - - - - NULL STAB2 55576 genome.wustl.edu 37 12 104131549 104131549 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017564.9 +1 reviewed p.F1896 0.004 180 0% 150 36% 0 - - - - NULL GLT8D2 83468 genome.wustl.edu 37 12 104383347 104383347 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031302.3 -1 provisional p.P297S 1.000 349 0% 254 33.9% 28 21.4% benign(0) tolerated(0.45) neutral(0.012) HMMPfam_Glyco_transf_8,superfamily_SSF53448 GLT8D2 83468 genome.wustl.edu 37 12 104408855 104408855 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031302.3 -1 provisional p.I16 0.688 76 0% 84 31% 15 6.6% - - - NULL HCFC2 29915 genome.wustl.edu 37 12 104490143 104490143 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013320.2 +1 reviewed p.E558* 1.000 122 0% 96 35.4% 0 - - - - HMMSmart_SM00060,superfamily_Fibronectin type III EID3 493861 genome.wustl.edu 37 12 104697977 104697977 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008394.1 +1 provisional p.D89N 0.427 116 0% 109 30.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nse4 KIAA1033 23325 genome.wustl.edu 37 12 105543490 105543490 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015275.1 +1 validated p.R871Q 1.000 309 0% 226 56.6% 1 0% probably_damaging(0.997) tolerated(0.05) deleterious(0.811) NULL NUAK1 9891 genome.wustl.edu 37 12 106464624 106464624 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014840.2 -1 validated p.D254N 1.000 97 0% 81 27.2% 2 0% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LOC100130905 100130905 genome.wustl.edu 37 12 106632617 106632617 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001715433.1 +1 model p.E63D 0.000 45 0% 44 25% 69 26% - - - NULL TCP11L2 255394 genome.wustl.edu 37 12 106729809 106729809 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152772.1 +1 provisional e7-1 1.000 158 0% 154 29.9% 0 - - - - - RFX4 5992 genome.wustl.edu 37 12 107002658 107002658 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_213594.1 +1 reviewed p.E43* 1.000 210 0% 186 32.3% 0 - - - - NULL RFX4 5992 genome.wustl.edu 37 12 107078653 107078653 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032491.4 +1 reviewed p.S21L 0.003 56 0% 53 39.6% 0 - benign(0.026) deleterious(0.04) neutral(0.350) NULL C12orf23 90488 genome.wustl.edu 37 12 107365024 107365024 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152261.2 +1 validated p.K69T 1.000 211 0% 200 22% 13 38.4% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL BTBD11 121551 genome.wustl.edu 37 12 108004016 108004016 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001018072.1 +1 validated p.E565K 1.000 144 0% 128 37.5% 0 - probably_damaging(0.979) tolerated(0.81) neutral(0.422) NULL WSCD2 9671 genome.wustl.edu 37 12 108620797 108620797 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014653.2 +1 validated p.A279T 0.958 101 0% 109 28.4% 0 - benign(0.001) tolerated(0.57) neutral(0.006) HMMPfam_WSC,HMMSmart_SM00321 WSCD2 9671 genome.wustl.edu 37 12 108620938 108620938 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014653.2 +1 validated p.Q326K 1.000 102 0% 92 31.5% 0 - benign(0.004) tolerated(0.08) neutral(0.300) superfamily_P-loop containing nucleoside triphosphate hydrolases CMKLR1 1240 genome.wustl.edu 37 12 108685787 108685787 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142343.1 -1 validated p.F318S 1.000 117 0% 128 26.6% 8 12.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Family A G protein-coupled receptor-like FICD 11153 genome.wustl.edu 37 12 108912415 108912415 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007076.2 +1 validated p.R180 0.998 126 0% 95 32.6% 4 75% - - - superfamily_SSF48452 SELPLG 6404 genome.wustl.edu 37 12 109017291 109017291 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003006.3 -1 reviewed p.E255* 0.000 77 0% 78 30.8% 15 0% - - - NULL CORO1C 23603 genome.wustl.edu 37 12 109095038 109095038 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014325.2 -1 reviewed p.K19N 1.000 212 0% 190 32.6% 25 20% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_DUF1899 DAO 1610 genome.wustl.edu 37 12 109278859 109278859 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001917.4 +1 reviewed p.V26A 0.000 89 0% 103 30.1% 0 - benign(0) tolerated(0.56) neutral(0.006) HMMPfam_DAO,superfamily_Nucleotide-binding domain USP30 84749 genome.wustl.edu 37 12 109522840 109522840 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032663.3 +1 validated p.A417 0.000 523 0% 303 37% 5 60% - - - HMMPfam_UCH,superfamily_SSF54001 ACACB 32 genome.wustl.edu 37 12 109605782 109605782 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001093.3 +1 reviewed p.E290K 1.000 97 0% 98 35.7% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp domain ACACB 32 genome.wustl.edu 37 12 109678975 109678975 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001093.3 +1 reviewed p.R1637 1.000 192 0% 223 34.1% 0 - - - - HMMPfam_ACC_central ACACB 32 genome.wustl.edu 37 12 109687841 109687841 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001093.3 +1 reviewed p.L1908 0.999 166 0% 145 29.7% 1 0% - - - HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase ACACB 32 genome.wustl.edu 37 12 109692070 109692070 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001093.3 +1 reviewed p.E2033K 1.000 442 0% 372 31.2% 0 - benign(0.22) tolerated(0.28) neutral(0.053) HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase FOXN4 121643 genome.wustl.edu 37 12 109723189 109723189 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_213596.2 -1 validated p.R274H 1.000 69 0% 92 39.1% 0 - possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" KCTD10 83892 genome.wustl.edu 37 12 109907527 109907527 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031954.3 -1 provisional p.M4L 1.000 50 0% 51 19.6% 4 50% unknown(0) tolerated(1) - NULL C12orf34 84915 genome.wustl.edu 37 12 110205823 110205823 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032829.2 +1 validated p.A30V 0.953 24 0% 15 26.7% 2 100% benign(0.001) deleterious(0.04) neutral(0.349) NULL GLTP 51228 genome.wustl.edu 37 12 110295392 110295392 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016433.3 -1 reviewed p.E79* 1.000 61 0% 74 35.1% 33 27.2% - - - HMMPfam_GLTP,superfamily_Glycolipid transfer protein GLTP FAM216A 29902 genome.wustl.edu 37 12 110925735 110925735 + Silent SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013300.2 +1 validated p.L230 0.989 68 0% 57 38.6% 5 40% - - - NULL PPP1CC 5501 genome.wustl.edu 37 12 111157950 111157950 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000340766 -1 known p.L335I 1.000 20 0.000 8 0.500 204 42.1% unknown(0) deleterious(0) - NULL BRAP 8315 genome.wustl.edu 37 12 112117032 112117032 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006768.3 -1 reviewed p.E186K 1.000 60 0% 57 19.3% 13 38.4% benign(0.005) tolerated(0.55) neutral(0.007) HMMPfam_BRAP2 RPL6 6128 genome.wustl.edu 37 12 112846052 112846052 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000970.3 -1 reviewed p.R110C 1.000 144 0% 154 33.1% 1338 62.1% benign(0.041) deleterious(0) neutral(0.447) NULL RPH3A 22895 genome.wustl.edu 37 12 113306258 113306258 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143854.1 +1 validated p.W156* 1.000 161 0% 97 26.8% 0 - - - - HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger OAS1 4938 genome.wustl.edu 37 12 113344933 113344933 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001032409.1 +1 reviewed p.I30T 0.086 305 0% 311 31.2% 8 0% benign(0.221) deleterious(0.02) neutral(0.405) superfamily_Nucleotidyltransferase OAS1 4938 genome.wustl.edu 37 12 113348944 113348944 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001032409.1 +1 reviewed p.F186 1.000 294 0% 285 30.2% 31 9.6% benign(0.009) tolerated(0.08) neutral(0.300) HMMPfam_OAS1_C,superfamily_Nucleotidyltransferase OAS2 4939 genome.wustl.edu 37 12 113442841 113442841 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016817.2 +1 reviewed p.R428W 0.000 135 0.7% 170 29.4% 7 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase OAS2 4939 genome.wustl.edu 37 12 113442958 113442958 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016817.2 +1 reviewed p.F467V 0.363 167 0% 169 32.5% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase OAS2 4939 genome.wustl.edu 37 12 113446914 113446914 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016817.2 +1 reviewed p.E640K 0.024 444 0% 410 28.8% 8 0% possibly_damaging(0.712) deleterious(0) deleterious(0.702) PatternScan_25A_SYNTH_2,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain RASAL1 8437 genome.wustl.edu 37 12 113557030 113557030 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004658.1 -1 reviewed p.E182G 1.000 129 0% 119 34.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TPCN1 53373 genome.wustl.edu 37 12 113704000 113704000 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143819.1 +1 validated p.D157N 1.000 120 0.8% 114 36.8% 3 66.6% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL SDS 10993 genome.wustl.edu 37 12 113835050 113835050 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006843.2 -1 reviewed p.I191 0.996 24 0% 36 25% 2 0% - - - HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu LOC100287933 100287933 genome.wustl.edu 37 12 113906985 113906985 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343216.1 +1 model p.E410K 0.998 57 0% 32 34.4% 0 - - - - NULL TBX5 6910 genome.wustl.edu 37 12 114793348 114793348 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000192.3 -1 reviewed p.D516N 1.000 85 0% 87 36.8% 0 - benign(0.002) deleterious(0.01) neutral(0.406) NULL TBX5 6910 genome.wustl.edu 37 12 114793419 114793419 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000192.3 -1 reviewed p.G492D 1.000 75 0% 81 27.2% 0 - benign(0.039) deleterious(0.05) neutral(0.347) NULL TBX5 6910 genome.wustl.edu 37 12 114841627 114841627 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000192.3 -1 reviewed p.S26L 0.001 56 0% 53 34% 0 - benign(0.014) tolerated(0.4) neutral(0.017) NULL MED13L 23389 genome.wustl.edu 37 12 116429043 116429043 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015335.3 -1 validated p.S1239* 0.998 131 0% 157 33.1% 5 60% - - - NULL MED13L 23389 genome.wustl.edu 37 12 116446598 116446598 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015335.3 -1 validated p.M540I 0.998 69 0% 88 19.3% 3 0% benign(0.001) tolerated(0.43) neutral(0.013) NULL MED13L 23389 genome.wustl.edu 37 12 116534535 116534535 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015335.3 -1 validated p.V140I 1.000 176 0% 135 28.9% 0 - possibly_damaging(0.792) tolerated(0.21) neutral(0.341) NULL FBXW8 26259 genome.wustl.edu 37 12 117365862 117365862 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153348.2 +1 reviewed p.Q118P 0.992 166 0% 110 24.5% 2 0% possibly_damaging(0.842) tolerated(0.07) deleterious(0.641) HMMPfam_F-box,superfamily_F-box domain NOS1 4842 genome.wustl.edu 37 12 117665323 117665323 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000620.2 -1 reviewed p.P1177S 1.000 61 0% 52 32.7% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_FAD_binding_1,superfamily_Riboflavin synthase domain-like KSR2 283455 genome.wustl.edu 37 12 117968755 117968755 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173598.4 -1 validated p.S569L 0.999 162 0% 99 34.3% 0 - possibly_damaging(0.915) tolerated(0.06) deleterious(0.689) NULL KSR2 283455 genome.wustl.edu 37 12 118298127 118298127 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173598.4 -1 validated p.R68Q 1.000 47 0% 66 28.8% 0 - possibly_damaging(0.516) tolerated(0.47) neutral(0.184) NULL SUDS3 64426 genome.wustl.edu 37 12 118829009 118829009 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022491.2 +1 validated p.K147E 1.000 216 0% 172 21.5% 13 53.8% probably_damaging(0.996) tolerated(0.28) deleterious(0.493) HMMPfam_Sds3 CIT 11113 genome.wustl.edu 37 12 120139679 120139679 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007174.1 -1 validated p.D1755N 1.000 141 0% 147 29.3% 8 62.5% benign(0.117) tolerated(0.07) neutral(0.329) HMMPfam_CNH,HMMSmart_SM00036 CIT 11113 genome.wustl.edu 37 12 120172963 120172963 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007174.1 -1 validated e23+2 1.000 152 0% 118 31.4% 0 - - - - - CIT 11113 genome.wustl.edu 37 12 120204980 120204980 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007174.1 -1 validated p.E697K 1.000 314 0% 279 32.3% 0 - probably_damaging(0.998) tolerated(0.54) deleterious(0.482) NULL CIT 11113 genome.wustl.edu 37 12 120241120 120241120 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007174.1 -1 validated p.S395 1.000 170 0.6% 151 29.8% 0 - - - - HMMSmart_SM00133,HMMPfam_Pkinase_C CCDC64 92558 genome.wustl.edu 37 12 120509561 120509561 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207311.2 +1 validated p.E349K 0.999 41 0% 41 34.1% 7 14.2% possibly_damaging(0.553) tolerated(0.17) neutral(0.247) NULL RNF10 9921 genome.wustl.edu 37 12 121014433 121014433 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014868.4 +1 reviewed p.K800 1.000 248 0% 195 29.7% 109 38.5% - - - NULL CABP1 9478 genome.wustl.edu 37 12 121088470 121088470 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031205.2 +1 reviewed p.R10 1.000 104 0% 90 27.8% 1 0% - - - NULL CABP1 9478 genome.wustl.edu 37 12 121094058 121094058 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031205.2 +1 reviewed p.A70T 1.000 19 0% 28 25% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL SPPL3 121665 genome.wustl.edu 37 12 121248644 121248644 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139015.3 -1 validated p.I23M 1.000 227 0% 234 34.6% 12 66.6% probably_damaging(0.999) tolerated(0.36) deleterious(0.510) NULL OASL 8638 genome.wustl.edu 37 12 121476745 121476745 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003733.2 -1 validated p.T10 0.007 17 0% 41 24.4% 0 - unknown(0) - - superfamily_Nucleotidyltransferase P2RX7 5027 genome.wustl.edu 37 12 121603214 121603214 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002562.4 +1 reviewed p.I196 0.553 111 0% 92 25% 0 - - - - HMMPfam_P2X_receptor P2RX7 5027 genome.wustl.edu 37 12 121613248 121613248 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002562.4 +1 reviewed p.F313 0.976 182 0% 129 34.9% 0 - - - - HMMPfam_P2X_receptor RNF34 80196 genome.wustl.edu 37 12 121858093 121858093 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194271.1 +1 reviewed p.D229N 0.044 41 0% 36 22.2% 30 33.3% possibly_damaging(0.818) tolerated(0.23) neutral(0.350) NULL KDM2B 84678 genome.wustl.edu 37 12 121970752 121970752 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032590.4 -1 reviewed p.R297I 1.000 33 0% 36 33.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like TMEM120B 144404 genome.wustl.edu 37 12 122199565 122199565 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080825.2 +1 validated p.E158K 0.999 33 0% 29 24.1% 5 60% benign(0.268) tolerated(0.77) neutral(0.030) HMMPfam_TMPIT PSMD9 5715 genome.wustl.edu 37 12 122337551 122337551 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002813.4 +1 reviewed p.D85Y 1.000 15 0% 26 26.9% 79 29.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WDR66 144406 genome.wustl.edu 37 12 122380855 122380855 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144668.4 +1 validated p.E389K 0.001 188 0% 206 37.4% 9 77.7% benign(0.119) tolerated(0.71) neutral(0.011) superfamily_WD40 repeat-like WDR66 144406 genome.wustl.edu 37 12 122396425 122396425 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144668.4 +1 validated p.E660K 0.902 403 0% 433 35.1% 4 75% benign(0.172) tolerated(0.3) neutral(0.044) HMMSmart_SM00320,superfamily_WD40 repeat-like WDR66 144406 genome.wustl.edu 37 12 122441593 122441593 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144668.4 +1 validated p.E1125K 0.997 73 0% 70 11.4% 1 0% possibly_damaging(0.736) tolerated(0.74) neutral(0.271) NULL LRRC43 254050 genome.wustl.edu 37 12 122677364 122677364 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098519.1 +1 validated p.E388K 0.000 92 0% 77 26% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL VPS33A 65082 genome.wustl.edu 37 12 122745892 122745892 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022916.4 -1 validated p.S133 1.000 200 0% 252 32.9% 12 25% - - - HMMPfam_Sec1,superfamily_Sec1-like RSRC2 65117 genome.wustl.edu 37 12 123003589 123003589 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198261.2 -1 validated p.F6L 1.000 156 0% 160 30% 1 100% unknown(0) deleterious(0) - NULL ABCB9 23457 genome.wustl.edu 37 12 123430699 123430699 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019625.3 -1 reviewed p.M375T 1.000 31 0% 15 46.7% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain MPHOSPH9 10198 genome.wustl.edu 37 12 123648553 123648553 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022782.2 -1 validated p.S799L 0.103 195 0% 191 29.3% 4 25% possibly_damaging(0.832) tolerated(0.12) deleterious(0.578) NULL SBNO1 55206 genome.wustl.edu 37 12 123801827 123801827 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018183.3 -1 validated p.R958Q 1.000 123 0% 85 22.4% 11 36.3% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL SBNO1 55206 genome.wustl.edu 37 12 123805383 123805383 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018183.3 -1 validated p.K784T 1.000 224 0% 177 28.2% 7 57.1% probably_damaging(0.98) tolerated(0.34) neutral(0.447) NULL SETD8 387893 genome.wustl.edu 37 12 123892122 123892122 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020382.3 +1 validated p.D311Y 1.000 118 0% 107 20.6% 17 23.5% benign(0.392) deleterious(0.02) deleterious(0.508) HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 RILPL2 196383 genome.wustl.edu 37 12 123907595 123907595 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145058.1 -1 provisional p.K201Q 0.732 38 0% 76 43.4% 23 21.7% probably_damaging(0.989) deleterious(0.04) deleterious(0.788) NULL TMED2 10959 genome.wustl.edu 37 12 124071385 124071385 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006815.3 +1 validated p.K91R 1.000 76 0% 102 22.5% 258 44.1% benign(0.046) tolerated(0.56) neutral(0.009) HMMPfam_EMP24_GP25L,superfamily_Supernatant protein factor (SPF) C-terminal domain DDX55 57696 genome.wustl.edu 37 12 124102348 124102348 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020936.1 +1 reviewed p.G365R 0.001 60 0% 57 24.6% 4 0% benign(0) tolerated(0.22) neutral(0.042) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124268577 124268577 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207437.3 +1 validated p.P300 0.000 130 0% 95 32.6% 0 - - - - HMMPfam_DHC_N1 DNAH10 196385 genome.wustl.edu 37 12 124281333 124281333 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207437.3 +1 validated p.R588Q 0.235 246 0% 275 62.2% 0 - possibly_damaging(0.671) tolerated(0.59) neutral(0.242) HMMPfam_DHC_N1 DNAH10 196385 genome.wustl.edu 37 12 124298198 124298198 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000447853 +1 known p.R1093H 0.000 219 0% 238 13.9% 0 - - - - NULL DNAH10 196385 genome.wustl.edu 37 12 124323215 124323215 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207437.3 +1 validated p.C1587 1.000 215 0% 170 30% 0 - - - - HMMPfam_DHC_N2 DNAH10 196385 genome.wustl.edu 37 12 124393865 124393865 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207437.3 +1 validated p.M3173I 1.000 6 0.000 13 0.385 0 - benign(0.001) tolerated(0.08) neutral(0.300) NULL DNAH10 196385 genome.wustl.edu 37 12 124399093 124399093 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207437.3 +1 validated p.S3406R 1.000 8 0.000 16 0.375 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL DNAH10 196385 genome.wustl.edu 37 12 124399487 124399487 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207437.3 +1 validated p.D3437N 1.000 13 0% 14 35.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NCOR2 9612 genome.wustl.edu 37 12 124840004 124840004 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006312.3 -1 validated p.E1126K 1.000 11 0% 11 45.5% 58 27.5% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL NCOR2 9612 genome.wustl.edu 37 12 124968163 124968163 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006312.3 -1 validated p.A130 0.000 19 0% 19 36.8% 21 42.8% - - - NULL UBC 7316 genome.wustl.edu 37 12 125396291 125396291 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021009.4 -1 validated p.H676R 1.000 214 0% 188 28.2% 1327 33.4% possibly_damaging(0.881) deleterious(0) deleterious(0.788) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like AACS 65985 genome.wustl.edu 37 12 125603198 125603198 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023928.3 +1 validated p.M336I 1.000 11 0% 18 66.7% 3 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like TMEM132B 114795 genome.wustl.edu 37 12 125834587 125834587 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052907.2 +1 provisional p.T214 1.000 103 0% 102 37.3% 0 - - - - NULL TMEM132B 114795 genome.wustl.edu 37 12 126139041 126139041 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052907.2 +1 provisional p.E1008* 1.000 134 0% 126 27% 0 - - - - NULL TMEM132D 121256 genome.wustl.edu 37 12 129566392 129566392 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133448.2 -1 validated p.D612G 0.995 68 0% 60 20% 0 - benign(0.31) tolerated(0.09) neutral(0.393) NULL FZD10 11211 genome.wustl.edu 37 12 130649008 130649008 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007197.2 +1 reviewed p.K507N 0.133 18 0% 20 35% 24 70.8% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Frizzled PIWIL1 9271 genome.wustl.edu 37 12 130832683 130832683 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004764.3 +1 reviewed p.R230Q 1.000 114 0% 83 30.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PAZ domain RIMBP2 23504 genome.wustl.edu 37 12 130884250 130884250 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015347.4 -1 validated p.T1036A 0.001 223 0% 238 32.4% 0 - benign(0.001) tolerated(0.48) neutral(0.011) superfamily_SH3-domain STX2 2054 genome.wustl.edu 37 12 131276459 131276459 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001980.2 -1 reviewed p.T284A 1.000 92 0% 60 30% 5 20% benign(0.059) tolerated(0.54) neutral(0.011) NULL STX2 2054 genome.wustl.edu 37 12 131297566 131297566 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194356.1 -1 reviewed p.E72D 0.938 200 0% 97 26.8% 0 - benign(0.01) tolerated(0.6) neutral(0.005) HMMPfam_Syntaxin,HMMSmart_SM00503,superfamily_t-snare proteins SFSWAP 6433 genome.wustl.edu 37 12 132204042 132204042 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004592.2 +1 reviewed p.F188 0.984 88 0% 85 60% 10 90% - - - superfamily_Surp module (SWAP domain Pfam 01805) SFSWAP 6433 genome.wustl.edu 37 12 132212924 132212924 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004592.2 +1 reviewed p.N344 0.000 112 0% 87 40.2% 10 50% - - - NULL ULK1 8408 genome.wustl.edu 37 12 132394807 132394807 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003565.2 +1 validated p.F273V 1.000 36 0% 28 32.1% 10 10% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EP400 57634 genome.wustl.edu 37 12 132516567 132516567 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015409.3 +1 validated p.T1941A 0.005 102 0% 117 31.6% 12 58.3% unknown(0) - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 EP400 57634 genome.wustl.edu 37 12 132516678 132516678 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015409.3 +1 validated p.D1978Y 1.000 105 0% 105 30.5% 5 60% unknown(0) - - superfamily_SSF52540 EP400 57634 genome.wustl.edu 37 12 132529956 132529956 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015409.3 +1 validated p.R2292C 0.997 53 0% 41 36.6% 10 20% unknown(0) - - NULL EP400 57634 genome.wustl.edu 37 12 132534894 132534894 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015409.3 +1 validated p.T2408 0.137 118 0% 100 36% 18 38.8% - - - NULL POLE 5426 genome.wustl.edu 37 12 133202291 133202291 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006231.2 -1 validated p.I2199 0.636 70 0% 37 27% 26 38.4% - - - NULL POLE 5426 genome.wustl.edu 37 12 133215787 133215787 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006231.2 -1 validated p.R1826W 1.000 33 0% 46 37% 16 43.7% possibly_damaging(0.868) deleterious(0.02) deleterious(0.720) HMMPfam_DUF1744 POLE 5426 genome.wustl.edu 37 12 133226355 133226355 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006231.2 -1 validated p.L1235I 0.984 65 0% 78 30.8% 3 66.6% benign(0.006) tolerated(0.5) neutral(0.010) NULL POLE 5426 genome.wustl.edu 37 12 133250289 133250289 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006231.2 -1 validated p.V411L 1.000 351 0% 260 51.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold ANKLE2 23141 genome.wustl.edu 37 12 133331649 133331649 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015114.1 -1 validated p.I84 0.463 126 0% 95 23.2% 15 46.6% - - - HMMPfam_LEM,superfamily_LEM domain ENSG00000214029 0 genome.wustl.edu 37 12 133697516 133697516 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000397313 -1 known p.K330T 0.000 12 0% 14 28.6% 0 - possibly_damaging(0.643) tolerated(0.48) neutral(0.236) HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF268 10795 genome.wustl.edu 37 12 133780587 133780587 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003415.2 +1 validated p.R772Q 0.834 32 0% 27 33.3% 7 28.5% probably_damaging(0.992) tolerated(0.62) neutral(0.452) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TUBA3C 7278 genome.wustl.edu 37 13 19748203 19748203 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006001.1 -1 reviewed p.A385T 1.000 118 0.8% 114 41.2% 0 - possibly_damaging(0.491) deleterious(0) deleterious(0.608) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C TUBA3C 7278 genome.wustl.edu 37 13 19751171 19751171 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006001.1 -1 reviewed p.L318 1.000 125 0% 125 26.4% 0 - - - - superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C TPTE2 93492 genome.wustl.edu 37 13 19997290 19997290 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199254.2 -1 validated p.R494K 0.920 149 0% 138 35.5% 0 - benign(0.038) tolerated(1) neutral(0.002) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 TPTE2 93492 genome.wustl.edu 37 13 20012253 20012253 + Silent SNP G G A rs190246221 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199254.2 -1 validated p.S338 0.000 274 0.4% 194 27.8% 0 - - - - superfamily_(Phosphotyrosine protein) phosphatases II TPTE2 93492 genome.wustl.edu 37 13 20025334 20025334 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199254.2 -1 validated p.R258Q 0.008 102 0% 82 40.2% 0 - benign(0.004) tolerated(0.48) neutral(0.011) superfamily_(Phosphotyrosine protein) phosphatases II TPTE2 93492 genome.wustl.edu 37 13 20039660 20039660 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199254.2 -1 validated p.R186I 0.987 150 0% 150 32.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Voltage-gated potassium channels MPHOSPH8 54737 genome.wustl.edu 37 13 20220922 20220922 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017520.3 +1 validated p.D237Y 1.000 151 0% 183 27.9% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MPHOSPH8 54737 genome.wustl.edu 37 13 20220987 20220987 + Silent SNP C C T rs45461394 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017520.3 +1 validated p.V258 0.002 241 0% 250 28% 9 11.1% - - - NULL PSPC1 55269 genome.wustl.edu 37 13 20251931 20251931 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_003272.1 -1 validated NULL 0.000 39 0% 30 26.7% 12 33.3% - - - - PSPC1 55269 genome.wustl.edu 37 13 20346537 20346537 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042414.1 -1 validated p.E173 0.874 123 0% 116 34.5% 28 28.5% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ZMYM5 9205 genome.wustl.edu 37 13 20412933 20412933 + Missense_Mutation SNP C C T rs143728763 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142684.1 -1 validated p.R260Q 1.000 374 0% 416 31% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-FCS,HMMSmart_SM00746 ZMYM2 7750 genome.wustl.edu 37 13 20610978 20610978 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003453.2 +1 validated p.E741* 1.000 62 0% 57 10.5% 15 0% - - - HMMPfam_zf-FCS,HMMSmart_TRASH ZMYM2 7750 genome.wustl.edu 37 13 20635277 20635277 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003453.2 +1 validated p.S942P 0.981 73 0% 56 48.2% 17 52.9% benign(0) tolerated(1) - NULL ZMYM2 7750 genome.wustl.edu 37 13 20657043 20657043 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003453.2 +1 validated p.T1231A 1.000 110 0% 112 31.2% 10 20% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL GJA3 2700 genome.wustl.edu 37 13 20717374 20717374 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021954.3 -1 reviewed p.S18 0.979 21 0% 25 48% 0 - - - - HMMPfam_Connexin GJB6 10804 genome.wustl.edu 37 13 20797024 20797024 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001110219.2 -1 reviewed p.S199Y 0.997 220 0% 206 34% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Connexin_CCC IFT88 8100 genome.wustl.edu 37 13 21175993 21175993 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175605.3 +1 reviewed p.R330Q 0.186 118 0% 93 24.7% 2 50% benign(0.01) tolerated(0.49) neutral(0.011) superfamily_TPR-like XPO4 64328 genome.wustl.edu 37 13 21381737 21381737 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022459.4 -1 validated p.P559L 1.000 91 0% 58 29.3% 6 100% possibly_damaging(0.832) tolerated(0.31) neutral(0.344) superfamily_ARM-type_fold XPO4 64328 genome.wustl.edu 37 13 21396401 21396401 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022459.4 -1 validated p.D290Y 1.000 139 0% 97 17.5% 5 20% probably_damaging(0.967) deleterious(0.01) deleterious(0.815) superfamily_ARM-type_fold LATS2 26524 genome.wustl.edu 37 13 21619894 21619894 + Missense_Mutation SNP G G A rs55842804 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014572.2 -1 reviewed p.S91L 0.955 122 0% 111 26.1% 1 0% benign(0.001) deleterious(0.01) neutral(0.406) NULL SKA3 221150 genome.wustl.edu 37 13 21734122 21734122 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000314759 -1 known p.A278 0.000 156 0% 144 24.3% 10 40% - - - NULL MRP63 78988 genome.wustl.edu 37 13 21751352 21751352 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024026.4 +1 reviewed p.K99N 1.000 37 0% 37 32.4% 288 41.3% possibly_damaging(0.937) deleterious(0.01) deleterious(0.788) NULL SGCG 6445 genome.wustl.edu 37 13 23777922 23777922 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000231.2 +1 reviewed p.G30D 1.000 177 0% 190 27.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sarcoglycan_1 SGCG 6445 genome.wustl.edu 37 13 23894874 23894874 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000231.2 +1 reviewed p.I226S 0.844 40 0% 31 19.4% 0 - possibly_damaging(0.804) deleterious(0) deleterious(0.747) HMMPfam_Sarcoglycan_1 SACS 26278 genome.wustl.edu 37 13 23905090 23905090 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014363.4 -1 reviewed p.E4309* 1.000 248 0% 182 29.1% 4 25% - - - superfamily_Chaperone J-domain SACS 26278 genome.wustl.edu 37 13 23909144 23909144 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014363.4 -1 reviewed p.K2957N 0.989 165 0% 146 30.8% 0 - possibly_damaging(0.545) tolerated(0.3) neutral(0.213) NULL SACS 26278 genome.wustl.edu 37 13 23909298 23909298 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014363.4 -1 reviewed p.R2906Q 0.991 88 0% 93 37.6% 1 100% probably_damaging(0.988) deleterious(0.02) deleterious(0.821) NULL SACS 26278 genome.wustl.edu 37 13 23910763 23910763 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014363.4 -1 reviewed p.E2418* 1.000 83 0% 72 23.6% 0 - - - - NULL SACS 26278 genome.wustl.edu 37 13 23910865 23910865 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014363.4 -1 reviewed p.E2384K 1.000 78 0% 64 26.6% 0 - probably_damaging(0.982) tolerated(0.42) neutral(0.441) NULL SACS 26278 genome.wustl.edu 37 13 23911432 23911432 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014363.4 -1 reviewed p.K2195Q 1.000 105 0% 67 26.9% 0 - probably_damaging(0.982) tolerated(0.11) deleterious(0.698) NULL SACS 26278 genome.wustl.edu 37 13 23912290 23912290 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014363.4 -1 reviewed p.N1909D 1.000 85 0% 96 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MIPEP 4285 genome.wustl.edu 37 13 24443523 24443523 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005932.2 -1 reviewed p.E284A 0.974 163 0% 113 21.2% 31 41.9% probably_damaging(0.991) tolerated(0.1) deleterious(0.730) HMMPfam_Peptidase_M3,superfamily_SSF55486 MIPEP 4285 genome.wustl.edu 37 13 24444223 24444223 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005932.2 -1 reviewed p.R239C 0.687 160 0% 99 21.2% 12 25% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_SSF55486 SPATA13 221178 genome.wustl.edu 37 13 24823618 24823618 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000424834 +1 known p.R590H 0.092 16 0% 13 61.5% 1 0% possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) NULL PARP4 143 genome.wustl.edu 37 13 25075900 25075900 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006437.3 -1 reviewed p.V69F 0.004 144 0% 129 29.5% 12 33.3% possibly_damaging(0.538) deleterious(0.01) deleterious(0.588) HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT ATP12A 479 genome.wustl.edu 37 13 25262634 25262634 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001676.5 +1 reviewed p.S136G 0.024 602 0% 580 27.1% 0 - benign(0.001) deleterious(0.05) neutral(0.345) superfamily_Calcium ATPase transmembrane domain M ATP12A 479 genome.wustl.edu 37 13 25283929 25283929 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001676.5 +1 reviewed p.Y909C 0.000 151 0% 144 31.9% 0 - benign(0.016) tolerated(0.16) neutral(0.060) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M RNF17 56163 genome.wustl.edu 37 13 25352514 25352514 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031277.2 +1 reviewed p.K133N 0.214 296 0% 276 31.5% 0 - benign(0.003) deleterious(0.01) neutral(0.406) NULL RNF17 56163 genome.wustl.edu 37 13 25353862 25353862 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031277.2 +1 reviewed p.E163K 1.000 127 0% 128 30.5% 0 - possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL RNF17 56163 genome.wustl.edu 37 13 25367210 25367210 + Silent SNP G G A rs140799195 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031277.2 +1 reviewed p.Q322 0.982 400 0.3% 334 28.1% 0 - - - - NULL RNF17 56163 genome.wustl.edu 37 13 25376591 25376591 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031277.2 +1 reviewed p.V611I 1.000 318 0% 223 36.8% 0 - probably_damaging(0.996) tolerated(0.39) deleterious(0.478) NULL RNF17 56163 genome.wustl.edu 37 13 25399880 25399880 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031277.2 +1 reviewed p.D739Y 1.000 206 0% 180 29.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00333,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT CENPJ 55835 genome.wustl.edu 37 13 25458195 25458195 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018451.3 -1 reviewed p.E1244* 1.000 160 0% 131 32.1% 2 0% - - - HMMPfam_Tcp10_C CENPJ 55835 genome.wustl.edu 37 13 25458546 25458546 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018451.3 -1 reviewed p.R1178Q 0.998 116 0% 107 38.3% 1 0% benign(0.024) tolerated(0.08) neutral(0.301) HMMPfam_Tcp10_C CENPJ 55835 genome.wustl.edu 37 13 25486770 25486770 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018451.3 -1 reviewed p.E132K 0.905 200 0% 150 31.3% 1 100% benign(0.141) deleterious(0.02) neutral(0.395) NULL MTMR6 9107 genome.wustl.edu 37 13 25826071 25826071 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000319298 -1 known p.E36* 0.974 397 0% 271 33.9% 7 71.4% - - - NULL ATP8A2 51761 genome.wustl.edu 37 13 26108321 26108321 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000381648 +1 known p.E130D 0.088 61 0% 52 40.4% 0 - possibly_damaging(0.647) tolerated(0.49) neutral(0.238) NULL ATP8A2 51761 genome.wustl.edu 37 13 26108340 26108340 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000381648 +1 known p.E137K 0.000 59 0% 52 28.8% 0 - benign(0.001) tolerated(0.68) neutral(0.002) NULL ATP8A2 51761 genome.wustl.edu 37 13 26153952 26153952 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016529.4 +1 validated p.R625Q 1.000 150 0% 122 41% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP8A2 51761 genome.wustl.edu 37 13 26163784 26163784 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016529.4 +1 validated p.R720* 0.312 144 0% 120 29.2% 0 - - - - superfamily_HAD-like ATP8A2 51761 genome.wustl.edu 37 13 26343277 26343277 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016529.4 +1 validated p.V826 0.786 79 0% 66 27.3% 0 - - - - superfamily_HAD-like GSX1 219409 genome.wustl.edu 37 13 28368023 28368023 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145657.1 +1 provisional p.E245K 1.000 44 0% 43 34.9% 0 - benign(0.028) deleterious(0.04) neutral(0.350) NULL POMP 51371 genome.wustl.edu 37 13 29246475 29246475 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015932.4 +1 validated e5-1 1.000 157 0% 146 23.3% 1 100% - - - - MTUS2 23281 genome.wustl.edu 37 13 29599633 29599633 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033602.2 +1 validated p.V276 0.000 87 0% 62 22.6% 0 - - - - NULL USPL1 10208 genome.wustl.edu 37 13 31195963 31195963 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005800.4 +1 validated p.K54N 0.899 250 0% 181 26% 4 25% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL USPL1 10208 genome.wustl.edu 37 13 31216843 31216843 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005800.4 +1 validated p.S354Y 0.994 335 0% 294 15.3% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL USPL1 10208 genome.wustl.edu 37 13 31231887 31231887 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005800.4 +1 validated p.R558H 0.000 198 0.5% 214 29.4% 5 80% benign(0.002) tolerated(0.14) neutral(0.249) NULL TEX26 122046 genome.wustl.edu 37 13 31543171 31543171 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152325.1 +1 predicted p.L266F 0.684 149 0% 148 16.2% 0 - benign(0.002) deleterious(0.02) neutral(0.383) NULL HSPH1 10808 genome.wustl.edu 37 13 31719765 31719765 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006644.2 -1 validated p.E507* 0.995 104 0% 98 35.7% 38 0% - - - HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain B3GALTL 145173 genome.wustl.edu 37 13 31843412 31843412 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194318.3 +1 reviewed p.E220* 1.000 110 0% 74 23% 4 0% - - - NULL RXFP2 122042 genome.wustl.edu 37 13 32313793 32313793 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130806.3 +1 reviewed p.L15S 0.000 184 0% 160 28.7% 0 - benign(0.383) deleterious(0) deleterious(0.567) NULL RXFP2 122042 genome.wustl.edu 37 13 32356834 32356834 + Silent SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130806.3 +1 reviewed p.I293 1.000 129 0% 127 40.2% 0 - - - - HMMSmart_SM00369,superfamily_L domain-like RXFP2 122042 genome.wustl.edu 37 13 32366121 32366121 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130806.3 +1 reviewed p.F442V 0.989 232 0% 196 25.5% 0 - benign(0.001) tolerated(0.63) neutral(0.004) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FRY 10129 genome.wustl.edu 37 13 32758786 32758786 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023037.2 +1 validated p.R1035Q 1.000 132 0% 128 32% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FRY 10129 genome.wustl.edu 37 13 32828498 32828498 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023037.2 +1 validated p.F2461 0.997 193 0% 209 34.9% 0 - - - - NULL FRY 10129 genome.wustl.edu 37 13 32839599 32839599 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023037.2 +1 validated p.R2598C 0.006 70 0% 78 29.5% 2 0% benign(0.037) deleterious(0.05) neutral(0.347) NULL BRCA2 675 genome.wustl.edu 37 13 32907425 32907425 + Nonsense_Mutation SNP A A T rs80358467 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000059.3 +1 reviewed p.K604* 0.445 129 0% 143 15.4% 0 - - - - NULL BRCA2 675 genome.wustl.edu 37 13 32920972 32920972 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000059.3 +1 reviewed p.K2316Q 0.992 54 0% 37 40.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL N4BP2L2 10443 genome.wustl.edu 37 13 33016731 33016731 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033111.3 -1 validated p.S648L 0.000 69 0% 80 31.2% 1 0% benign(0.002) tolerated(1) - NULL N4BP2L2 10443 genome.wustl.edu 37 13 33016755 33016755 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033111.3 -1 validated p.I640S 0.076 79 0% 81 40.7% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL N4BP2L2 10443 genome.wustl.edu 37 13 33016813 33016813 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033111.3 -1 validated p.E621K 0.001 83 0% 86 20.9% 2 50% benign(0.002) tolerated(0.78) neutral(0.001) NULL N4BP2L2 10443 genome.wustl.edu 37 13 33016949 33016949 + Nonsense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033111.3 -1 validated p.Y575* 0.173 71 0% 93 26.9% 0 - - - - NULL N4BP2L2 10443 genome.wustl.edu 37 13 33017475 33017475 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033111.3 -1 validated p.R400I 1.000 117 0% 125 28% 2 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PDS5B 23047 genome.wustl.edu 37 13 33258159 33258159 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015032.3 +1 reviewed p.R401Q 1.000 188 0% 178 30.3% 8 25% possibly_damaging(0.91) deleterious(0.01) deleterious(0.768) HMMPfam_HEAT,superfamily_ARM repeat PDS5B 23047 genome.wustl.edu 37 13 33275460 33275460 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015032.3 +1 reviewed p.R581C 1.000 81 0% 79 24.1% 5 0% probably_damaging(0.994) tolerated(0.07) deleterious(0.771) superfamily_ARM repeat PDS5B 23047 genome.wustl.edu 37 13 33327528 33327528 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015032.3 +1 reviewed p.R932H 1.000 342 0% 354 29.1% 12 66.6% probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_ARM repeat PDS5B 23047 genome.wustl.edu 37 13 33327578 33327578 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015032.3 +1 reviewed p.D949Y 1.000 269 0% 290 13.8% 12 8.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_ARM repeat STARD13 90627 genome.wustl.edu 37 13 33703873 33703873 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178006.3 -1 validated p.S314L 0.000 150 0% 175 29.1% 2 0% benign(0) tolerated(0.31) neutral(0.027) NULL RFC3 5983 genome.wustl.edu 37 13 34395333 34395333 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002915.3 +1 reviewed p.R51I 1.000 156 0% 118 28% 15 53.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases NBEA 26960 genome.wustl.edu 37 13 35692379 35692379 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015678.4 +1 validated p.K699 0.998 23 0% 20 45% 0 - - - - superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 35733260 35733260 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015678.4 +1 validated p.I984 0.997 236 0% 189 28.6% 0 - - - - superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 35751217 35751217 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015678.4 +1 validated p.R1547C 0.993 40 0% 34 20.6% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_ARM repeat MAB21L1 4081 genome.wustl.edu 37 13 36049739 36049739 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005584.4 -1 reviewed p.I179 1.000 56 0% 38 34.2% 0 - - - - HMMPfam_Mab-21 NBEA 26960 genome.wustl.edu 37 13 36124665 36124665 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015678.4 +1 validated p.R2213* 1.000 71 0% 72 23.6% 0 - - - - superfamily_ARM repeat,superfamily_PH domain-like NBEA 26960 genome.wustl.edu 37 13 36167505 36167505 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015678.4 +1 validated p.K2406T 1.000 255 0% 173 33.5% 0 - benign(0.327) deleterious(0) deleterious(0.547) HMMPfam_Beach,superfamily_BEACH domain,superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 36202322 36202322 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015678.4 +1 validated p.F2518L 0.984 66 0% 55 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like DCLK1 9201 genome.wustl.edu 37 13 36384991 36384991 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004734.3 -1 validated p.E557* 1.000 343 0% 234 32.5% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase DCLK1 9201 genome.wustl.edu 37 13 36396903 36396903 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004734.3 -1 validated p.N506S 1.000 171 0% 169 29.6% 0 - benign(0.004) tolerated(0.63) neutral(0.004) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SMAD9 4093 genome.wustl.edu 37 13 37453491 37453491 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127217.2 -1 reviewed p.C112* 1.000 61 0% 65 35.4% 0 - - - - HMMPfam_MH1,HMMSmart_SM00523,superfamily_SMAD MH1 domain ALG5 29880 genome.wustl.edu 37 13 37524129 37524129 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013338.4 -1 reviewed p.R309* 1.000 87 0% 91 30.8% 37 59.4% - - - NULL EXOSC8 11340 genome.wustl.edu 37 13 37582255 37582255 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181503.2 +1 reviewed p.K183N 1.000 138 0% 104 27.9% 31 9.6% benign(0.001) tolerated(0.35) neutral(0.021) NULL POSTN 10631 genome.wustl.edu 37 13 38144729 38144729 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006475.2 -1 validated p.R753* 1.000 163 0% 135 31.9% 240 0% - - - NULL POSTN 10631 genome.wustl.edu 37 13 38156504 38156504 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006475.2 -1 validated p.T464I 1.000 137 0% 119 25.2% 198 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain POSTN 10631 genome.wustl.edu 37 13 38162058 38162058 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006475.2 -1 validated p.M169I 1.000 98 0% 56 32.1% 135 0% probably_damaging(0.991) tolerated(0.13) deleterious(0.697) HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain TRPC4 7223 genome.wustl.edu 37 13 38266254 38266254 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003306.1 -1 validated p.S372 1.000 132 0% 108 29.6% 3 0% - - - NULL TRPC4 7223 genome.wustl.edu 37 13 38320491 38320491 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003306.1 -1 validated p.L160 0.228 259 0% 189 32.8% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK TRPC4 7223 genome.wustl.edu 37 13 38357448 38357448 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003306.1 -1 validated p.R8I 0.997 280 0% 249 27.3% 2 0% probably_damaging(0.972) deleterious(0) deleterious(0.859) superfamily_ANK FREM2 341640 genome.wustl.edu 37 13 39264573 39264573 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207361.4 +1 reviewed p.S1031Y 1.000 161 0% 117 24.8% 0 - benign(0.408) tolerated(1) neutral(0.132) NULL FREM2 341640 genome.wustl.edu 37 13 39265291 39265291 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207361.4 +1 reviewed p.S1270 0.504 287 0% 224 26.8% 0 - - - - NULL FREM2 341640 genome.wustl.edu 37 13 39266589 39266589 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207361.4 +1 reviewed p.A1703G 0.058 187 0% 172 35.5% 0 - benign(0) tolerated(0.49) neutral(0.011) NULL FREM2 341640 genome.wustl.edu 37 13 39338572 39338572 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207361.4 +1 reviewed p.E1799* 1.000 207 0% 156 33.3% 0 - - - - HMMPfam_Calx-beta,HMMSmart_SM00237 FREM2 341640 genome.wustl.edu 37 13 39448662 39448662 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207361.4 +1 reviewed p.R2740 0.028 178 0% 140 28.6% 0 - - - - NULL FREM2 341640 genome.wustl.edu 37 13 39450285 39450285 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207361.4 +1 reviewed p.A2803V 1.000 327 0% 258 20.9% 0 - possibly_damaging(0.92) deleterious(0.05) deleterious(0.716) NULL STOML3 161003 genome.wustl.edu 37 13 39542625 39542625 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145286.2 -1 validated p.R188Q 0.996 180 0% 135 26.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Band_7,HMMSmart_PHB,PatternScan_BAND_7 STOML3 161003 genome.wustl.edu 37 13 39550698 39550698 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145286.2 -1 validated p.A70T 1.000 88 0% 86 36% 0 - benign(0.001) tolerated(0.48) neutral(0.011) HMMPfam_Band_7,HMMSmart_PHB NHLRC3 387921 genome.wustl.edu 37 13 39613381 39613381 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012754.2 +1 validated p.C65G 1.000 62 0% 46 21.7% 7 14.2% benign(0) tolerated(0.25) neutral(0.037) superfamily_SSF101898 COG6 57511 genome.wustl.edu 37 13 40251610 40251610 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020751.2 +1 reviewed p.K145T 0.888 135 0% 126 31.7% 6 33.3% benign(0.001) tolerated(0.48) neutral(0.011) HMMPfam_COG6 FOXO1 2308 genome.wustl.edu 37 13 41134988 41134988 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002015.3 -1 reviewed p.R214C 1.000 142 0% 115 28.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fork_head,HMMSmart_FH,PatternScan_FORK_HEAD_2,superfamily_SSF46785 MRPS31 10240 genome.wustl.edu 37 13 41345246 41345246 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005830.3 -1 reviewed p.L9 0.000 59 0% 66 34.8% 16 56.2% - - - NULL ELF1 1997 genome.wustl.edu 37 13 41515415 41515415 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172373.3 -1 reviewed p.N300H 1.000 396 0% 307 31.6% 15 40% benign(0.159) deleterious(0) neutral(0.459) superfamily_SSF46785 ELF1 1997 genome.wustl.edu 37 13 41533092 41533092 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172373.3 -1 reviewed p.L45F 1.000 105 0% 105 10.5% 23 4.3% probably_damaging(0.992) tolerated(0.15) deleterious(0.689) NULL WBP4 11193 genome.wustl.edu 37 13 41642768 41642768 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007187.3 +1 reviewed p.E112* 1.000 118 0% 110 29.1% 8 0% - - - NULL ENSG00000247476 0 genome.wustl.edu 37 13 41766274 41766274 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000501885 +1 novel NULL 0.001 108 0% 73 28.8% 2 0% - - - - KIAA0564 23078 genome.wustl.edu 37 13 42461407 42461407 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015058.1 -1 validated p.Y248H 1.000 136 0% 123 35% 4 25% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DGKH 160851 genome.wustl.edu 37 13 42763187 42763187 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178009.2 +1 reviewed p.E552* 1.000 180 0% 118 21.2% 0 - - - - NULL AKAP11 11215 genome.wustl.edu 37 13 42877168 42877168 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016248.2 +1 reviewed p.R1429I 0.059 194 0% 184 32.6% 4 25% possibly_damaging(0.906) tolerated(0.11) deleterious(0.631) NULL AKAP11 11215 genome.wustl.edu 37 13 42882603 42882603 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016248.2 +1 reviewed p.E1711* 1.000 212 0% 182 30.2% 4 0% - - - NULL TNFSF11 8600 genome.wustl.edu 37 13 43155284 43155284 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003701.3 +1 reviewed p.E81G 1.000 148 0% 105 31.4% 3 0% benign(0.105) deleterious(0.02) neutral(0.391) NULL ENOX1 55068 genome.wustl.edu 37 13 43896593 43896593 + Silent SNP G G A rs185833367 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127615.1 -1 validated p.R396 0.233 94 0% 98 27.6% 1 0% - - - NULL ENOX1 55068 genome.wustl.edu 37 13 43986183 43986183 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127615.1 -1 validated p.D26A 1.000 111 0% 86 31.4% 2 0% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL CCDC122 160857 genome.wustl.edu 37 13 44433939 44433939 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144974.3 -1 validated p.V142I 0.024 501 0% 368 12.2% 2 0% benign(0.01) tolerated(0.76) neutral(0.002) NULL ZC3H13 23091 genome.wustl.edu 37 13 46542094 46542094 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015070.3 -1 validated p.R1289I 1.000 430 0% 368 35.3% 12 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ZC3H13 23091 genome.wustl.edu 37 13 46554134 46554134 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015070.3 -1 validated p.R576* 1.000 160 0% 138 28.3% 8 12.5% - - - NULL LRCH1 23143 genome.wustl.edu 37 13 47243166 47243166 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015116.2 +1 reviewed p.R152* 1.000 267 0% 287 30.7% 8 0% - - - HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like LRCH1 23143 genome.wustl.edu 37 13 47263285 47263285 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015116.2 +1 reviewed p.S323L 1.000 281 0% 236 25.4% 8 87.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRCH1 23143 genome.wustl.edu 37 13 47269155 47269155 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000258643 +1 known p.A416 0.999 270 0% 228 29.8% 0 - - - - NULL LRCH1 23143 genome.wustl.edu 37 13 47308114 47308114 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015116.2 +1 reviewed p.R654Q 1.000 118 0% 81 32.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain HTR2A 3356 genome.wustl.edu 37 13 47409725 47409725 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000621.3 -1 reviewed p.V221 1.000 167 0% 139 28.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ITM2B 9445 genome.wustl.edu 37 13 48833071 48833071 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021999.4 +1 reviewed p.E235* 1.000 148 0% 112 30.4% 791 32.6% - - - NULL RB1 5925 genome.wustl.edu 37 13 48937047 48937047 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000321.2 +1 reviewed p.R272I 1.000 237 0% 206 26.2% 10 30% possibly_damaging(0.942) tolerated(0.06) deleterious(0.710) NULL CDADC1 81602 genome.wustl.edu 37 13 49841907 49841907 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030911.2 +1 validated p.E238* 1.000 127 0% 127 32.3% 2 0% - - - NULL SETDB2 83852 genome.wustl.edu 37 13 50056948 50056948 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031915.2 +1 validated p.K423T 0.936 80 0% 62 25.8% 5 20% possibly_damaging(0.916) tolerated(0.16) neutral(0.426) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain PHF11 51131 genome.wustl.edu 37 13 50080832 50080832 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040443.1 +1 validated p.V52 0.021 78 0% 77 40.3% 15 46.6% - - - NULL RCBTB1 55213 genome.wustl.edu 37 13 50115896 50115896 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018191.3 -1 reviewed p.D414N 1.000 78 0% 83 32.5% 7 28.5% benign(0.004) tolerated(0.25) neutral(0.037) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB KPNA3 3839 genome.wustl.edu 37 13 50306552 50306552 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002267.3 -1 reviewed p.S113Y 1.000 197 0% 156 25% 6 16.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat FAM124A 220108 genome.wustl.edu 37 13 51855035 51855035 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145019.2 +1 predicted p.V464 0.996 94 0% 82 24.4% 7 14.2% - - - NULL CCDC70 83446 genome.wustl.edu 37 13 52439800 52439800 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031290.2 +1 validated p.E96* 0.380 352 0% 297 33.7% 0 - - - - NULL ALG11 440138 genome.wustl.edu 37 13 52598639 52598639 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004127.1 +1 provisional p.S258Y 1.000 145 0% 145 30.3% 4 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53756 ALG11 440138 genome.wustl.edu 37 13 52598996 52598996 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004127.1 +1 provisional p.P377Q 1.000 166 0% 173 34.1% 13 30.7% possibly_damaging(0.899) tolerated(0.09) deleterious(0.652) HMMPfam_Glycos_transf_1,superfamily_SSF53756 NEK5 341676 genome.wustl.edu 37 13 52667348 52667348 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199289.1 -1 provisional p.K350N 0.433 132 0% 140 31.4% 0 - benign(0.004) deleterious(0) neutral(0.445) NULL NEK3 4752 genome.wustl.edu 37 13 52728046 52728046 + Nonsense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000258597 -1 known p.L98* 1.000 160 0% 108 31.5% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase THSD1 55901 genome.wustl.edu 37 13 52971994 52971994 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018676.3 -1 reviewed p.V132I 0.027 134 0% 131 32.1% 0 - benign(0.002) tolerated(1) - NULL SUGT1 10910 genome.wustl.edu 37 13 53241027 53241027 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130912.1 +1 reviewed p.Q232 1.000 127 0% 109 27.5% 69 40.5% - - - superfamily_HSP20-like chaperones,HMMPfam_CS PCDH17 27253 genome.wustl.edu 37 13 58207200 58207200 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040429.2 +1 reviewed p.D174N 1.000 24 0% 16 37.5% 0 - probably_damaging(0.981) tolerated(1) neutral(0.425) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH17 27253 genome.wustl.edu 37 13 58208702 58208702 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040429.2 +1 reviewed p.S674 0.003 31 0% 29 37.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DIAPH3 81624 genome.wustl.edu 37 13 60240874 60240874 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042517.1 -1 validated p.T1142 0.952 353 0% 301 33.9% 6 66.6% - - - NULL DIAPH3 81624 genome.wustl.edu 37 13 60453488 60453488 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042517.1 -1 validated p.E828K 1.000 128 0% 95 30.5% 1 100% probably_damaging(0.989) tolerated(0.09) deleterious(0.736) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) DIAPH3 81624 genome.wustl.edu 37 13 60498959 60498959 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042517.1 -1 validated p.K707T 1.000 182 0% 144 30.6% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) DIAPH3 81624 genome.wustl.edu 37 13 60545030 60545030 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042517.1 -1 validated p.E639* 1.000 90 0% 59 45.8% 2 0% - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) TDRD3 81550 genome.wustl.edu 37 13 61102575 61102575 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030794.2 +1 validated p.D313Y 1.000 208 0% 155 31.6% 10 20% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) NULL LOC390407 390407 genome.wustl.edu 37 13 61211535 61211535 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_078475.1 -1 model NULL 1.000 85 0% 95 31.6% 0 - - - - - PCDH20 64881 genome.wustl.edu 37 13 61987520 61987520 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022843.3 -1 validated p.D238Y 1.000 204 0% 189 35.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH9 5101 genome.wustl.edu 37 13 67205403 67205403 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203487.2 -1 reviewed p.F1093L 1.000 101 0% 69 27.5% 0 - possibly_damaging(0.836) tolerated(0.44) neutral(0.332) NULL PCDH9 5101 genome.wustl.edu 37 13 67799652 67799652 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203487.2 -1 reviewed p.V974A 1.000 139 0% 87 33.3% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Protocadherin PCDH9 5101 genome.wustl.edu 37 13 67800839 67800839 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203487.2 -1 reviewed p.Q578H 0.991 263 0% 189 39.2% 0 - possibly_damaging(0.949) deleterious(0.02) deleterious(0.776) HMMPfam_Cadherin,superfamily_Cadherin-like PCDH9 5101 genome.wustl.edu 37 13 67801444 67801444 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203487.2 -1 reviewed p.D377Y 1.000 240 0% 185 28.6% 0 - probably_damaging(0.98) deleterious(0.02) deleterious(0.807) HMMPfam_Cadherin,superfamily_Cadherin-like KLHL1 57626 genome.wustl.edu 37 13 70456597 70456597 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020866.2 -1 validated p.E349* 1.000 122 0% 106 30.2% 0 - - - - HMMPfam_BACK DIS3 22894 genome.wustl.edu 37 13 73345072 73345072 + Silent SNP C C T rs182902184 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014953.3 -1 validated p.T575 0.004 110 0% 70 27.1% 12 8.3% - - - HMMPfam_RNB DIS3 22894 genome.wustl.edu 37 13 73347916 73347916 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014953.3 -1 validated p.R382Q 1.000 186 0% 114 36.8% 9 22.2% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL DIS3 22894 genome.wustl.edu 37 13 73352346 73352346 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014953.3 -1 validated p.E187* 1.000 52 0% 24 16.7% 2 0% - - - superfamily_PIN domain-like KLF5 688 genome.wustl.edu 37 13 73636180 73636180 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001730.3 +1 reviewed p.T148N 1.000 177 0% 193 30.1% 52 44.2% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL KLF12 11278 genome.wustl.edu 37 13 74420001 74420001 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007249.4 -1 validated p.V211 0.986 140 0% 115 39.1% 0 - - - - NULL KLF12 11278 genome.wustl.edu 37 13 74420218 74420218 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007249.4 -1 validated p.S139L 1.000 90 0% 105 27.6% 1 0% benign(0.001) tolerated(0.65) neutral(0.003) NULL TBC1D4 9882 genome.wustl.edu 37 13 75861011 75861011 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014832.2 -1 validated p.D1272N 1.000 165 0% 137 27% 4 0% benign(0.001) tolerated(0.87) neutral(0.001) NULL TBC1D4 9882 genome.wustl.edu 37 13 75886878 75886878 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014832.2 -1 validated p.Q793 0.995 82 0% 68 22.1% 2 0% - - - NULL LMO7 4008 genome.wustl.edu 37 13 76374965 76374965 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005358.5 +1 reviewed p.S255L 0.993 383 0% 324 27.2% 15 20% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL LMO7 4008 genome.wustl.edu 37 13 76378602 76378602 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015842.2 +1 reviewed p.K47T 1.000 226 0% 222 30.6% 13 15.3% possibly_damaging(0.837) deleterious(0) deleterious(0.764) NULL CLN5 1203 genome.wustl.edu 37 13 77574896 77574896 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006493.2 +1 reviewed p.R339I 0.010 172 0% 127 25.2% 35 42.8% benign(0.025) deleterious(0.04) neutral(0.350) NULL MYCBP2 23077 genome.wustl.edu 37 13 77629697 77629697 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015057.4 -1 validated p.R4510I 1.000 115 0% 106 27.4% 6 0% benign(0.002) deleterious(0.05) neutral(0.345) NULL MYCBP2 23077 genome.wustl.edu 37 13 77714205 77714205 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015057.4 -1 validated p.G2461* 1.000 86 0% 65 35.4% 1 0% - - - NULL SCEL 8796 genome.wustl.edu 37 13 78171684 78171684 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144777.2 +1 validated p.E253* 0.997 51 0% 54 20.4% 5 0% - - - NULL SCEL 8796 genome.wustl.edu 37 13 78176802 78176802 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144777.2 +1 validated p.E331K 0.000 293 0% 215 26.5% 1 0% benign(0.001) tolerated(0.38) neutral(0.018) NULL EDNRB 1910 genome.wustl.edu 37 13 78475215 78475215 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000115.2 -1 reviewed p.A310D 1.000 205 0% 175 32% 2 0% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RNF219 79596 genome.wustl.edu 37 13 79191011 79191011 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024546.3 -1 validated p.G295 0.319 101 0% 138 27.5% 12 33.3% - - - NULL RNF219 79596 genome.wustl.edu 37 13 79219089 79219089 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024546.3 -1 validated p.S39L 1.000 207 0% 188 27.7% 6 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C3HC4,superfamily_RING/U-box SLITRK6 84189 genome.wustl.edu 37 13 86368951 86368951 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032229.2 -1 validated p.L565I 1.000 146 0% 153 25.5% 0 - possibly_damaging(0.485) tolerated(0.49) neutral(0.172) HMMSmart_SM00082,superfamily_L domain-like SLITRK6 84189 genome.wustl.edu 37 13 86369645 86369645 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032229.2 -1 validated p.C333W 0.989 170 0% 177 22.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like SLITRK6 84189 genome.wustl.edu 37 13 86370276 86370276 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032229.2 -1 validated p.S123Y 0.998 233 0% 263 27.4% 0 - possibly_damaging(0.819) deleterious(0.01) deleterious(0.715) HMMSmart_SM00369,superfamily_L domain-like SLITRK6 84189 genome.wustl.edu 37 13 86370628 86370628 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032229.2 -1 validated p.H6N 0.852 160 0% 162 22.8% 0 - benign(0) tolerated(0.25) neutral(0.037) NULL SLITRK5 26050 genome.wustl.edu 37 13 88329437 88329437 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015567.1 +1 validated p.F598 1.000 226 0% 203 30% 0 - - - - HMMSmart_SM00082,superfamily_L domain-like SLITRK5 26050 genome.wustl.edu 37 13 88329975 88329975 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015567.1 +1 validated p.D778Y 1.000 48 0% 49 22.4% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL MIR18A 406953 genome.wustl.edu 37 13 92003032 92003032 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000362310 +1 known NULL 1.000 114 0% 97 15.5% 0 - - - - - GPC5 2262 genome.wustl.edu 37 13 92345789 92345789 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004466.4 +1 reviewed p.F225S 0.995 65 0% 59 30.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glypican GPC6 10082 genome.wustl.edu 37 13 94938627 94938627 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005708.3 +1 reviewed p.R301Q 1.000 81 0% 78 41% 2 0% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_Glypican DCT 1638 genome.wustl.edu 37 13 95092216 95092216 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001129889.1 -1 validated p.R532Q 0.305 165 0% 114 27.2% 0 - benign(0.222) tolerated(0.2) neutral(0.071) NULL DCT 1638 genome.wustl.edu 37 13 95092217 95092217 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001129889.1 -1 validated p.R532* 0.313 166 0% 115 25.2% 0 - - - - NULL GPR180 160897 genome.wustl.edu 37 13 95271420 95271420 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_180989.4 +1 reviewed p.F174L 1.000 186 0% 144 29.2% 11 90.9% benign(0.203) tolerated(0.3) neutral(0.048) HMMPfam_GpcrRhopsn4 SOX21 11166 genome.wustl.edu 37 13 95364028 95364028 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007084.2 -1 validated p.F92 1.000 43 0% 12 33.3% 0 - - - - NULL ABCC4 10257 genome.wustl.edu 37 13 95723929 95723929 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005845.3 -1 reviewed p.K1066T 0.993 395 0% 494 31.8% 2 0% benign(0.001) tolerated(0.08) neutral(0.300) superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC4 10257 genome.wustl.edu 37 13 95887049 95887049 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005845.3 -1 reviewed p.I116V 0.847 98 0% 78 37.2% 0 - benign(0) tolerated(0.11) neutral(0.272) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain DZIP1 22873 genome.wustl.edu 37 13 96239909 96239909 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198968.2 -1 validated p.L701R 0.424 159 0% 103 23.3% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL UGGT2 55757 genome.wustl.edu 37 13 96635834 96635834 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000376714 -1 known p.L250I 0.001 29 0% 24 20.8% 0 - - - - NULL UGGT2 55757 genome.wustl.edu 37 13 96665587 96665587 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020121.3 -1 validated p.L212M 0.944 134 0% 100 28% 10 50% benign(0.062) tolerated(0.13) neutral(0.257) NULL OXGR1 27199 genome.wustl.edu 37 13 97639045 97639045 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080818.3 -1 reviewed p.G323 0.000 296 0% 226 13.7% 0 - - - - superfamily_Family A G protein-coupled receptor-like IPO5 3843 genome.wustl.edu 37 13 98654812 98654812 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000469360 +1 known p.S402L 0.709 139 0% 118 31.4% 23 47.8% - - - HMMPfam_HEAT,superfamily_ARM repeat FARP1 10160 genome.wustl.edu 37 13 99064220 99064220 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000457029 +1 known p.R115Q 0.280 184 0% 186 24.7% 90 41.1% - - - HMMPfam_RhoGEF,superfamily_DBL homology domain (DH-domain) DOCK9 23348 genome.wustl.edu 37 13 99515753 99515753 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130049.1 -1 validated p.F1113L 1.000 315 0% 262 33.2% 4 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL DOCK9 23348 genome.wustl.edu 37 13 99554638 99554638 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130049.1 -1 validated p.L429 0.565 46 0% 58 27.6% 1 0% - - - NULL DOCK9 23348 genome.wustl.edu 37 13 99554656 99554656 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130049.1 -1 validated p.F423L 0.895 45 0% 61 24.6% 1 0% benign(0.017) tolerated(0.19) neutral(0.050) NULL GPR183 1880 genome.wustl.edu 37 13 99947820 99947820 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004951.4 -1 reviewed p.P194S 0.998 160 0% 145 25.5% 0 - possibly_damaging(0.612) tolerated(0.94) neutral(0.212) HMMPfam_7tm_1,superfamily_SSF81321 TM9SF2 9375 genome.wustl.edu 37 13 100188896 100188896 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004800.1 +1 provisional p.D166N 1.000 146 0% 101 29.7% 78 33.3% possibly_damaging(0.899) tolerated(0.35) neutral(0.377) HMMPfam_EMP70 CLYBL 171425 genome.wustl.edu 37 13 100517169 100517169 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000416504 +1 known p.V130G 0.008 143 0% 141 22.7% 0 - benign(0.003) deleterious(0) neutral(0.445) superfamily_Pyrv/PenolPyrv_Kinase_cat CLYBL 171425 genome.wustl.edu 37 13 100523296 100523296 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000339105 +1 known p.E303* 1.000 288 0% 243 31.3% 2 0% - - - NULL TMTC4 84899 genome.wustl.edu 37 13 101277906 101277906 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032813.2 -1 validated p.M573I 1.000 82 0% 53 17% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TMTC4 84899 genome.wustl.edu 37 13 101308638 101308638 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032813.2 -1 validated p.E213* 1.000 72 0% 68 19.1% 8 25% - - - NULL NALCN 259232 genome.wustl.edu 37 13 101710371 101710371 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052867.2 -1 validated p.S1648L 1.000 136 0% 122 34.4% 0 - benign(0) deleterious(0) neutral(0.445) NULL NALCN 259232 genome.wustl.edu 37 13 101714357 101714357 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052867.2 -1 validated p.R1573H 1.000 91 0% 107 37.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NALCN 259232 genome.wustl.edu 37 13 101733921 101733921 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052867.2 -1 validated p.T1281M 1.000 216 0% 152 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NALCN 259232 genome.wustl.edu 37 13 101757268 101757268 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052867.2 -1 validated p.K871N 1.000 123 0% 105 26.7% 0 - benign(0) tolerated(0.19) neutral(0.050) superfamily_Voltage-gated potassium channels NALCN 259232 genome.wustl.edu 37 13 101890181 101890181 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052867.2 -1 validated p.F453 1.000 264 0% 195 39% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NALCN 259232 genome.wustl.edu 37 13 101997750 101997750 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052867.2 -1 validated p.L222 1.000 284 0.4% 226 30.1% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ITGBL1 9358 genome.wustl.edu 37 13 102359119 102359119 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004791.1 +1 provisional p.C382 0.920 141 0% 154 28.6% 4 0% - - - HMMPfam_EGF_2,PatternScan_INTEGRIN_BETA,superfamily_SSF57196 TPP2 7174 genome.wustl.edu 37 13 103295683 103295683 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003291.2 +1 reviewed p.S711Y 1.000 95 0% 72 36.1% 3 33.3% possibly_damaging(0.795) deleterious(0.02) deleterious(0.681) NULL ERCC5 2073 genome.wustl.edu 37 13 103518248 103518248 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000123.2 +1 reviewed p.Q729R 1.000 109 0% 77 32.5% 4 25% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) superfamily_PIN domain-like ERCC5 2073 genome.wustl.edu 37 13 103524701 103524701 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000123.2 +1 reviewed p.S944 0.051 197 0% 164 28.7% 16 31.2% - - - superfamily_5' to 3' exonuclease C-terminal subdomain DAOA 267012 genome.wustl.edu 37 13 106142296 106142296 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172370.3 +1 reviewed p.N110H 0.001 66 0% 56 30.4% 0 - possibly_damaging(0.765) deleterious(0) deleterious(0.728) NULL LIG4 3981 genome.wustl.edu 37 13 108861233 108861233 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098268.1 -1 reviewed p.L795R 0.720 104 0% 119 30.3% 0 - benign(0.002) tolerated(0.15) neutral(0.241) NULL LIG4 3981 genome.wustl.edu 37 13 108863105 108863105 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098268.1 -1 reviewed p.L171R 1.000 100 0% 87 25.3% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DNA_ligase_A_N ABHD13 84945 genome.wustl.edu 37 13 108882320 108882320 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032859.2 +1 validated p.K252Q 1.000 169 0% 145 27.6% 20 45% benign(0.03) deleterious(0.04) neutral(0.350) superfamily_alpha/beta-Hydrolases TNFSF13B 10673 genome.wustl.edu 37 13 108955899 108955899 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006573.3 +1 reviewed p.R231Q 1.000 181 0.6% 147 27.2% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TNF,superfamily_TNF-like MYO16 23026 genome.wustl.edu 37 13 109318424 109318424 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015011.1 +1 validated p.A51 0.001 93 0% 96 43.8% 0 - - - - superfamily_Ankyrin repeat MYO16 23026 genome.wustl.edu 37 13 109614805 109614805 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015011.1 +1 validated p.L708S 0.135 108 0% 91 24.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases COL4A1 1282 genome.wustl.edu 37 13 110822910 110822910 + Silent SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001845.4 -1 reviewed p.G1242 0.670 30 0% 27 22.2% 140 0% - - - HMMPfam_Collagen COL4A2 1284 genome.wustl.edu 37 13 111160440 111160440 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001846.2 +1 reviewed p.P1585T 1.000 59 0% 42 35.7% 333 0.3% possibly_damaging(0.865) tolerated(0.24) neutral(0.372) HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold COL4A2 1284 genome.wustl.edu 37 13 111164352 111164352 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001846.2 +1 reviewed p.R1651 0.963 47 0% 37 10.8% 389 0.5% - - - HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold ING1 3621 genome.wustl.edu 37 13 111371744 111371744 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005537.3 +1 reviewed p.R245H 1.000 13 0% 16 31.2% 11 36.3% benign(0.033) deleterious(0.01) neutral(0.407) NULL ARHGEF7 8874 genome.wustl.edu 37 13 111929939 111929939 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113511.1 +1 reviewed p.K496N 1.000 117 0% 83 15.7% 11 45.4% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARHGEF7 8874 genome.wustl.edu 37 13 111955399 111955399 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113513.1 +1 reviewed p.K627T 1.000 75 0% 54 42.6% 11 27.2% benign(0.003) deleterious(0.02) neutral(0.383) NULL TUBGCP3 10426 genome.wustl.edu 37 13 113174284 113174284 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006322.4 -1 provisional p.G599 0.610 144 0% 139 26.6% 10 40% - - - HMMPfam_Spc97_Spc98 ATP11A 23250 genome.wustl.edu 37 13 113478715 113478715 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032189.3 +1 reviewed p.S283F 1.000 103 0% 91 18.7% 3 33.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_Calcium ATPase transmembrane domain M F10 2159 genome.wustl.edu 37 13 113798205 113798205 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000418726 +1 known p.R58K 0.008 41 0% 25 28% 0 - - - - NULL TMCO3 55002 genome.wustl.edu 37 13 114164588 114164588 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017905.4 +1 validated p.M358I 1.000 97 0% 93 14% 10 0% benign(0.024) tolerated(0.44) neutral(0.014) HMMPfam_Na_H_Exchanger POTEG 404785 genome.wustl.edu 37 14 19566015 19566015 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005356.2 +1 validated p.I353M 0.000 357 0% 249 9.6% 0 - possibly_damaging(0.827) deleterious(0.03) deleterious(0.678) HMMSmart_SM00248,superfamily_Ankyrin repeat ENSG00000226518 0 genome.wustl.edu 37 14 20085467 20085467 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000422907 +1 known p.T23 0.995 122 0% 121 14% 0 - - - - NULL OR11H2 79334 genome.wustl.edu 37 14 20181301 20181301 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000334072 -1 known p.H259N 1.000 412 0% 458 40.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4N2 390429 genome.wustl.edu 37 14 20295616 20295616 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004723.1 +1 provisional p.S3 0.000 520 0.2% 502 29.5% 0 - - - - superfamily_SSF81321 OR4N2 390429 genome.wustl.edu 37 14 20296351 20296351 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004723.1 +1 provisional p.F248L 0.099 345 0% 320 28.1% 0 - benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_7tm_1,superfamily_SSF81321 OR4N2 390429 genome.wustl.edu 37 14 20296475 20296475 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004723.1 +1 provisional p.R290C 0.601 190 0% 166 31.3% 0 - benign(0.233) deleterious(0.01) neutral(0.429) superfamily_SSF81321 OR4K1 79544 genome.wustl.edu 37 14 20404405 20404405 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004063.2 +1 validated p.E194* 0.000 151 0% 128 32.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4L1 122742 genome.wustl.edu 37 14 20528903 20528903 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004717.1 +1 provisional p.S234T 0.000 216 0% 201 28.9% 0 - benign(0) tolerated(0.06) neutral(0.323) HMMPfam_7tm_1,superfamily_SSF81321 TEP1 7011 genome.wustl.edu 37 14 20846234 20846234 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007110.4 -1 reviewed p.A1890 0.026 145 0% 127 30.7% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TEP1 7011 genome.wustl.edu 37 14 20873623 20873623 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007110.4 -1 reviewed p.E286A 1.000 449 0.2% 352 14.8% 0 - unknown(0) deleterious(0) - HMMPfam_TROVE TMEM55B 90809 genome.wustl.edu 37 14 20928903 20928903 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100814.1 -1 validated p.I89L 0.997 70 0% 68 33.8% 26 26.9% benign(0.393) deleterious(0.02) deleterious(0.509) HMMPfam_Tmemb_55A RNASE4 6038 genome.wustl.edu 37 14 21167775 21167775 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002937.3 +1 reviewed p.R82H 0.001 418 0.5% 438 30.1% 6 0% benign(0.001) tolerated(0.1) neutral(0.286) HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like EDDM3A 10876 genome.wustl.edu 37 14 21215869 21215869 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006683.4 +1 validated p.E44* 0.014 164 0% 142 33.1% 0 - - - - superfamily_RNaseA ENSG00000246096 0 genome.wustl.edu 37 14 21464260 21464260 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000500338 -1 known NULL 0.000 274 0% 318 35.5% 1 0% - - - - RPGRIP1 57096 genome.wustl.edu 37 14 21789496 21789496 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020366.3 +1 reviewed p.T516P 0.683 218 0% 165 38.2% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL SUPT16H 11198 genome.wustl.edu 37 14 21840162 21840162 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007192.3 -1 reviewed p.V67 1.000 98 0% 119 25.2% 15 33.3% - - - NULL CHD8 57680 genome.wustl.edu 37 14 21896124 21896124 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020920.3 -1 reviewed p.R223H 1.000 218 0% 166 30.1% 2 0% probably_damaging(0.98) tolerated(0.11) deleterious(0.696) NULL RAB2B 84932 genome.wustl.edu 37 14 21943026 21943026 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000431740 -1 known p.R12Q 1.000 74 0% 67 28.4% 0 - - - - HMMPfam_Ras,superfamily_SSF52540 TOX4 9878 genome.wustl.edu 37 14 21956841 21956841 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014828.2 +1 validated p.G137 0.954 152 0% 155 29% 33 36.3% - - - NULL SALL2 6297 genome.wustl.edu 37 14 21991122 21991122 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005407.1 -1 validated p.E914K 1.000 119 0% 126 27.8% 2 50% benign(0.074) tolerated(0.09) neutral(0.301) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR4E2 26686 genome.wustl.edu 37 14 22133805 22133805 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001912.1 +1 validated p.G170D 0.999 290 0% 258 29.8% 0 - possibly_damaging(0.639) deleterious(0) deleterious(0.668) HMMPfam_7tm_1,superfamily_SSF81321 DAD1 1603 genome.wustl.edu 37 14 23057900 23057900 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001344.2 -1 reviewed p.S55Y 1.000 161 0% 121 24.8% 545 39.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_DAD ABHD4 63874 genome.wustl.edu 37 14 23078709 23078709 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022060.2 +1 validated p.R278* 1.000 102 1% 90 25.6% 10 0% - - - HMMPfam_Abhydrolase_1,superfamily_SSF53474 SLC7A7 9056 genome.wustl.edu 37 14 23248127 23248127 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001126105.1 -1 reviewed p.E215D 1.000 158 0% 145 35.2% 18 0% benign(0.011) tolerated(0.25) neutral(0.037) HMMPfam_AA_permease C14orf93 60686 genome.wustl.edu 37 14 23467895 23467895 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130706.1 -1 validated p.E113G 0.022 104 0% 98 37.8% 5 40% benign(0.042) tolerated(0.06) neutral(0.325) NULL PSMB11 122706 genome.wustl.edu 37 14 23512080 23512080 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099780.1 +1 validated p.D216Y 1.000 39 0% 48 29.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Proteasome,superfamily_SSF56235 CEBPE 1053 genome.wustl.edu 37 14 23586892 23586892 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001805.2 -1 reviewed p.A217V 1.000 86 0% 72 20.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_BRLZ,HMMPfam_bZIP_2 SLC22A17 51310 genome.wustl.edu 37 14 23816824 23816824 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020372.2 -1 provisional p.F354S 1.000 39 0% 31 29% 15 0% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_MFS_1,superfamily_MFS general substrate transporter CMTM5 116173 genome.wustl.edu 37 14 23847691 23847691 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138460.2 +1 reviewed p.R87Q 0.971 210 0% 167 32.3% 0 - probably_damaging(0.994) tolerated(0.29) deleterious(0.481) HMMPfam_MARVEL MYH6 4624 genome.wustl.edu 37 14 23851654 23851654 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002471.3 -1 validated p.R1927C 1.000 108 0% 119 31.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 MYH6 4624 genome.wustl.edu 37 14 23867951 23867951 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002471.3 -1 validated p.A626V 1.000 54 0% 55 25.5% 0 - benign(0.017) tolerated(0.61) neutral(0.005) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases JPH4 84502 genome.wustl.edu 37 14 24041119 24041119 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032452.2 -1 reviewed p.A388T 0.999 176 0% 187 32.1% 0 - possibly_damaging(0.93) deleterious(0) deleterious(0.821) NULL LRRC16B 90668 genome.wustl.edu 37 14 24529254 24529254 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138360.3 +1 validated p.T648 0.136 59 0% 36 36.1% 0 - - - - NULL PSME2 5721 genome.wustl.edu 37 14 24614958 24614958 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002818.2 -1 reviewed p.F35L 0.970 49 0% 46 21.7% 308 38.9% benign(0.311) tolerated(0.28) neutral(0.129) HMMPfam_PA28_alpha,superfamily_Prot_act_regA RNF31 55072 genome.wustl.edu 37 14 24617318 24617318 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017999.4 +1 validated p.V109A 1.000 63 0% 65 20% 10 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PUB IRF9 10379 genome.wustl.edu 37 14 24631382 24631382 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006084.4 +1 validated p.R10Q 1.000 217 0% 174 27.6% 24 20.8% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_IRF,HMMSmart_IRF IPO4 79711 genome.wustl.edu 37 14 24649767 24649767 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024658.3 -1 validated p.A1043T 0.004 22 0% 23 21.7% 130 43.8% benign(0) tolerated(0.4) neutral(0.016) NULL RIPK3 11035 genome.wustl.edu 37 14 24808508 24808508 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006871.3 -1 reviewed p.K62E 0.626 147 0% 169 24.3% 1 0% benign(0.019) tolerated(0.85) neutral(0.002) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NYNRIN 57523 genome.wustl.edu 37 14 24877485 24877485 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025081.2 +1 validated p.I203 0.864 72 0% 60 25% 2 100% - - - NULL NYNRIN 57523 genome.wustl.edu 37 14 24878867 24878867 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025081.2 +1 validated p.K623E 0.001 67 0% 55 27.3% 5 0% benign(0.007) deleterious(0.01) neutral(0.406) NULL NYNRIN 57523 genome.wustl.edu 37 14 24879270 24879270 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025081.2 +1 validated p.R757H 0.001 76 0% 58 27.6% 4 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL NYNRIN 57523 genome.wustl.edu 37 14 24883907 24883907 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025081.2 +1 validated p.E984 0.250 61 0% 57 26.3% 9 44.4% - - - NULL KHNYN 23351 genome.wustl.edu 37 14 24900727 24900727 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015299.2 +1 validated p.K87R 0.014 76 0% 53 20.8% 11 36.3% benign(0.003) tolerated(0.57) neutral(0.006) NULL GZMB 3002 genome.wustl.edu 37 14 25101153 25101153 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004131.4 -1 reviewed p.R171* 0.000 176 0% 126 35.7% 49 0% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases STXBP6 29091 genome.wustl.edu 37 14 25288250 25288250 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014178.6 -1 provisional p.A201V 1.000 281 0% 200 15.5% 62 17.7% probably_damaging(1) tolerated(0.23) deleterious(0.541) NULL STXBP6 29091 genome.wustl.edu 37 14 25326244 25326244 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014178.6 -1 provisional p.D92N 0.997 289 0% 237 27.4% 67 40.2% benign(0.082) tolerated(0.2) neutral(0.055) NULL FOXG1 2290 genome.wustl.edu 37 14 29237598 29237598 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005249.3 +1 reviewed p.E371D 1.000 43 0% 37 37.8% 0 - benign(0.001) tolerated(0.26) neutral(0.034) NULL FOXG1 2290 genome.wustl.edu 37 14 29237757 29237757 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005249.3 +1 reviewed p.P424 1.000 40 0% 46 10.9% 0 - - - - NULL G2E3 55632 genome.wustl.edu 37 14 31074877 31074877 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017769.3 +1 validated p.A393P 0.036 77 0% 97 35.1% 2 50% benign(0.038) tolerated(0.23) neutral(0.044) superfamily_HECT ENSG00000250370 0 genome.wustl.edu 37 14 31358704 31358704 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000503907 -1 known NULL 0.007 33 3% 35 25.7% 0 - - - - - HECTD1 25831 genome.wustl.edu 37 14 31602757 31602757 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015382.2 -1 validated p.E1235K 1.000 148 0% 127 31.5% 8 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Galactose-binding domain-like,HMMPfam_Sad1_UNC HECTD1 25831 genome.wustl.edu 37 14 31618360 31618360 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015382.2 -1 validated p.R721Q 1.000 71 0% 66 28.8% 5 80% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat HEATR5A 25938 genome.wustl.edu 37 14 31844080 31844080 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015473.2 -1 validated p.S308 0.062 79 0% 70 40% 3 0% - - - superfamily_ARM repeat NUBPL 80224 genome.wustl.edu 37 14 32034245 32034245 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025152.2 +1 validated p.A94 0.415 144 0% 74 25.7% 1 100% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ARHGAP5 394 genome.wustl.edu 37 14 32560274 32560274 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001030055.1 +1 reviewed p.I133M 1.000 192 0% 195 35.9% 2 0% possibly_damaging(0.558) deleterious(0.01) deleterious(0.596) HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ARHGAP5 394 genome.wustl.edu 37 14 32562634 32562634 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001030055.1 +1 reviewed p.S920F 1.000 228 0% 215 31.6% 12 16.6% benign(0.361) deleterious(0.01) deleterious(0.520) NULL ARHGAP5 394 genome.wustl.edu 37 14 32562938 32562938 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001030055.1 +1 reviewed p.I1021M 1.000 286 0% 308 37.3% 3 33.3% benign(0.016) tolerated(0.05) neutral(0.346) NULL AKAP6 9472 genome.wustl.edu 37 14 33068648 33068648 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004274.4 +1 reviewed p.A834 1.000 186 0% 166 27.7% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat AKAP6 9472 genome.wustl.edu 37 14 33293435 33293435 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004274.4 +1 reviewed p.L2139P 0.000 216 0% 195 32.3% 0 - benign(0) tolerated(0.51) neutral(0.009) NULL EAPP 55837 genome.wustl.edu 37 14 35002731 35002731 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018453.3 -1 reviewed p.N91H 0.971 200 0% 192 24% 41 43.9% benign(0) tolerated(0.19) neutral(0.050) NULL CFL2 1073 genome.wustl.edu 37 14 35182678 35182678 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021914.7 -1 reviewed p.K31N 1.000 91 0% 99 32.3% 5 20% possibly_damaging(0.793) deleterious(0) deleterious(0.742) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins BAZ1A 11177 genome.wustl.edu 37 14 35245200 35245200 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013448.2 -1 validated p.E920K 1.000 135 0% 143 32.2% 3 66.6% probably_damaging(0.996) tolerated(0.24) deleterious(0.499) NULL BAZ1A 11177 genome.wustl.edu 37 14 35245464 35245464 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013448.2 -1 validated p.L832I 1.000 198 0% 167 35.3% 6 16.6% probably_damaging(0.999) tolerated(0.5) deleterious(0.500) NULL BAZ1A 11177 genome.wustl.edu 37 14 35331346 35331346 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013448.2 -1 validated p.S99L 1.000 377 0% 363 14.6% 3 33.3% possibly_damaging(0.556) tolerated(0.12) neutral(0.450) HMMPfam_WAC_Acf1_DNA_bd RALGAPA1 253959 genome.wustl.edu 37 14 36207825 36207825 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194301.2 -1 provisional p.R494Q 1.000 346 0% 282 31.9% 2 100% possibly_damaging(0.902) tolerated(0.12) deleterious(0.617) NULL MBIP 51562 genome.wustl.edu 37 14 36777365 36777365 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016586.2 -1 validated p.R274I 1.000 384 0% 254 17.7% 36 13.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000188831 0 genome.wustl.edu 37 14 36840940 36840940 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000340350 +1 known p.R108C 0.001 262 0% 208 32.2% 0 - - - - NULL TTC6 319089 genome.wustl.edu 37 14 38277971 38277971 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343299.1 +1 model p.A1225T 0.847 420 0% 303 28.4% 0 - possibly_damaging(0.639) deleterious(0.02) deleterious(0.607) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like SSTR1 6751 genome.wustl.edu 37 14 38678947 38678947 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001049.2 +1 reviewed p.T118M 0.984 157 0% 143 26.6% 0 - possibly_damaging(0.892) tolerated(0.22) neutral(0.393) HMMPfam_7tm_1,superfamily_SSF81321 CLEC14A 161198 genome.wustl.edu 37 14 38724135 38724135 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175060.1 -1 provisional p.E365K 0.000 113 0% 64 18.8% 14 0% benign(0) tolerated(0.65) neutral(0.003) NULL CLEC14A 161198 genome.wustl.edu 37 14 38724258 38724258 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175060.1 -1 provisional p.D324N 0.000 135 0% 70 21.4% 15 0% benign(0.006) tolerated(0.97) - NULL CLEC14A 161198 genome.wustl.edu 37 14 38724544 38724544 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175060.1 -1 provisional p.A228 0.004 140 0% 71 22.5% 8 0% - - - NULL SEC23A 10484 genome.wustl.edu 37 14 39543712 39543712 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006364.2 -1 reviewed p.R337Q 1.000 252 0% 228 32% 17 23.5% probably_damaging(0.998) tolerated(0.3) deleterious(0.503) HMMPfam_Sec23_trunk,superfamily_SSF53300,superfamily_SSF81995 SEC23A 10484 genome.wustl.edu 37 14 39565307 39565307 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006364.2 -1 reviewed p.E6K 1.000 139 0% 168 31.5% 6 33.3% possibly_damaging(0.568) deleterious(0.01) deleterious(0.600) NULL TRAPPC6B 122553 genome.wustl.edu 37 14 39627569 39627569 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079537.1 -1 validated p.D63Y 1.000 119 0% 96 30.2% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TRAPP PNN 5411 genome.wustl.edu 37 14 39650142 39650142 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002687.3 +1 validated p.R410Q 1.000 176 0% 164 29.3% 27 37% benign(0.002) tolerated(0.62) neutral(0.004) NULL LRFN5 145581 genome.wustl.edu 37 14 42356018 42356018 + Missense_Mutation SNP A A G rs185649544 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152447.3 +1 validated p.T64A 1.000 73 0% 78 21.8% 0 - probably_damaging(0.966) tolerated(0.68) neutral(0.410) superfamily_SSF52058 LRFN5 145581 genome.wustl.edu 37 14 42360923 42360923 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152447.3 +1 validated p.S619N 1.000 98 0% 81 24.7% 0 - benign(0.042) tolerated(0.07) neutral(0.322) NULL FSCB 84075 genome.wustl.edu 37 14 44974442 44974442 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032135.3 -1 validated p.E583 0.004 104 0% 61 9.8% 0 - - - - NULL FSCB 84075 genome.wustl.edu 37 14 44974786 44974786 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032135.3 -1 validated p.E469* 0.990 70 0% 69 29% 0 - - - - NULL KLHL28 54813 genome.wustl.edu 37 14 45414967 45414967 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017658.3 -1 validated p.S55 1.000 136 0% 179 29.1% 2 0% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB FAM179B 23116 genome.wustl.edu 37 14 45465037 45465037 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015091.2 +1 validated p.R712I 1.000 76 0% 60 10% 0 - possibly_damaging(0.628) deleterious(0) deleterious(0.663) superfamily_ARM repeat FAM179B 23116 genome.wustl.edu 37 14 45542618 45542618 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015091.2 +1 validated p.N1673H 1.000 85 0% 82 20.7% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL PRPF39 55015 genome.wustl.edu 37 14 45579845 45579845 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017922.3 +1 validated p.R466Q 1.000 26 0% 16 37.5% 15 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like FANCM 57697 genome.wustl.edu 37 14 45645098 45645098 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020937.2 +1 reviewed p.Q1047H 0.039 88 0% 99 35.4% 0 - possibly_damaging(0.824) deleterious(0) deleterious(0.756) NULL FANCM 57697 genome.wustl.edu 37 14 45658176 45658176 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020937.2 +1 reviewed p.E1651* 0.137 199 0% 166 27.7% 5 0% - - - NULL FANCM 57697 genome.wustl.edu 37 14 45667995 45667995 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020937.2 +1 reviewed p.K1955N 1.000 227 0% 165 25.5% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Restriction endonuclease-like MIS18BP1 55320 genome.wustl.edu 37 14 45716349 45716349 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018353.4 -1 validated p.K47N 1.000 156 0% 99 27.3% 2 0% benign(0.399) deleterious(0) deleterious(0.573) NULL RPL10L 140801 genome.wustl.edu 37 14 47120881 47120881 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080746.2 -1 reviewed p.S20Y 1.000 114 0% 94 35.1% 0 - benign(0.313) deleterious(0) deleterious(0.542) HMMPfam_Ribosomal_L16,superfamily_Ribosomal_L10e/L16 LOC100289583 100289583 genome.wustl.edu 37 14 47120968 47120968 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343274.1 +1 model p.R213Q 0.000 58 0% 60 48.3% 0 - - - - NULL MDGA2 161357 genome.wustl.edu 37 14 47566317 47566317 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113498.1 -1 validated p.S243* 1.000 286 0.3% 181 25.4% 0 - - - - superfamily_SSF48726 LRR1 122769 genome.wustl.edu 37 14 50080985 50080985 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152329.3 +1 reviewed p.G339A 0.999 96 0% 97 25.8% 30 40% benign(0.016) tolerated(0.73) neutral(0.002) NULL DNAAF2 55172 genome.wustl.edu 37 14 50092460 50092460 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018139.2 -1 reviewed p.E772K 0.075 122 0% 74 16.2% 24 25% possibly_damaging(0.796) deleterious(0) deleterious(0.744) NULL DNAAF2 55172 genome.wustl.edu 37 14 50100274 50100274 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018139.2 -1 reviewed p.E532* 0.666 40 0% 33 48.5% 23 39.1% - - - NULL POLE2 5427 genome.wustl.edu 37 14 50118023 50118023 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002692.2 -1 provisional p.V428 1.000 55 0% 49 36.7% 9 66.6% - - - HMMPfam_DNA_pol_E_B C14orf182 283551 genome.wustl.edu 37 14 50459558 50459558 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012706.1 -1 validated p.L80 0.000 73 0% 55 23.6% 0 - - - - NULL SOS2 6655 genome.wustl.edu 37 14 50611982 50611982 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006939.2 -1 validated p.Q858R 1.000 152 0% 133 37.6% 1 0% possibly_damaging(0.949) tolerated(0.07) deleterious(0.712) HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF SOS2 6655 genome.wustl.edu 37 14 50612229 50612229 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006939.2 -1 validated p.R824C 1.000 105 0% 120 25.8% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF SOS2 6655 genome.wustl.edu 37 14 50626281 50626281 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006939.2 -1 validated p.R574S 1.000 261 0% 212 36.8% 5 0% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) superfamily_Ras_GEF SOS2 6655 genome.wustl.edu 37 14 50626742 50626742 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006939.2 -1 validated p.M420T 1.000 294 0% 214 34.6% 2 0% benign(0.002) tolerated(0.05) neutral(0.345) superfamily_SSF50729 L2HGDH 79944 genome.wustl.edu 37 14 50713876 50713876 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024884.2 -1 reviewed p.R431H 0.984 98 0% 88 30.7% 5 60% possibly_damaging(0.736) tolerated(0.1) deleterious(0.555) HMMPfam_DAO CDKL1 8814 genome.wustl.edu 37 14 50809647 50809647 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356146 -1 known p.T786A 1.000 43 0% 38 23.7% 0 - - - - superfamily_Kinase_like CDKL1 8814 genome.wustl.edu 37 14 50845126 50845126 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356146 -1 known p.P375S 0.001 88 0% 61 31.1% 0 - - - - NULL ATL1 51062 genome.wustl.edu 37 14 51099045 51099045 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015915.4 +1 reviewed p.K555N 1.000 95 0% 70 30% 11 27.2% unknown(0) tolerated(0.32) - NULL NIN 51199 genome.wustl.edu 37 14 51224712 51224712 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020921.3 -1 reviewed p.I1012 1.000 271 0.4% 295 32.9% 0 - - - - NULL TRIM9 114088 genome.wustl.edu 37 14 51477173 51477173 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015163.5 -1 reviewed p.R361C 1.000 210 0% 168 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00502 TRIM9 114088 genome.wustl.edu 37 14 51561052 51561052 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015163.5 -1 reviewed p.G202 0.029 33 0% 28 28.6% 0 - - - - HMMSmart_SM00336 FRMD6 122786 genome.wustl.edu 37 14 52156616 52156616 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042481.1 +1 validated p.F21S 1.000 59 0% 71 32.4% 2 0% probably_damaging(0.985) tolerated(0.07) deleterious(0.751) HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 C14orf166 51637 genome.wustl.edu 37 14 52460480 52460480 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016039.2 +1 validated p.R76* 1.000 80 0% 85 29.4% 102 4.9% - - - HMMPfam_RLL NID2 22795 genome.wustl.edu 37 14 52521022 52521022 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007361.3 -1 validated p.I262S 0.060 136 0% 99 22.2% 17 0% benign(0.061) tolerated(0.54) neutral(0.011) HMMPfam_NIDO,HMMSmart_SM00539 PTGDR 5729 genome.wustl.edu 37 14 52735205 52735205 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000953.2 +1 reviewed p.L225I 1.000 52 0% 36 33.3% 0 - possibly_damaging(0.864) tolerated(0.09) deleterious(0.631) HMMPfam_7tm_1,superfamily_SSF81321 PSMC6 5706 genome.wustl.edu 37 14 53175535 53175535 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002806.3 +1 reviewed e4+1 1.000 106 0% 102 23.5% 0 - - - - - FERMT2 10979 genome.wustl.edu 37 14 53417216 53417216 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134999.1 -1 validated p.V24A 1.000 90 0% 60 43.3% 14 21.4% possibly_damaging(0.866) deleterious(0) deleterious(0.780) NULL SAMD4A 23034 genome.wustl.edu 37 14 55168990 55168990 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015589.4 +1 validated p.S135L 1.000 114 0.9% 112 31.2% 7 85.7% benign(0.123) tolerated(0.11) neutral(0.282) NULL LGALS3 3958 genome.wustl.edu 37 14 55612068 55612068 + RNA SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_003225.2 +1 reviewed NULL 0.076 61 0% 61 18% 501 25.7% - - - - DLGAP5 9787 genome.wustl.edu 37 14 55636262 55636262 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014750.4 -1 validated p.R468H 1.000 146 0% 125 24.8% 19 47.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GKAP DLGAP5 9787 genome.wustl.edu 37 14 55646413 55646413 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014750.4 -1 validated p.N236 0.957 109 0% 88 26.1% 14 14.2% - - - NULL KTN1 3895 genome.wustl.edu 37 14 56128290 56128290 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079521.1 +1 validated p.S1017Y 0.191 140 0% 116 28.4% 60 40% probably_damaging(0.985) deleterious(0.02) deleterious(0.815) NULL EXOC5 10640 genome.wustl.edu 37 14 57675417 57675417 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006544.3 -1 reviewed p.Q679 1.000 231 0% 188 32.4% 35 40% - - - HMMPfam_Sec10 MUDENG 55745 genome.wustl.edu 37 14 57741091 57741091 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018229.3 +1 validated p.F68 0.018 76 0% 87 24.1% 17 41.1% - - - NULL C14orf37 145407 genome.wustl.edu 37 14 58471797 58471797 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001872.2 -1 predicted p.R742M 1.000 167 0% 123 38.2% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C14orf37 145407 genome.wustl.edu 37 14 58604792 58604792 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001872.2 -1 predicted p.D429N 0.000 149 0% 155 30.3% 0 - benign(0) tolerated(0.98) - NULL PSMA3 5684 genome.wustl.edu 37 14 58737155 58737155 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002788.2 +1 reviewed p.E204K 1.000 144 0% 145 31% 221 37.5% benign(0.009) deleterious(0) neutral(0.445) HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) ARID4A 5926 genome.wustl.edu 37 14 58795016 58795016 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002892.3 +1 reviewed p.S215* 1.000 123 0% 80 26.3% 0 - - - - HMMPfam_RBB1NT ARID4A 5926 genome.wustl.edu 37 14 58796297 58796297 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002892.3 +1 reviewed p.P238 0.600 136 0% 92 28.3% 1 0% - - - HMMPfam_RBB1NT TOMM20L 387990 genome.wustl.edu 37 14 58874094 58874094 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207377.2 +1 validated p.E105K 0.828 118 0% 105 26.7% 1 0% benign(0.011) deleterious(0.03) neutral(0.365) HMMPfam_MAS20,superfamily_MAS20_rcpt DACT1 51339 genome.wustl.edu 37 14 59112000 59112000 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016651.5 +1 validated p.K220T 0.989 107 0% 74 28.4% 1 0% benign(0.001) tolerated(0.55) neutral(0.007) NULL DACT1 51339 genome.wustl.edu 37 14 59112525 59112525 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016651.5 +1 validated p.S395L 0.861 118 0% 86 33.7% 7 0% benign(0.167) deleterious(0.01) neutral(0.421) NULL DACT1 51339 genome.wustl.edu 37 14 59112997 59112997 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016651.5 +1 validated p.A552 0.007 79 0% 54 29.6% 5 0% - - - NULL DAAM1 23002 genome.wustl.edu 37 14 59827539 59827539 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014992.1 +1 reviewed p.E895* 1.000 135 0% 108 26.9% 6 0% - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) JKAMP 51528 genome.wustl.edu 37 14 59961845 59961845 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016475.3 +1 validated p.R121* 1.000 115 0% 89 28.1% 24 16.6% - - - HMMPfam_DUF766 JKAMP 51528 genome.wustl.edu 37 14 59970624 59970624 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016475.3 +1 validated p.H257R 1.000 266 0% 161 29.2% 24 4.1% possibly_damaging(0.9) deleterious(0.04) deleterious(0.706) HMMPfam_DUF766 C14orf135 64430 genome.wustl.edu 37 14 60592519 60592519 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022495.5 +1 validated p.S848F 1.000 71 0% 48 31.2% 11 27.2% possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_Pecanex_C C14orf39 317761 genome.wustl.edu 37 14 60936271 60936271 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174978.2 -1 validated p.E219* 1.000 78 0% 56 23.2% 0 - - - - NULL SIX1 6495 genome.wustl.edu 37 14 61113285 61113285 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005982.3 -1 reviewed p.E191K 1.000 52 0% 34 47.1% 5 40% benign(0.35) deleterious(0) deleterious(0.555) superfamily_Homeodomain-like SIX4 51804 genome.wustl.edu 37 14 61190738 61190738 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017420.4 -1 reviewed p.E19* 1.000 122 0% 127 22% 0 - - - - NULL TRMT5 57570 genome.wustl.edu 37 14 61446356 61446356 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020810.2 -1 validated p.R87I 1.000 252 0% 202 30.2% 17 23.5% possibly_damaging(0.934) deleterious(0) deleterious(0.825) NULL PRKCH 5583 genome.wustl.edu 37 14 61917577 61917577 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006255.3 +1 reviewed p.F240 0.983 311 0.6% 322 25.5% 2 0% - - - superfamily_Cysteine-rich domain PRKCH 5583 genome.wustl.edu 37 14 61952330 61952330 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006255.3 +1 reviewed p.I463 1.000 336 0% 244 31.6% 2 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HIF1A 3091 genome.wustl.edu 37 14 62207257 62207257 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001530.3 +1 validated p.D524G 1.000 115 0.9% 114 36.8% 62 37% possibly_damaging(0.857) deleterious(0.01) deleterious(0.737) NULL HIF1A 3091 genome.wustl.edu 37 14 62207545 62207545 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001530.3 +1 validated p.D578N 0.999 232 0% 228 33.8% 100 39% possibly_damaging(0.461) tolerated(0.66) neutral(0.153) NULL SYT16 83851 genome.wustl.edu 37 14 62462909 62462909 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031914.2 +1 validated p.D58Y 0.909 494 0% 444 32% 0 - probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL SYT16 83851 genome.wustl.edu 37 14 62536533 62536533 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031914.2 +1 validated p.D246Y 1.000 189 0% 234 27.4% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL KCNH5 27133 genome.wustl.edu 37 14 63174573 63174573 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139318.3 -1 reviewed p.R874C 1.000 162 0% 163 31.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KCNH5 27133 genome.wustl.edu 37 14 63447706 63447706 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139318.3 -1 reviewed p.E276K 1.000 235 0% 170 27.6% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels RHOJ 57381 genome.wustl.edu 37 14 63747757 63747757 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020663.3 +1 provisional p.V102 0.749 197 0% 135 32.6% 3 0% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RHOJ 57381 genome.wustl.edu 37 14 63757598 63757598 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020663.3 +1 provisional p.I167 0.003 133 0% 110 26.4% 2 0% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SYNE2 23224 genome.wustl.edu 37 14 64679609 64679609 + Silent SNP C C T rs146572710 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182914.2 +1 reviewed p.S6314 0.957 91 0% 80 21.2% 14 42.8% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin ZBTB25 7597 genome.wustl.edu 37 14 64953667 64953667 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006977.2 -1 validated p.N428H 1.000 88 0% 85 30.6% 2 0% benign(0.057) tolerated(0.1) neutral(0.290) NULL LOC100287214 100287214 genome.wustl.edu 37 14 65008428 65008428 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343281.1 -1 model p.D256N 1.000 11 0% 15 26.7% 21 33.3% - - - HMMPfam_NAD-GH PPP1R36 145376 genome.wustl.edu 37 14 65056030 65056030 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172365.1 +1 predicted p.S415A 0.000 164 0% 160 26.9% 1 0% benign(0.009) tolerated(0.28) neutral(0.032) NULL SPTB 6710 genome.wustl.edu 37 14 65253410 65253410 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001024858.2 -1 reviewed p.E1091D 0.972 53 0% 49 14.3% 1 0% benign(0) tolerated(0.34) neutral(0.023) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTB 6710 genome.wustl.edu 37 14 65262201 65262201 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001024858.2 -1 reviewed p.T500A 0.935 87 0% 81 27.2% 2 0% benign(0.004) tolerated(0.84) neutral(0.001) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTB 6710 genome.wustl.edu 37 14 65267519 65267519 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001024858.2 -1 reviewed p.F277L 1.000 97 0% 70 28.6% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_CH,superfamily_Calponin-homology RAB15 376267 genome.wustl.edu 37 14 65415099 65415099 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000436278 -1 known p.A204 0.009 50 0% 60 45% 6 33.3% - - - HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases GPHN 10243 genome.wustl.edu 37 14 67525414 67525414 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020806.4 +1 reviewed p.S352Y 1.000 351 0% 294 23.5% 6 16.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_MoeA_N GPHN 10243 genome.wustl.edu 37 14 67631930 67631930 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020806.4 +1 reviewed p.I654 0.997 90 0% 96 32.3% 13 53.8% - - - HMMPfam_MoCF_biosynth,superfamily_MoCF_biosynth GPHN 10243 genome.wustl.edu 37 14 67647618 67647618 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020806.4 +1 reviewed p.G758 1.000 63 0% 36 25% 11 0% - - - HMMPfam_MoeA_C,superfamily_MoeA_C MPP5 64398 genome.wustl.edu 37 14 67769220 67769220 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022474.2 +1 validated p.D299N 1.000 224 0% 142 23.2% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PIGH 5283 genome.wustl.edu 37 14 68060665 68060665 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004569.3 -1 reviewed p.S62I 1.000 21 0% 37 24.3% 11 54.5% probably_damaging(0.979) tolerated(0.14) deleterious(0.671) NULL RDH12 145226 genome.wustl.edu 37 14 68200518 68200518 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152443.2 +1 reviewed p.R302C 1.000 71 0% 63 31.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ZFYVE26 23503 genome.wustl.edu 37 14 68264796 68264796 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015346.3 -1 reviewed p.R728Q 0.981 141 0% 108 27.8% 4 0% benign(0.006) tolerated(0.28) neutral(0.032) NULL ZFYVE26 23503 genome.wustl.edu 37 14 68280704 68280704 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015346.3 -1 reviewed p.K91T 1.000 87 0% 70 31.4% 0 - possibly_damaging(0.811) deleterious(0) deleterious(0.750) NULL RAD51B 5890 genome.wustl.edu 37 14 69117548 69117548 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390683 +1 known p.E363* 0.049 46 0% 28 21.4% 0 - - - - NULL ACTN1 87 genome.wustl.edu 37 14 69376040 69376040 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130004.1 -1 reviewed p.R197W 1.000 96 0% 59 30.5% 201 26.3% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology EXD2 55218 genome.wustl.edu 37 14 69707797 69707797 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018199.2 +1 provisional p.L491I 0.997 80 0% 90 38.9% 12 25% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL SRSF5 6430 genome.wustl.edu 37 14 70235375 70235375 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039465.1 +1 validated p.E61* 1.000 110 0% 117 29.1% 74 0% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SMOC1 64093 genome.wustl.edu 37 14 70444659 70444659 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001034852.1 +1 validated p.S168N 1.000 199 0% 176 31.8% 0 - benign(0.017) tolerated(0.41) neutral(0.015) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72128059 72128059 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015556.1 +1 provisional p.I710 0.710 127 0% 101 27.7% 12 25% - - - HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) RGS6 9628 genome.wustl.edu 37 14 72936746 72936746 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004296.4 +1 validated p.A164V 1.000 134 0% 105 29.5% 0 - possibly_damaging(0.659) tolerated(0.06) deleterious(0.555) NULL RGS6 9628 genome.wustl.edu 37 14 72944991 72944991 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004296.4 +1 validated p.A270T 0.806 89 0% 61 29.5% 0 - benign(0) tolerated(0.58) neutral(0.005) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain RGS6 9628 genome.wustl.edu 37 14 72985208 72985208 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004296.4 +1 validated p.V414G 1.000 134 0% 104 30.8% 0 - possibly_damaging(0.935) deleterious(0) deleterious(0.825) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS RGS6 9628 genome.wustl.edu 37 14 73007307 73007307 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000406236 +1 known p.R345W 0.000 28 0% 23 17.4% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL DPF3 8110 genome.wustl.edu 37 14 73141066 73141066 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012074.3 -1 provisional p.G251 1.000 23 0% 12 41.7% 0 - - - - NULL DPF3 8110 genome.wustl.edu 37 14 73238525 73238525 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012074.3 -1 provisional p.V37M 1.000 140 0% 94 33% 0 - benign(0.194) tolerated(0.25) neutral(0.055) NULL DCAF4 26094 genome.wustl.edu 37 14 73409754 73409754 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015604.3 +1 reviewed p.R162* 1.000 79 0% 59 27.1% 1 100% - - - superfamily_WD40 repeat-like RBM25 58517 genome.wustl.edu 37 14 73572736 73572736 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021239.2 +1 validated p.E442K 1.000 570 0.2% 663 30.5% 15 60% unknown(0) deleterious(0) - NULL PAPLN 89932 genome.wustl.edu 37 14 73717620 73717620 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173462.3 +1 validated p.V157 0.494 56 0% 33 15.2% 0 - - - - NULL NUMB 8650 genome.wustl.edu 37 14 73789885 73789885 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005743.1 -1 reviewed p.S52P 1.000 112 0% 80 28.7% 14 28.5% probably_damaging(0.985) tolerated(0.1) deleterious(0.718) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like ALDH6A1 4329 genome.wustl.edu 37 14 74538608 74538608 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005589.2 -1 reviewed p.R140* 1.000 210 0% 183 27.3% 1 0% - - - HMMPfam_Aldedh,superfamily_ALDH-like VRTN 55237 genome.wustl.edu 37 14 74823858 74823858 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018228.2 +1 validated p.I124 0.838 54 0% 43 27.9% 0 - - - - NULL SYNDIG1L 646658 genome.wustl.edu 37 14 74874676 74874676 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105579.1 -1 validated p.T145M 0.858 50 0% 37 32.4% 1 100% possibly_damaging(0.884) deleterious(0) deleterious(0.789) HMMPfam_CD225 YLPM1 56252 genome.wustl.edu 37 14 75265172 75265172 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019589.2 +1 validated p.R1058W 0.074 237 0% 222 28.4% 11 81.8% possibly_damaging(0.702) deleterious(0) deleterious(0.697) NULL YLPM1 56252 genome.wustl.edu 37 14 75266120 75266120 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019589.2 +1 validated p.R1374* 1.000 676 0.3% 800 31.8% 10 0% - - - NULL YLPM1 56252 genome.wustl.edu 37 14 75282961 75282961 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019589.2 +1 validated p.L1853R 1.000 47 0% 46 41.3% 24 87.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_P-loop containing nucleoside triphosphate hydrolases PROX2 283571 genome.wustl.edu 37 14 75321889 75321889 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080408.1 -1 provisional p.S575 0.984 29 0% 26 30.8% 0 - - - - HMMPfam_Prox1,superfamily_Homeodomain-like PROX2 283571 genome.wustl.edu 37 14 75327925 75327925 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080408.1 -1 provisional p.L434V 0.008 150 0% 141 34% 0 - benign(0) tolerated(1) - HMMPfam_Prox1 PROX2 283571 genome.wustl.edu 37 14 75330524 75330524 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080408.1 -1 provisional p.S5F 0.000 75 0% 102 20.6% 0 - possibly_damaging(0.922) deleterious(0.02) deleterious(0.754) NULL DLST 1743 genome.wustl.edu 37 14 75360102 75360102 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001933.4 +1 validated p.G216D 1.000 135 0% 128 32% 62 40.3% benign(0.212) tolerated(0.62) neutral(0.025) NULL DLST 1743 genome.wustl.edu 37 14 75365141 75365141 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001933.4 +1 validated p.F280L 1.000 87 0% 68 36.8% 46 21.7% benign(0) tolerated(0.18) neutral(0.056) HMMPfam_2-oxoacid_dh,superfamily_CoA-dependent acyltransferases MLH3 27030 genome.wustl.edu 37 14 75505093 75505093 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040108.1 -1 reviewed p.K1198T 1.000 158 0% 132 31.1% 9 55.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MLH3 27030 genome.wustl.edu 37 14 75514896 75514896 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040108.1 -1 reviewed p.K488T 0.472 185 0% 186 30.6% 1 100% unknown(0) deleterious(0) - NULL NEK9 91754 genome.wustl.edu 37 14 75551344 75551344 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033116.4 -1 validated p.E955K 1.000 206 0% 157 36.3% 16 43.7% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL ENSG00000119660 0 genome.wustl.edu 37 14 75759024 75759024 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000238638 -1 known p.A63T 0.000 41 0% 52 21.2% 0 - possibly_damaging(0.677) deleterious(0.04) deleterious(0.590) NULL FLVCR2 55640 genome.wustl.edu 37 14 76088433 76088433 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017791.2 +1 validated p.A227 0.003 402 0.2% 461 31.9% 1 0% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter IFT43 112752 genome.wustl.edu 37 14 76542976 76542976 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052873.2 +1 validated p.N84 0.000 97 0% 115 42.6% 0 - - - - NULL C14orf118 55668 genome.wustl.edu 37 14 76620936 76620936 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017926.2 +1 validated p.R77Q 1.000 100 0% 115 24.3% 5 20% probably_damaging(0.987) deleterious(0.05) deleterious(0.782) NULL C14orf118 55668 genome.wustl.edu 37 14 76621107 76621107 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017926.2 +1 validated p.R134Q 1.000 84 0% 98 31.6% 4 50% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL C14orf118 55668 genome.wustl.edu 37 14 76644267 76644267 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017972.2 +1 validated p.R362Q 1.000 148 0% 122 25.4% 0 - benign(0) tolerated(0.09) neutral(0.296) NULL C14orf118 55668 genome.wustl.edu 37 14 76644365 76644365 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017926.2 +1 validated p.I363V 1.000 124 0% 108 32.4% 6 66.6% benign(0.001) tolerated(0.4) neutral(0.016) NULL ANGEL1 23357 genome.wustl.edu 37 14 77275857 77275857 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015305.3 -1 validated p.R65Q 1.000 74 1.4% 73 30.1% 4 0% possibly_damaging(0.938) tolerated(0.18) neutral(0.440) NULL C14orf166B 145497 genome.wustl.edu 37 14 77292853 77292853 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194287.2 +1 validated p.F5 0.003 16 0% 14 35.7% 0 - - - - NULL C14orf166B 145497 genome.wustl.edu 37 14 77294701 77294701 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194287.2 +1 validated p.P52 0.000 79 0% 76 30.3% 0 - - - - NULL C14orf166B 145497 genome.wustl.edu 37 14 77311207 77311207 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194287.2 +1 validated p.F230L 1.000 33 0% 30 53.3% 0 - unknown(0) tolerated(0.08) - HMMPfam_LRR_1,HMMSmart_SM00368,superfamily_RNI-like IRF2BPL 64207 genome.wustl.edu 37 14 77492930 77492930 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024496.2 -1 validated p.V402 1.000 29 0% 21 28.6% 55 38.1% - - - NULL TMEM63C 57156 genome.wustl.edu 37 14 77715181 77715181 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020431.2 +1 validated p.A612 0.689 101 1% 103 36.9% 1 0% - - - HMMPfam_DUF221 POMT2 29954 genome.wustl.edu 37 14 77765877 77765877 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013382.5 -1 reviewed p.R282C 1.000 106 0% 117 17.1% 14 7.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMT NOXRED1 122945 genome.wustl.edu 37 14 77872366 77872366 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113475.1 -1 validated p.L265 0.000 110 0% 109 36.7% 0 - - - - NULL SPTLC2 9517 genome.wustl.edu 37 14 78045317 78045317 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004863.2 -1 validated p.D155Y 1.000 271 0% 196 27.6% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PyrdxlP-dep_Trfase_major NRXN3 9369 genome.wustl.edu 37 14 79181173 79181173 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004796.4 +1 reviewed p.D206N 1.000 167 0% 105 38.1% 0 - benign(0.002) tolerated(0.43) neutral(0.013) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN3 9369 genome.wustl.edu 37 14 79434667 79434667 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004796.4 +1 reviewed p.G667 0.154 128 0% 93 34.4% 0 - - - - superfamily_ConA_like_lec_gl DIO2 1734 genome.wustl.edu 37 14 80677658 80677658 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007023.2 -1 reviewed p.R53H 1.000 32 0% 35 37.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_T4_deiodinase CEP128 145508 genome.wustl.edu 37 14 81227904 81227904 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152446.3 -1 validated p.R810 0.999 275 0% 207 28.5% 3 33.3% - - - NULL CEP128 145508 genome.wustl.edu 37 14 81251822 81251822 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152446.3 -1 validated p.R543Q 1.000 94 0% 95 32.6% 1 0% unknown(0) deleterious(0.03) - NULL CEP128 145508 genome.wustl.edu 37 14 81307112 81307112 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152446.3 -1 validated p.A255T 1.000 232 0% 206 23.3% 0 - possibly_damaging(0.93) tolerated(0.25) neutral(0.413) NULL CEP128 145508 genome.wustl.edu 37 14 81371212 81371212 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152446.3 -1 validated p.R142Q 0.017 330 0% 257 29.2% 2 0% benign(0.152) deleterious(0.03) neutral(0.378) NULL CEP128 145508 genome.wustl.edu 37 14 81372398 81372398 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152446.3 -1 validated p.D88N 1.000 224 0% 188 30.3% 1 100% benign(0) tolerated(1) - NULL TSHR 7253 genome.wustl.edu 37 14 81574766 81574766 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000369.2 +1 reviewed p.F221C 1.000 204 0% 169 26.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like SEL1L 6400 genome.wustl.edu 37 14 81969179 81969179 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005065.4 -1 validated p.A221 1.000 282 0% 278 29.1% 3 0% - - - HMMPfam_Sel1,HMMSmart_SM00671,superfamily_HCP-like FLRT2 23768 genome.wustl.edu 37 14 86087995 86087995 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013231.4 +1 reviewed p.F46S 1.000 212 0% 163 27% 1 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058 GALC 2581 genome.wustl.edu 37 14 88442730 88442730 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000153.2 -1 reviewed p.E242K 0.976 271 0% 202 22.3% 3 0% possibly_damaging(0.731) tolerated(0.16) neutral(0.327) HMMPfam_Glyco_hydro_59,superfamily_(Trans)glycosidases KCNK10 54207 genome.wustl.edu 37 14 88652066 88652066 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138317.2 -1 reviewed p.R482Q 1.000 143 0% 140 28.6% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL SPATA7 55812 genome.wustl.edu 37 14 88883139 88883139 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018418.4 +1 reviewed p.R108Q 0.000 292 0% 185 29.2% 3 66.6% benign(0.001) tolerated(1) - NULL EML5 161436 genome.wustl.edu 37 14 89154678 89154678 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_183387.2 -1 validated p.I893 1.000 613 0% 545 24.4% 0 - - - - HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 TTC8 123016 genome.wustl.edu 37 14 89305849 89305849 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144596.2 +1 reviewed p.E66D 1.000 155 0% 112 27.7% 4 25% benign(0.081) tolerated(1) neutral(0.006) NULL KCNK13 56659 genome.wustl.edu 37 14 90651139 90651139 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022054.2 +1 reviewed p.R340H 1.000 67 0% 53 34% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL C14orf102 55051 genome.wustl.edu 37 14 90769167 90769167 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017970.2 -1 validated p.K436N 0.998 77 0% 79 35.4% 3 33.3% possibly_damaging(0.804) deleterious(0.02) deleterious(0.685) HMMPfam_DUF1740,superfamily_Prenyl_trans RPS6KA5 9252 genome.wustl.edu 37 14 91389511 91389511 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004755.2 -1 validated p.T216 0.998 172 0% 166 30.1% 1 100% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase C14orf159 80017 genome.wustl.edu 37 14 91655456 91655456 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102368.1 +1 validated p.I379 0.000 37 0% 39 43.6% 12 16.6% - - - NULL SMEK1 55671 genome.wustl.edu 37 14 91942231 91942231 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032560.4 -1 validated p.R397Q 1.000 140 0% 132 29.5% 14 42.8% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_ARM-type_fold SMEK1 55671 genome.wustl.edu 37 14 91943263 91943263 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032560.4 -1 validated p.R328I 1.000 29 0% 27 40.7% 20 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF625,superfamily_ARM-type_fold TRIP11 9321 genome.wustl.edu 37 14 92470474 92470474 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004239.3 -1 reviewed p.K1282N 0.318 169 0% 114 33.3% 3 66.6% possibly_damaging(0.788) tolerated(0.14) deleterious(0.544) NULL TRIP11 9321 genome.wustl.edu 37 14 92482109 92482109 + Nonsense_Mutation SNP G G A rs186197454 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004239.3 -1 reviewed p.R252* 1.000 107 0% 95 35.8% 0 - - - - NULL ATXN3 4287 genome.wustl.edu 37 14 92547327 92547327 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004993.5 -1 reviewed p.R285Q 1.000 66 0% 66 30.3% 10 60% probably_damaging(0.997) deleterious(0.05) deleterious(0.811) NULL SLC24A4 123041 genome.wustl.edu 37 14 92908447 92908447 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153646.2 +1 validated p.S119 0.762 95 0% 75 33.3% 0 - - - - HMMPfam_Na_Ca_ex LGMN 5641 genome.wustl.edu 37 14 93180774 93180774 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008530.1 -1 reviewed p.I143V 0.914 89 0% 52 36.5% 215 44.1% benign(0) tolerated(0.7) neutral(0.002) HMMPfam_Peptidase_C13 BTBD7 55727 genome.wustl.edu 37 14 93717818 93717818 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002860.2 -1 validated p.E645K 1.000 426 0% 304 33.2% 2 50% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL BTBD7 55727 genome.wustl.edu 37 14 93761138 93761138 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002860.2 -1 validated p.S76 0.412 161 0% 162 28.4% 1 100% - - - NULL UNC79 57578 genome.wustl.edu 37 14 94063724 94063724 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020818.3 +1 validated p.I893M 1.000 236 0% 239 29.3% 0 - benign(0.01) tolerated(0.31) neutral(0.028) NULL UNC79 57578 genome.wustl.edu 37 14 94084604 94084604 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020818.3 +1 validated p.L1254I 1.000 161 0% 139 33.8% 1 0% probably_damaging(0.971) tolerated(0.22) neutral(0.455) NULL UNC79 57578 genome.wustl.edu 37 14 94087975 94087975 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020818.3 +1 validated p.E1289* 1.000 283 0% 198 29.3% 0 - - - - NULL UNC79 57578 genome.wustl.edu 37 14 94170971 94170971 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020818.3 +1 validated p.L2379 1.000 134 0% 87 31% 0 - - - - NULL ASB2 51676 genome.wustl.edu 37 14 94401050 94401050 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016150.3 -1 reviewed p.P572 0.007 49 0% 26 38.5% 4 0% - - - HMMPfam_SOCS_box,HMMSmart_SM00253 DDX24 57062 genome.wustl.edu 37 14 94526753 94526753 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020414.3 -1 reviewed p.L535R 1.000 225 0% 247 27.9% 78 57.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_DEXDc,superfamily_SSF52540 PPP4R4 57718 genome.wustl.edu 37 14 94700907 94700907 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_058237.1 +1 reviewed p.R211Q 1.000 117 0% 79 20.3% 0 - possibly_damaging(0.671) tolerated(0.07) deleterious(0.557) HMMPfam_HEAT,superfamily_ARM repeat PPP4R4 57718 genome.wustl.edu 37 14 94718099 94718099 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_058237.1 +1 reviewed p.G577 0.998 149 0.7% 113 28.3% 0 - - - - superfamily_ARM repeat SERPINA11 256394 genome.wustl.edu 37 14 94914624 94914624 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080451.1 -1 provisional p.A163D 0.253 463 0% 476 29.4% 0 - possibly_damaging(0.886) deleterious(0.01) deleterious(0.752) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA9 327657 genome.wustl.edu 37 14 94931104 94931104 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175739.3 -1 validated p.V348 0.073 285 0% 189 33.9% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINA12 145264 genome.wustl.edu 37 14 94964560 94964560 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173850.2 -1 provisional p.L59 0.005 409 0% 313 31.3% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA5 5104 genome.wustl.edu 37 14 95053744 95053744 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000624.4 +1 validated p.Q15H 0.001 326 0% 266 32.3% 5 60% probably_damaging(0.978) deleterious(0) deleterious(0.865) superfamily_Serpins DICER1 23405 genome.wustl.edu 37 14 95562460 95562460 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030621.3 -1 reviewed p.R1599 0.995 653 0% 655 33.9% 11 27.2% - - - NULL DICER1 23405 genome.wustl.edu 37 14 95562811 95562811 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030621.3 -1 reviewed p.K1482N 0.999 210 0% 207 30.4% 20 15% possibly_damaging(0.566) deleterious(0.01) deleterious(0.599) HMMPfam_Ribonuclease_3,HMMSmart_RIBOc,superfamily_RNase_III BDKRB2 624 genome.wustl.edu 37 14 96703479 96703479 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000623.3 +1 reviewed p.S12Y 0.000 179 0% 162 29% 4 0% possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) NULL BDKRB1 623 genome.wustl.edu 37 14 96731074 96731074 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000710.2 +1 reviewed p.R352Q 0.002 130 0% 91 24.2% 0 - benign(0.046) tolerated(0.3) neutral(0.031) NULL ATG2B 55102 genome.wustl.edu 37 14 96757944 96757944 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018036.5 -1 validated p.R1858* 1.000 251 0% 228 28.1% 0 - - - - NULL ATG2B 55102 genome.wustl.edu 37 14 96770930 96770930 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018036.5 -1 validated p.S1582R 0.998 227 0% 177 27.1% 5 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL ATG2B 55102 genome.wustl.edu 37 14 96779761 96779761 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018036.5 -1 validated p.F1218L 1.000 108 0.9% 85 30.6% 0 - probably_damaging(0.957) deleterious(0.02) deleterious(0.784) NULL ATG2B 55102 genome.wustl.edu 37 14 96790257 96790257 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018036.5 -1 validated p.S839L 0.909 156 0% 157 24.8% 1 0% benign(0.01) tolerated(0.29) neutral(0.030) NULL AK7 122481 genome.wustl.edu 37 14 96875238 96875238 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152327.2 +1 validated p.S153L 0.740 96 0% 95 26.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-binding Rossmann-fold domains PAPOLA 10914 genome.wustl.edu 37 14 96986521 96986521 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032632.3 +1 validated p.L46F 1.000 271 0% 273 38.1% 50 40% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_PAP_central,superfamily_Nucleotidyltransferase VRK1 7443 genome.wustl.edu 37 14 97321640 97321640 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003384.2 +1 reviewed p.R219I 1.000 179 0% 147 27.2% 30 30% possibly_damaging(0.837) deleterious(0) deleterious(0.764) superfamily_Kinase_like WDR25 79446 genome.wustl.edu 37 14 100995449 100995449 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024515.4 +1 validated p.P439 0.615 16 0% 19 36.8% 20 70% - - - superfamily_WD40 repeat-like BEGAIN 57596 genome.wustl.edu 37 14 101012947 101012947 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020836.3 -1 validated p.H23Y 1.000 12 0% 11 54.5% 0 - possibly_damaging(0.925) tolerated(0.1) deleterious(0.660) NULL LOC100288131 100288131 genome.wustl.edu 37 14 101194873 101194873 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343290.1 -1 model p.F84C 0.000 27 0% 19 31.6% 0 - - - - NULL MIR370 442915 genome.wustl.edu 37 14 101377483 101377483 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000362135 +1 known NULL 0.997 72 0% 71 33.8% 0 - - - - - MIR376B 574435 genome.wustl.edu 37 14 101506062 101506062 + RNA SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000459389 +1 known NULL 0.037 8 0.000 15 0.267 0 - - - - - MIR485 574436 genome.wustl.edu 37 14 101521785 101521785 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000385292 +1 known NULL 1.000 97 0% 78 57.7% 0 - - - - - MIR485 574436 genome.wustl.edu 37 14 101521798 101521798 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000385292 +1 known NULL 1.000 95 0% 74 33.8% 0 - - - - - DIO3 1735 genome.wustl.edu 37 14 102028588 102028588 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001362.3 +1 reviewed p.S226L 1.000 47 0% 28 50% 0 - possibly_damaging(0.496) tolerated(0.2) neutral(0.215) HMMPfam_T4_deiodinase PPP2R5C 5527 genome.wustl.edu 37 14 102348516 102348516 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002719.3 +1 reviewed p.R105* 1.000 66 0% 44 20.5% 40 17.5% - - - HMMPfam_B56,superfamily_ARM repeat PPP2R5C 5527 genome.wustl.edu 37 14 102372814 102372814 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002719.3 +1 reviewed p.L367 1.000 121 0% 184 29.9% 85 72.9% - - - HMMPfam_B56,superfamily_ARM repeat DYNC1H1 1778 genome.wustl.edu 37 14 102484870 102484870 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001376.4 +1 reviewed p.A2754S 1.000 61 0% 43 32.6% 22 40.9% possibly_damaging(0.854) deleterious(0.02) deleterious(0.712) superfamily_SSF52540 DYNC1H1 1778 genome.wustl.edu 37 14 102493589 102493589 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001376.4 +1 reviewed p.V2950 0.561 171 0% 157 26.8% 20 20% - - - HMMSmart_AAA,superfamily_SSF52540 DYNC1H1 1778 genome.wustl.edu 37 14 102498778 102498778 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001376.4 +1 reviewed p.I3351 1.000 138 0% 154 28.6% 32 37.5% - - - NULL DYNC1H1 1778 genome.wustl.edu 37 14 102504912 102504912 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001376.4 +1 reviewed p.F3675C 1.000 71 0% 52 25% 95 36.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DYNC1H1 1778 genome.wustl.edu 37 14 102516831 102516831 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001376.4 +1 reviewed p.F4624 0.232 492 0% 355 32.1% 433 39.9% - - - HMMPfam_Dynein_heavy RCOR1 23186 genome.wustl.edu 37 14 103167627 103167627 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015156.2 +1 validated p.I150S 1.000 198 0% 169 37.9% 6 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ELM2 CDC42BPB 9578 genome.wustl.edu 37 14 103442080 103442080 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006035.3 -1 reviewed p.R483Q 0.999 117 0% 78 16.7% 31 41.9% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL EXOC3L4 91828 genome.wustl.edu 37 14 103574851 103574851 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077594.1 +1 validated p.I658S 1.000 186 0% 143 37.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Sec6 MARK3 4140 genome.wustl.edu 37 14 103933460 103933460 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128918.1 +1 validated p.S348A 1.000 170 0% 167 27.5% 24 45.8% benign(0.157) tolerated(0.23) neutral(0.056) HMMPfam_UBA,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00165 MARK3 4140 genome.wustl.edu 37 14 103958327 103958327 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128918.1 +1 validated p.G600 0.992 101 0% 107 33.6% 57 45.6% - - - NULL TDRD9 122402 genome.wustl.edu 37 14 104474793 104474793 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153046.2 +1 validated p.R699I 1.000 289 0% 229 23.1% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL TDRD9 122402 genome.wustl.edu 37 14 104488529 104488529 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153046.2 +1 validated p.R823I 0.996 51 0% 33 36.4% 0 - probably_damaging(0.964) tolerated(0.19) neutral(0.456) NULL TDRD9 122402 genome.wustl.edu 37 14 104515962 104515962 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153046.2 +1 validated p.K1331T 0.999 16 0% 22 36.4% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL ADSSL1 122622 genome.wustl.edu 37 14 105207558 105207558 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199165.1 +1 validated p.A300 0.278 12 0% 12 41.7% 4 50% - - - HMMPfam_Adenylsucc_synt,HMMSmart_Adenylsucc_synt,superfamily_SSF52540 SIVA1 10572 genome.wustl.edu 37 14 105222017 105222017 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006427.3 +1 reviewed p.V57M 0.000 71 0% 62 35.5% 191 48.6% benign(0.157) tolerated(0.1) neutral(0.300) HMMPfam_Siva AHNAK2 113146 genome.wustl.edu 37 14 105405706 105405706 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138420.2 -1 validated p.S5361N 0.000 31 0% 25 48% 32 25% probably_damaging(0.962) tolerated(0.61) neutral(0.409) NULL AHNAK2 113146 genome.wustl.edu 37 14 105406088 105406088 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138420.2 -1 validated p.E5234* 0.000 202 0% 117 27.4% 23 56.5% - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105409466 105409466 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138420.2 -1 validated p.A4108T 0.001 187 0% 91 34.1% 5 100% benign(0.104) tolerated(0.2) neutral(0.057) NULL AHNAK2 113146 genome.wustl.edu 37 14 105415997 105415997 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138420.2 -1 validated p.A1931T 0.346 107 0% 82 25.6% 4 0% benign(0.012) tolerated(0.38) neutral(0.018) NULL AHNAK2 113146 genome.wustl.edu 37 14 105416825 105416825 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138420.2 -1 validated p.D1655Y 0.998 140 0% 103 24.3% 2 50% benign(0.045) deleterious(0.02) neutral(0.386) NULL AHNAK2 113146 genome.wustl.edu 37 14 105419805 105419805 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138420.2 -1 validated p.Q661H 0.000 183 0% 143 30.1% 1 100% possibly_damaging(0.616) tolerated(0.23) neutral(0.256) NULL AHNAK2 113146 genome.wustl.edu 37 14 105420318 105420318 + Missense_Mutation SNP C C A rs186581911 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138420.2 -1 validated p.K490N 0.139 52 0% 47 38.3% 0 - benign(0.049) - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105421413 105421413 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138420.2 -1 validated p.L178I 0.968 37 0% 29 17.2% 3 0% benign(0.049) deleterious(0) neutral(0.448) HMMSmart_SM00228,superfamily_PDZ domain-like BRF1 2972 genome.wustl.edu 37 14 105722867 105722867 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001519.2 -1 reviewed p.S153 0.997 11 0% 14 35.7% 6 16.6% - - - HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_TFIIB IGHG2 3501 genome.wustl.edu 37 14 106109777 106109777 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390545 -1 known p.V248 0.006 489 0% 505 28.3% 300 0% - - - HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 IGHG2 3501 genome.wustl.edu 37 14 106110438 106110438 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390545 -1 known p.R100C 0.000 416 0% 500 26.8% 334 0% benign(0.094) deleterious(0.03) neutral(0.371) superfamily_SSF48726 IGHG2 3501 genome.wustl.edu 37 14 106110900 106110900 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390545 -1 known p.F76 0.007 271 0% 324 29% 393 0% - - - HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 IGHV1-2 28474 genome.wustl.edu 37 14 106452675 106452675 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390594 -1 known p.A116V 1.000 239 0% 267 31.1% 1 0% benign(0.03) tolerated(0.06) neutral(0.324) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV1-18 28468 genome.wustl.edu 37 14 106641701 106641701 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390605 -1 known p.S71 0.000 364 0% 366 27.9% 5 0% - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV3-43 28426 genome.wustl.edu 37 14 106926474 106926474 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000434710 -1 known p.L23R 0.998 680 0% 612 34.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V-set,superfamily_SSF48726 IGHV1-45 28466 genome.wustl.edu 37 14 106963039 106963039 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390621 -1 known p.Q81H 0.005 259 0% 203 29.1% 0 - benign(0.241) deleterious(0.04) neutral(0.373) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV1-45 28466 genome.wustl.edu 37 14 106963350 106963350 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390621 -1 known p.R6I 0.066 141 0% 139 23% 0 - probably_damaging(0.98) tolerated(0.69) neutral(0.426) NULL IGHV2-70 28454 genome.wustl.edu 37 14 107178984 107178984 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390634 -1 known p.A65T 0.977 166 0% 163 24.5% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 ENSG00000215407 0 genome.wustl.edu 37 15 20434032 20434032 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000400226 -1 known p.K530N 0.997 259 0% 320 15.6% 2 0% - - - NULL ENSG00000215407 0 genome.wustl.edu 37 15 20457279 20457279 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000400226 -1 known p.E204* 1.000 63 0% 54 14.8% 1 0% - - - HMMPfam_BRO1 ENSG00000215407 0 genome.wustl.edu 37 15 20476948 20476948 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000400226 -1 known p.D37Y 1.000 116 0% 129 17.8% 0 - - - - HMMPfam_BRO1 LOC727924 727924 genome.wustl.edu 37 15 22332609 22332609 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_015416.1 +1 predicted NULL 0.779 319 0% 329 25.8% 0 - - - - - LOC642131 642131 genome.wustl.edu 37 15 22472934 22472934 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001716834.1 -1 model p.Y120H 1.000 337 0% 291 16.5% 1 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin LOC642131 642131 genome.wustl.edu 37 15 22473169 22473169 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001716834.1 -1 model p.S41 0.010 182 1.1% 156 20.5% 2 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin TUBGCP5 114791 genome.wustl.edu 37 15 22868880 22868880 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102610.1 +1 validated p.E918K 0.997 72 0% 62 32.3% 17 64.7% possibly_damaging(0.712) tolerated(0.45) neutral(0.270) HMMPfam_Spc97_Spc98 ENSG00000223681 0 genome.wustl.edu 37 15 23326106 23326106 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000422607 -1 known p.R196W 1.000 639 0% 493 16.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC653061 653061 genome.wustl.edu 37 15 23602759 23602759 + Missense_Mutation SNP A A C rs4778487 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343324.1 +1 model p.K105T 1.000 49 0% 59 23.7% 0 - - - - NULL C15orf2 23742 genome.wustl.edu 37 15 24922684 24922684 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018958.2 +1 reviewed p.V557A 0.000 320 0% 306 31.4% 0 - benign(0.002) - - NULL C15orf2 23742 genome.wustl.edu 37 15 24922862 24922862 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018958.2 +1 reviewed p.K616N 0.001 187 0% 171 33.3% 0 - probably_damaging(0.994) - - NULL UBE3A 7337 genome.wustl.edu 37 15 25601053 25601053 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000462.2 -1 reviewed p.N707H 1.000 151 0% 106 33% 14 50% possibly_damaging(0.732) deleterious(0.05) deleterious(0.613) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain ATP10A 57194 genome.wustl.edu 37 15 25924992 25924992 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024490.3 -1 reviewed p.K1332N 0.034 75 0% 57 43.9% 1 0% benign(0) tolerated(0.16) neutral(0.059) NULL GABRB3 2562 genome.wustl.edu 37 15 26812839 26812839 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000814.4 -1 reviewed p.N242D 1.000 198 0% 197 39.6% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRB3 2562 genome.wustl.edu 37 15 26866681 26866681 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000814.4 -1 reviewed p.D81Y 1.000 126 0% 115 22.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRA5 2558 genome.wustl.edu 37 15 27114407 27114407 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000810.3 +1 reviewed p.G4 1.000 119 0% 72 31.9% 0 - - - - NULL OCA2 4948 genome.wustl.edu 37 15 28259961 28259961 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000275.2 -1 reviewed p.T335 0.000 37 0% 18 55.6% 0 - - - - NULL HERC2 8924 genome.wustl.edu 37 15 28380783 28380783 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004667.4 -1 reviewed p.S4024L 1.000 145 0% 137 35% 3 66.6% probably_damaging(0.987) tolerated(0.05) deleterious(0.782) HMMPfam_RCC1,superfamily_RCC1/BLIP-II HERC2 8924 genome.wustl.edu 37 15 28386774 28386774 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004667.4 -1 reviewed p.R3940Q 1.000 240 0% 215 25.1% 9 11.1% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) superfamily_RCC1/BLIP-II HERC2 8924 genome.wustl.edu 37 15 28458998 28458998 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004667.4 -1 reviewed p.D2226N 1.000 149 0% 115 27.8% 0 - benign(0.001) tolerated(0.14) neutral(0.249) NULL HERC2 8924 genome.wustl.edu 37 15 28474382 28474382 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004667.4 -1 reviewed p.R1744Q 1.000 695 0% 561 61.7% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL ENSG00000206149 0 genome.wustl.edu 37 15 28882424 28882424 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000382946 +1 known p.T199K 1.000 247 0% 209 5.7% 0 - - - - NULL TRPM1 4308 genome.wustl.edu 37 15 31325055 31325055 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002420.4 -1 reviewed p.S908F 0.998 178 0% 161 26.7% 0 - benign(0.113) deleterious(0.03) neutral(0.373) HMMPfam_Ion_trans LOC283711 283711 genome.wustl.edu 37 15 31712358 31712358 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_040656.2 +1 model NULL 0.000 32 0% 42 21.4% 0 - - - - - CHRNA7 1139 genome.wustl.edu 37 15 32451842 32451842 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000746.3 +1 reviewed p.S289L 1.000 217 0% 204 21.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM ARHGAP11A 9824 genome.wustl.edu 37 15 32920998 32920998 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014783.3 +1 validated p.R311I 0.658 150 0% 120 23.3% 11 72.7% benign(0.392) deleterious(0.01) deleterious(0.531) NULL ARHGAP11A 9824 genome.wustl.edu 37 15 32921921 32921921 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014783.3 +1 validated p.L355 1.000 187 0% 127 22% 4 50% - - - NULL ARHGAP11A 9824 genome.wustl.edu 37 15 32925187 32925187 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014783.3 +1 validated p.I371 0.637 275 0% 185 10.3% 5 20% - - - NULL SCG5 6447 genome.wustl.edu 37 15 32971993 32971993 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144757.1 +1 validated p.L85V 1.000 416 0% 370 31.4% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Secretogranin_V FMN1 342184 genome.wustl.edu 37 15 33261397 33261397 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001103184.2 -1 validated p.I612 0.917 548 0.2% 478 30.5% 0 - - - - NULL FMN1 342184 genome.wustl.edu 37 15 33359291 33359291 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001103184.2 -1 validated p.V265 0.000 179 0% 142 29.6% 0 - - - - NULL RYR3 6263 genome.wustl.edu 37 15 33855049 33855049 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001036.3 +1 validated p.E328 1.000 188 0% 183 32.2% 0 - - - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 RYR3 6263 genome.wustl.edu 37 15 33895540 33895540 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001036.3 +1 validated p.G713 0.809 234 0% 192 24.5% 0 - - - - HMMPfam_SPRY,HMMSmart_SM00449 RYR3 6263 genome.wustl.edu 37 15 33926900 33926900 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001036.3 +1 validated p.Y1047 1.000 292 0% 210 31% 0 - - - - HMMPfam_RyR RYR3 6263 genome.wustl.edu 37 15 33939648 33939648 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001036.3 +1 validated p.S1322Y 0.998 62 0% 50 36% 0 - possibly_damaging(0.565) - - NULL RYR3 6263 genome.wustl.edu 37 15 34015016 34015016 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001036.3 +1 validated p.L2240 0.960 362 0% 281 33.5% 0 - - - - NULL RYR3 6263 genome.wustl.edu 37 15 34080594 34080594 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001036.3 +1 validated p.F3255 0.741 88 0% 75 37.3% 0 - - - - NULL RYR3 6263 genome.wustl.edu 37 15 34102839 34102839 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001036.3 +1 validated p.R3396* 0.991 53 0% 71 31% 0 - - - - NULL RYR3 6263 genome.wustl.edu 37 15 34130453 34130453 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001036.3 +1 validated p.D4091A 1.000 187 0% 237 29.5% 0 - probably_damaging(0.999) - - NULL RYR3 6263 genome.wustl.edu 37 15 34130556 34130556 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001036.3 +1 validated p.E4125D 0.003 195 0% 212 31.6% 0 - benign(0.001) - - NULL RYR3 6263 genome.wustl.edu 37 15 34150050 34150050 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001036.3 +1 validated p.R4693C 1.000 86 0% 81 32.1% 0 - probably_damaging(1) - - HMMPfam_Ion_trans AVEN 57099 genome.wustl.edu 37 15 34295260 34295260 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020371.2 -1 validated p.D140Y 1.000 146 0% 135 33.3% 23 34.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CHRM5 1133 genome.wustl.edu 37 15 34355405 34355405 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012125.3 +1 validated p.A163T 1.000 202 0% 229 31.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 PGBD4 161779 genome.wustl.edu 37 15 34395832 34395832 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152595.4 +1 validated p.K367T 0.128 114 0% 101 20.8% 0 - possibly_damaging(0.892) tolerated(0.35) neutral(0.372) NULL PGBD4 161779 genome.wustl.edu 37 15 34396097 34396097 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152595.4 +1 validated p.F455L 0.060 112 0% 88 12.5% 1 0% benign(0.003) tolerated(0.79) neutral(0.001) NULL PGBD4 161779 genome.wustl.edu 37 15 34396248 34396248 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152595.4 +1 validated p.R506* 0.005 110 0% 96 39.6% 1 100% - - - NULL SLC12A6 9990 genome.wustl.edu 37 15 34532928 34532928 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133647.1 -1 reviewed p.T790 0.981 158 0% 142 25.4% 0 - - - - NULL C15orf55 256646 genome.wustl.edu 37 15 34640432 34640432 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175741.1 +1 validated p.K93N 1.000 188 0% 161 9.9% 0 - probably_damaging(0.978) deleterious(0.04) deleterious(0.769) NULL LPCAT4 254531 genome.wustl.edu 37 15 34655895 34655895 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153613.2 -1 validated p.V226 1.000 140 0% 106 38.7% 28 39.2% - - - HMMPfam_Acyltransferase,HMMSmart_SM00563,superfamily_Glycerol-3-phosphate (1)-acyltransferase GJD2 57369 genome.wustl.edu 37 15 35044753 35044753 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020660.1 -1 provisional p.R298C 1.000 99 0% 65 33.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ACTC1 70 genome.wustl.edu 37 15 35083430 35083430 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005159.4 -1 reviewed p.R292H 1.000 193 0% 190 32.6% 1 0% possibly_damaging(0.807) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ACTC1 70 genome.wustl.edu 37 15 35084453 35084453 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005159.4 -1 reviewed p.E216* 1.000 84 0% 99 30.3% 2 0% - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ACTC1 70 genome.wustl.edu 37 15 35085540 35085540 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005159.4 -1 reviewed p.K120N 1.000 123 0% 91 24.2% 1 0% benign(0.348) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain AQR 9716 genome.wustl.edu 37 15 35174815 35174815 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014691.2 -1 validated p.R1018Q 1.000 173 0% 129 21.7% 29 48.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52540 AQR 9716 genome.wustl.edu 37 15 35224577 35224577 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014691.2 -1 validated p.V281A 1.000 101 0% 103 35.9% 9 33.3% benign(0.145) tolerated(0.35) neutral(0.033) NULL ZNF770 54989 genome.wustl.edu 37 15 35274653 35274653 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014106.2 -1 validated p.R328I 1.000 44 0% 41 31.7% 7 42.8% possibly_damaging(0.778) tolerated(0.19) neutral(0.340) NULL ENSG00000248276 0 genome.wustl.edu 37 15 35377338 35377338 + RNA SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000514460 +1 known NULL 0.068 61 0% 76 28.9% 0 - - - - - ENSG00000248276 0 genome.wustl.edu 37 15 35377363 35377363 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000514460 +1 known NULL 0.000 45 0% 56 23.2% 0 - - - - - ATPBD4 89978 genome.wustl.edu 37 15 35814294 35814294 + Nonstop_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001141972.1 -1 validated p.*166C 1.000 70 0% 61 34.4% 0 - - - - NULL MEIS2 4212 genome.wustl.edu 37 15 37186983 37186983 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170677.2 -1 reviewed p.G393D 1.000 326 0% 255 21.6% 18 77.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TMCO5A 145942 genome.wustl.edu 37 15 38243268 38243268 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152453.2 +1 provisional p.F234V 0.856 332 0% 293 32.4% 0 - possibly_damaging(0.711) tolerated(0.73) neutral(0.259) NULL RASGRP1 10125 genome.wustl.edu 37 15 38792312 38792312 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005739.3 -1 reviewed p.R571L 1.000 228 0% 202 29.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain RASGRP1 10125 genome.wustl.edu 37 15 38803816 38803816 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005739.3 -1 reviewed p.E319* 1.000 85 0% 93 28% 1 0% - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF THBS1 7057 genome.wustl.edu 37 15 39874866 39874866 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003246.2 +1 reviewed p.D180 0.019 63 0% 38 28.9% 14 0% - - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases FSIP1 161835 genome.wustl.edu 37 15 40057852 40057852 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152597.4 -1 validated p.E136* 1.000 147 0% 101 17.8% 0 - - - - NULL BAHD1 22893 genome.wustl.edu 37 15 40750704 40750704 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014952.3 +1 validated p.S14L 0.966 104 0% 73 19.2% 1 0% probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL CASC5 57082 genome.wustl.edu 37 15 40949601 40949601 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170589.3 +1 validated p.E2241K 1.000 197 0% 201 26.4% 11 9% possibly_damaging(0.936) deleterious(0.03) deleterious(0.746) NULL DNAJC17 55192 genome.wustl.edu 37 15 41067783 41067783 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018163.2 -1 validated p.N164H 0.977 135 0% 95 37.9% 31 32.2% benign(0.001) tolerated(0.21) neutral(0.044) NULL DNAJC17 55192 genome.wustl.edu 37 15 41099571 41099571 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018163.2 -1 validated p.K25R 1.000 91 0% 71 26.8% 17 52.9% probably_damaging(0.996) tolerated(0.16) deleterious(0.521) HMMPfam_DnaJ,HMMSmart_DnaJ,superfamily_DnaJ_N RHOV 171177 genome.wustl.edu 37 15 41165431 41165431 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133639.3 -1 validated p.R179Q 1.000 160 0% 111 24.3% 15 46.6% possibly_damaging(0.951) tolerated(0.12) deleterious(0.655) HMMSmart_RHO,HMMPfam_Ras,superfamily_SSF52540 INO80 54617 genome.wustl.edu 37 15 41289747 41289747 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017553.1 -1 reviewed p.N1184D 1.000 113 0% 131 29.8% 6 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases NDUFAF1 51103 genome.wustl.edu 37 15 41688814 41688814 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016013.2 -1 validated p.S148R 0.999 181 0.6% 205 32.7% 34 47% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CIA30 LTK 4058 genome.wustl.edu 37 15 41801322 41801322 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002344.5 -1 reviewed p.D335N 0.968 27 0% 36 27.8% 0 - benign(0.076) tolerated(0.44) neutral(0.018) NULL RPAP1 26015 genome.wustl.edu 37 15 41819230 41819230 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015540.2 -1 reviewed p.R595* 0.998 133 0% 153 24.2% 6 16.6% - - - NULL MGA 23269 genome.wustl.edu 37 15 42028447 42028447 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080541.2 +1 validated p.P1329T 1.000 161 0% 158 24.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MGA 23269 genome.wustl.edu 37 15 42052635 42052635 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080541.2 +1 validated p.R2485C 0.997 187 0% 204 32.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain ENSG00000200293 0 genome.wustl.edu 37 15 42144129 42144129 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000363423 -1 novel NULL 0.000 20 0% 11 36.4% 0 - - - - - PLA2G4F 255189 genome.wustl.edu 37 15 42439413 42439413 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_213600.3 -1 validated p.T443S 0.000 26 0% 23 30.4% 2 50% benign(0.001) tolerated(0.52) neutral(0.009) HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like VPS39 23339 genome.wustl.edu 37 15 42470454 42470454 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015289.2 -1 reviewed p.L308I 1.000 189 0% 174 24.7% 10 50% possibly_damaging(0.916) tolerated(0.08) deleterious(0.667) NULL TMEM87A 25963 genome.wustl.edu 37 15 42525452 42525452 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015497.3 -1 validated p.L341I 1.000 347 0% 292 13.7% 57 19.2% probably_damaging(0.995) tolerated(0.11) deleterious(0.729) HMMPfam_Lung_7-TM_R GANC 2595 genome.wustl.edu 37 15 42570736 42570736 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198141.2 +1 reviewed p.V50A 1.000 122 0% 81 38.3% 5 40% benign(0.004) deleterious(0.05) neutral(0.345) NULL GANC 2595 genome.wustl.edu 37 15 42602942 42602942 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198141.2 +1 reviewed p.R319C 0.470 227 0% 230 28.7% 0 - possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) NULL GANC 2595 genome.wustl.edu 37 15 42621632 42621632 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198141.2 +1 reviewed p.I543 1.000 205 0% 197 28.9% 1 0% - - - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases GANC 2595 genome.wustl.edu 37 15 42632043 42632043 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198141.2 +1 reviewed p.Y674D 1.000 112 0% 91 19.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_31 CAPN3 825 genome.wustl.edu 37 15 42652186 42652186 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000070.2 +1 reviewed p.F61 0.985 351 0.3% 317 30% 0 - - - - HMMSmart_SM00230,superfamily_Cysteine proteinases ZFP106 64397 genome.wustl.edu 37 15 42729505 42729505 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022473.1 -1 provisional p.V1534 1.000 214 0% 214 29% 1 0% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 UBR1 197131 genome.wustl.edu 37 15 43307911 43307911 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174916.2 -1 reviewed p.E1062* 1.000 188 0% 132 11.4% 2 0% - - - NULL ADAL 161823 genome.wustl.edu 37 15 43627326 43627326 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012969.2 +1 validated p.Q7 0.027 72 0% 88 46.6% 1 0% - - - NULL ADAL 161823 genome.wustl.edu 37 15 43627911 43627911 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012969.2 +1 validated p.L27F 1.000 122 0% 112 33.9% 2 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_A_deaminase,superfamily_SSF51556 ZSCAN29 146050 genome.wustl.edu 37 15 43659001 43659001 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152455.3 -1 validated p.P177S 1.000 118 0% 138 33.3% 0 - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL TUBGCP4 27229 genome.wustl.edu 37 15 43668391 43668391 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014444.2 +1 provisional p.F58L 1.000 128 0% 129 31.8% 8 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Spc97_Spc98 TP53BP1 7158 genome.wustl.edu 37 15 43748582 43748582 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001141980.1 -1 validated p.E742* 1.000 255 0% 296 29.1% 1 0% - - - NULL CATSPER2 117155 genome.wustl.edu 37 15 43931950 43931950 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172095.1 -1 reviewed p.S203L 0.372 342 0% 310 29.7% 0 - benign(0.025) tolerated(0.39) neutral(0.017) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels EIF3J 8669 genome.wustl.edu 37 15 44852461 44852461 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003758.2 +1 validated p.L196V 1.000 104 0% 91 34.1% 80 48.7% possibly_damaging(0.806) deleterious(0.03) deleterious(0.668) HMMPfam_eIF3_subunit SPG11 80208 genome.wustl.edu 37 15 44859625 44859625 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025137.3 -1 reviewed p.W2251R 1.000 94 0% 67 26.9% 28 53.5% probably_damaging(0.964) tolerated(0.4) neutral(0.422) NULL DUOX2 50506 genome.wustl.edu 37 15 45391909 45391909 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014080.4 -1 reviewed p.A1122 0.020 80 0% 64 17.2% 0 - - - - HMMPfam_Ferric_reduct DUOX2 50506 genome.wustl.edu 37 15 45392300 45392300 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014080.4 -1 reviewed p.C1044 0.003 79 0% 57 35.1% 1 0% - - - NULL DUOX2 50506 genome.wustl.edu 37 15 45397924 45397924 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014080.4 -1 reviewed p.E751K 1.000 120 0% 91 28.6% 0 - possibly_damaging(0.9) tolerated(0.27) neutral(0.390) NULL DUOX1 53905 genome.wustl.edu 37 15 45444547 45444547 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017434.3 +1 reviewed p.S1086L 1.000 84 0% 44 22.7% 0 - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) NULL SPATA5L1 79029 genome.wustl.edu 37 15 45702637 45702637 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024063.2 +1 validated p.S448L 1.000 108 0% 95 33.7% 6 50% benign(0.123) tolerated(0.2) neutral(0.059) superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000200419 0 genome.wustl.edu 37 15 45884194 45884194 + RNA SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000363549 +1 novel NULL 0.157 20 0% 18 38.9% 0 - - - - - SQRDL 58472 genome.wustl.edu 37 15 45965849 45965849 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021199.2 +1 provisional p.S168 0.801 168 0% 165 29.7% 34 8.8% - - - HMMPfam_Pyr_redox_2,superfamily_SSF51905 SQRDL 58472 genome.wustl.edu 37 15 45968314 45968314 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021199.2 +1 provisional p.K224E 1.000 356 0% 349 26.6% 42 19% benign(0.196) tolerated(0.1) neutral(0.305) HMMPfam_Pyr_redox_2,superfamily_SSF51905 SEMA6D 80031 genome.wustl.edu 37 15 48056204 48056204 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153618.1 +1 reviewed p.D302G 1.000 310 0% 259 34% 0 - possibly_damaging(0.535) tolerated(0.46) neutral(0.193) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SLC24A5 283652 genome.wustl.edu 37 15 48433326 48433326 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_205850.2 +1 reviewed p.I365M 0.964 142 0% 97 35.1% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Na_Ca_ex SLC12A1 6557 genome.wustl.edu 37 15 48500322 48500322 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000338.2 +1 reviewed p.E136K 1.000 143 0% 167 29.3% 0 - benign(0.046) tolerated(0.16) neutral(0.062) HMMPfam_AA_permease_N SLC12A1 6557 genome.wustl.edu 37 15 48522700 48522700 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000338.2 +1 reviewed p.K325N 1.000 45 0% 26 38.5% 0 - possibly_damaging(0.81) deleterious(0) deleterious(0.750) HMMPfam_AA_permease SLC12A1 6557 genome.wustl.edu 37 15 48524936 48524936 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000338.2 +1 reviewed p.L330I 1.000 249 0% 230 30.4% 0 - possibly_damaging(0.95) tolerated(0.13) deleterious(0.646) HMMPfam_AA_permease SLC12A1 6557 genome.wustl.edu 37 15 48525022 48525022 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000338.2 +1 reviewed p.F358L 1.000 253 0% 220 24.5% 0 - benign(0.055) tolerated(0.07) neutral(0.323) HMMPfam_AA_permease SLC12A1 6557 genome.wustl.edu 37 15 48551502 48551502 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000338.2 +1 reviewed p.V716 1.000 279 0% 220 31.8% 0 - - - - NULL SLC12A1 6557 genome.wustl.edu 37 15 48559765 48559765 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000338.2 +1 reviewed p.R721H 1.000 64 0% 74 31.1% 0 - benign(0.016) tolerated(0.27) neutral(0.034) NULL FBN1 2200 genome.wustl.edu 37 15 48707780 48707780 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000138.4 -1 reviewed p.G2668 0.038 210 0.5% 153 31.4% 19 0% - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48717646 48717646 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000138.4 -1 reviewed p.I2458T 1.000 140 0% 134 30.6% 17 0% probably_damaging(0.998) tolerated(0.76) deleterious(0.475) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Growth factor receptor domain,HMMPfam_EGF_CA,PatternScan_EGF_CA FBN1 2200 genome.wustl.edu 37 15 48720113 48720113 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000389087 -1 known p.S910F 0.988 19 0% 13 38.5% 0 - unknown(0) deleterious(0) - superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48805787 48805787 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000138.4 -1 reviewed p.R516Q 0.977 112 0% 93 24.7% 3 0% possibly_damaging(0.755) tolerated(0.38) neutral(0.296) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48818350 48818350 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000138.4 -1 reviewed p.S322Y 1.000 279 0% 203 36% 1 0% possibly_damaging(0.509) deleterious(0.01) deleterious(0.576) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin CEP152 22995 genome.wustl.edu 37 15 49031004 49031004 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014985.2 -1 provisional p.R1469 0.000 282 0.4% 300 34.3% 0 - - - - NULL CEP152 22995 genome.wustl.edu 37 15 49037145 49037145 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014985.2 -1 provisional p.D1171N 1.000 110 0% 71 28.2% 0 - probably_damaging(0.99) tolerated(0.23) deleterious(0.483) NULL CEP152 22995 genome.wustl.edu 37 15 49076204 49076204 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014985.2 -1 provisional p.E429 1.000 121 0% 73 17.8% 1 0% - - - NULL ENSG00000250663 0 genome.wustl.edu 37 15 49170995 49170995 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000508082 -1 novel NULL 0.000 33 0% 25 36% 133 34.5% - - - - SECISBP2L 9728 genome.wustl.edu 37 15 49309117 49309117 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014701.2 -1 provisional p.K404N 1.000 144 0% 159 25.8% 3 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SECISBP2L 9728 genome.wustl.edu 37 15 49327822 49327822 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014701.2 -1 provisional p.W79* 1.000 157 0% 158 31% 0 - - - - NULL COPS2 9318 genome.wustl.edu 37 15 49426677 49426677 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143887.1 -1 validated p.T199I 1.000 99 0% 83 21.7% 40 57.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00753,superfamily_TPR-like FGF7 2252 genome.wustl.edu 37 15 49776625 49776625 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002009.3 +1 reviewed p.K170T 0.677 171 0% 109 34.9% 3 0% possibly_damaging(0.647) deleterious(0.02) deleterious(0.610) HMMPfam_FGF,HMMSmart_SM00442,superfamily_Cytokine ATP8B4 79895 genome.wustl.edu 37 15 50168641 50168641 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024837.2 -1 validated p.K954T 0.997 133 0% 129 39.5% 0 - benign(0.004) tolerated(0.56) neutral(0.006) superfamily_SSF81665 ATP8B4 79895 genome.wustl.edu 37 15 50212512 50212512 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024837.2 -1 validated p.A618 0.978 183 0% 162 28.4% 0 - - - - superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP8B4 79895 genome.wustl.edu 37 15 50279653 50279653 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024837.2 -1 validated p.K228R 1.000 178 0% 125 22.4% 0 - benign(0.037) tolerated(0.42) neutral(0.016) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 GABPB1 2553 genome.wustl.edu 37 15 50578303 50578303 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005254.5 -1 reviewed p.E333K 1.000 237 0% 206 24.8% 14 35.7% benign(0.059) deleterious(0.01) neutral(0.410) NULL GABPB1 2553 genome.wustl.edu 37 15 50601971 50601971 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005254.5 -1 reviewed p.K9Q 1.000 184 0% 153 30.7% 6 66.6% benign(0.003) tolerated(0.39) neutral(0.016) superfamily_Ankyrin repeat USP50 373509 genome.wustl.edu 37 15 50830995 50830995 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203494.4 -1 validated p.I243 0.997 129 0% 95 35.8% 0 - - - - HMMPfam_UCH,superfamily_SSF54001 TRPM7 54822 genome.wustl.edu 37 15 50881800 50881800 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017672.4 -1 reviewed p.K1460Q 0.998 104 0% 68 32.4% 5 60% benign(0.014) deleterious(0.03) neutral(0.365) NULL TRPM7 54822 genome.wustl.edu 37 15 50925076 50925076 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017672.4 -1 reviewed p.R374I 1.000 140 0% 125 23.2% 0 - benign(0) deleterious(0.05) neutral(0.345) NULL AP4E1 23431 genome.wustl.edu 37 15 51217364 51217364 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007347.3 +1 validated p.E164K 1.000 90 0% 114 28.9% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Adaptin_N,superfamily_ARM-type_fold CYP19A1 1588 genome.wustl.edu 37 15 51504631 51504631 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000103.3 -1 reviewed p.I383 0.677 563 0% 381 30.7% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP19A1 1588 genome.wustl.edu 37 15 51529090 51529090 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000103.3 -1 reviewed p.W88G 1.000 282 0% 240 30% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_p450,superfamily_Cytochrome_P450 DMXL2 23312 genome.wustl.edu 37 15 51791178 51791178 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015263.3 -1 validated p.D1415Y 1.000 633 0% 694 29.4% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL DMXL2 23312 genome.wustl.edu 37 15 51792126 51792126 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015263.3 -1 validated p.E1099* 1.000 98 0% 110 24.5% 1 100% - - - NULL DMXL2 23312 genome.wustl.edu 37 15 51856450 51856450 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015263.3 -1 validated p.R124S 1.000 185 0% 177 30.5% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00320,superfamily_WD40 repeat-like SCG3 29106 genome.wustl.edu 37 15 51984450 51984450 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013243.3 +1 reviewed p.R262I 1.000 224 0% 207 30% 11 27.2% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL LYSMD2 256586 genome.wustl.edu 37 15 52017315 52017315 + Frame_Shift_Del DEL C C - novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153374.2 -1 validated p.E93fs 1.000 - - - - - - - - - HMMSmart_SM00257,HMMPfam_LysM,superfamily_LysM domain LEO1 123169 genome.wustl.edu 37 15 52254638 52254638 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138792.2 -1 provisional p.K289N 1.000 105 0% 127 37% 6 66.6% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL MAPK6 5597 genome.wustl.edu 37 15 52342321 52342321 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002748.3 +1 reviewed p.K229N 1.000 161 0% 118 31.4% 15 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYO5A 4644 genome.wustl.edu 37 15 52615557 52615557 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000259.3 -1 reviewed p.E1574* 1.000 107 0% 85 27.1% 4 0% - - - NULL MYO5A 4644 genome.wustl.edu 37 15 52662389 52662389 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000259.3 -1 reviewed p.R1015* 0.596 181 0% 157 28% 1 0% - - - NULL FAM214A 56204 genome.wustl.edu 37 15 52901411 52901411 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019600.2 -1 validated p.S567Y 0.870 136 0% 123 26.8% 0 - possibly_damaging(0.648) deleterious(0) deleterious(0.672) NULL ONECUT1 3175 genome.wustl.edu 37 15 53081428 53081428 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004498.1 -1 provisional p.F218 0.901 28 0% 29 34.5% 0 - - - - NULL WDR72 256764 genome.wustl.edu 37 15 53908252 53908252 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182758.2 -1 validated p.K717N 0.986 280 0.4% 295 32.2% 0 - possibly_damaging(0.554) tolerated(0.1) deleterious(0.475) NULL UNC13C 440279 genome.wustl.edu 37 15 54307544 54307544 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080534.1 +1 provisional p.S815I 1.000 124 0% 107 29% 0 - probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL UNC13C 440279 genome.wustl.edu 37 15 54529866 54529866 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080534.1 +1 provisional p.T1069I 1.000 71 0% 63 23.8% 0 - possibly_damaging(0.925) deleterious(0) deleterious(0.818) NULL UNC13C 440279 genome.wustl.edu 37 15 54624287 54624287 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080534.1 +1 provisional p.R1491M 1.000 36 0% 43 39.5% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL UNC13C 440279 genome.wustl.edu 37 15 54916089 54916089 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080534.1 +1 provisional p.R2099I 1.000 238 0% 160 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB UNC13C 440279 genome.wustl.edu 37 15 54919106 54919106 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080534.1 +1 provisional p.R2147Q 1.000 131 0% 123 29.3% 0 - probably_damaging(0.96) tolerated(0.07) deleterious(0.722) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB RAB27A 5873 genome.wustl.edu 37 15 55497869 55497869 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004580.3 -1 reviewed p.T168A 0.984 215 0% 206 26.7% 39 53.8% benign(0) tolerated(0.28) neutral(0.032) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PIGB 9488 genome.wustl.edu 37 15 55643036 55643036 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004855.4 +1 reviewed p.V421 0.295 169 0% 137 29.9% 5 20% - - - HMMPfam_Glyco_transf_22 CCPG1 9236 genome.wustl.edu 37 15 55652604 55652604 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004748.3 -1 validated p.K456T 1.000 435 0% 384 33.1% 21 19% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL DYX1C1 161582 genome.wustl.edu 37 15 55759351 55759351 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130810.2 -1 reviewed p.E138D 1.000 63 0% 70 31.4% 10 80% benign(0.018) tolerated(0.36) neutral(0.021) NULL PYGO1 26108 genome.wustl.edu 37 15 55838376 55838376 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015617.1 -1 provisional p.R369W 1.000 227 0% 228 25% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_PHD,superfamily_FYVE_PHD_ZnF,PatternScan_ZF_PHD_1 PRTG 283659 genome.wustl.edu 37 15 56032595 56032595 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173814.4 -1 validated p.H128N 1.000 377 0% 346 25.1% 0 - possibly_damaging(0.849) tolerated(0.18) neutral(0.382) HMMPfam_I-set,superfamily_SSF48726 PRTG 283659 genome.wustl.edu 37 15 56032715 56032715 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173814.4 -1 validated p.L88F 1.000 546 0% 421 24% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NEDD4 4734 genome.wustl.edu 37 15 56152616 56152616 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198400.2 -1 validated p.A664T 0.007 158 0% 131 35.9% 2 0% benign(0) tolerated(0.23) neutral(0.042) NULL NEDD4 4734 genome.wustl.edu 37 15 56155148 56155148 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198400.2 -1 validated p.E560* 1.000 240 0% 215 23.7% 0 - - - - HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP NEDD4 4734 genome.wustl.edu 37 15 56164652 56164652 + Missense_Mutation SNP C C A rs141693007 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006154.2 -1 validated p.R122I 1.000 13 0% 17 23.5% 0 - unknown(0) tolerated(0.08) - HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) NEDD4 4734 genome.wustl.edu 37 15 56208081 56208081 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198400.2 -1 validated p.G317* 1.000 152 0% 118 26.3% 0 - - - - NULL MNS1 55329 genome.wustl.edu 37 15 56736014 56736014 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018365.2 -1 reviewed p.R242Q 0.998 335 0.3% 234 35.9% 4 100% benign(0.004) tolerated(0.7) neutral(0.002) NULL ZNF280D 54816 genome.wustl.edu 37 15 56958942 56958942 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017661.2 -1 validated p.K596N 0.998 253 0% 189 34.9% 1 100% possibly_damaging(0.851) deleterious(0.04) deleterious(0.676) NULL ZNF280D 54816 genome.wustl.edu 37 15 56974651 56974651 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017661.2 -1 validated p.N269H 1.000 85 0% 75 26.7% 3 66.6% benign(0.018) tolerated(0.09) neutral(0.297) NULL TCF12 6938 genome.wustl.edu 37 15 57458653 57458653 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207036.1 +1 reviewed p.P127S 1.000 275 0% 268 38.8% 21 42.8% benign(0) tolerated(1) - NULL GCOM1 145781 genome.wustl.edu 37 15 58004198 58004198 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001018090.1 +1 reviewed p.N441H 0.000 107 0% 93 32.3% 17 52.9% benign(0.013) tolerated(0.05) neutral(0.346) NULL ALDH1A2 8854 genome.wustl.edu 37 15 58253025 58253025 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003888.2 -1 reviewed p.A476V 1.000 188 0% 173 27.2% 0 - benign(0) tolerated(1) - HMMPfam_Aldedh,superfamily_ALDH-like ALDH1A2 8854 genome.wustl.edu 37 15 58253366 58253366 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003888.2 -1 reviewed p.V460L 1.000 138 0% 130 26.2% 1 0% benign(0) tolerated(0.48) neutral(0.011) HMMPfam_Aldedh,superfamily_ALDH-like ALDH1A2 8854 genome.wustl.edu 37 15 58302898 58302898 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003888.2 -1 reviewed p.R148* 0.813 105 0% 74 27% 0 - - - - HMMPfam_Aldedh,superfamily_ALDH-like LIPC 3990 genome.wustl.edu 37 15 58861003 58861003 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000236.2 +1 reviewed p.T493A 0.052 190 0% 116 32.8% 0 - benign(0.003) tolerated(0.17) neutral(0.059) NULL HSP90AB4P 664618 genome.wustl.edu 37 15 58984838 58984838 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000380522 -1 known p.D163Y 1.000 88 0% 63 36.5% 0 - - - - superfamily_ATP_bd_ATPase HSP90AB4P 664618 genome.wustl.edu 37 15 58985182 58985182 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000380522 -1 known p.K48T 1.000 149 0% 125 28.8% 0 - - - - HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase FAM63B 54629 genome.wustl.edu 37 15 59144009 59144009 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040450.1 +1 validated p.S528G 1.000 163 0% 179 30.2% 0 - benign(0.008) tolerated(0.3) neutral(0.029) NULL SLTM 79811 genome.wustl.edu 37 15 59186128 59186128 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024755.2 -1 validated p.E514* 1.000 202 0% 169 33.7% 10 0% - - - NULL SLTM 79811 genome.wustl.edu 37 15 59205829 59205829 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024755.2 -1 validated p.E128* 1.000 266 0% 270 28.9% 12 0% - - - NULL RNF111 54778 genome.wustl.edu 37 15 59323858 59323858 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017610.6 +1 reviewed p.V279 0.997 262 0% 267 30.3% 8 12.5% - - - NULL MYO1E 4643 genome.wustl.edu 37 15 59466362 59466362 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004998.2 -1 validated p.F709 0.001 272 0% 256 29.7% 23 21.7% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1E 4643 genome.wustl.edu 37 15 59470659 59470659 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004998.2 -1 validated p.S661L 1.000 40 0% 48 27.1% 29 37.9% possibly_damaging(0.671) tolerated(0.14) deleterious(0.487) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM81A 145773 genome.wustl.edu 37 15 59752198 59752198 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152450.2 +1 validated p.L29 0.382 145 0% 105 27.6% 0 - - - - NULL FAM81A 145773 genome.wustl.edu 37 15 59752394 59752394 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152450.2 +1 validated p.R95W 0.994 492 0% 381 24.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LOC100130107 100130107 genome.wustl.edu 37 15 60061097 60061097 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001719310.2 -1 model p.F50L 1.000 114 0% 108 37% 424 0% - - - NULL LOC100130107 100130107 genome.wustl.edu 37 15 60061145 60061145 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001719310.2 -1 model p.L34 1.000 115 0% 120 22.5% 970 0% - - - NULL LOC100130107 100130107 genome.wustl.edu 37 15 60061166 60061166 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001719310.2 -1 model p.R27 1.000 104 0% 105 42.9% 700 0% - - - NULL ANXA2 302 genome.wustl.edu 37 15 60648164 60648164 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002858.2 -1 reviewed p.S179L 0.854 185 0% 195 34.4% 1212 43.8% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 VPS13C 54832 genome.wustl.edu 37 15 62147105 62147105 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020821.1 -1 validated p.R3709* 0.018 81 0% 88 28.4% 9 0% - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62165584 62165584 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020821.1 -1 validated p.R3480Q 1.000 360 0% 331 33.2% 6 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL VPS13C 54832 genome.wustl.edu 37 15 62238060 62238060 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020821.1 -1 validated p.E1668* 1.000 456 0% 359 23.1% 0 - - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62276202 62276202 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020821.1 -1 validated p.A577 1.000 282 0% 231 23.8% 0 - - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62283893 62283893 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020821.1 -1 validated p.E488K 1.000 542 0.2% 444 31.5% 0 - possibly_damaging(0.561) tolerated(0.05) deleterious(0.537) NULL VPS13C 54832 genome.wustl.edu 37 15 62302669 62302669 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020821.1 -1 validated e13+2 0.984 185 0% 126 28.6% 0 - - - - - VPS13C 54832 genome.wustl.edu 37 15 62305311 62305311 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020821.1 -1 validated p.R251Q 0.151 80 0% 66 22.7% 1 100% possibly_damaging(0.657) tolerated(0.14) deleterious(0.481) NULL VPS13C 54832 genome.wustl.edu 37 15 62336448 62336448 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020821.1 -1 validated p.V36A 1.000 47 0% 30 20% 0 - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) NULL TLN2 83660 genome.wustl.edu 37 15 62942361 62942361 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015059.2 +1 reviewed p.Y72C 1.000 110 0% 91 25.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TLN2 83660 genome.wustl.edu 37 15 63000791 63000791 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015059.2 +1 reviewed p.R755C 0.968 47 0% 40 15% 0 - possibly_damaging(0.845) deleterious(0.04) deleterious(0.673) superfamily_SSF109885 TLN2 83660 genome.wustl.edu 37 15 63058558 63058558 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015059.2 +1 reviewed p.I1711 0.999 73 0% 45 31.1% 2 0% - - - NULL TLN2 83660 genome.wustl.edu 37 15 63111769 63111769 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015059.2 +1 reviewed p.R2276* 1.000 91 0% 56 23.2% 3 0% - - - NULL LACTB 114294 genome.wustl.edu 37 15 63433603 63433603 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032857.2 +1 reviewed p.L415I 1.000 277 0% 271 29.9% 9 44.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Beta-lactamase,superfamily_beta-lactamase/transpeptidase-like LOC100130855 100130855 genome.wustl.edu 37 15 63849008 63849008 + RNA SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_078495.1 -1 model NULL 0.005 25 0% 31 32.3% 0 - - - - - HERC1 8925 genome.wustl.edu 37 15 63966789 63966789 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003922.3 -1 reviewed p.L2533P 1.000 54 0% 74 32.4% 1 0% probably_damaging(0.991) - - NULL HERC1 8925 genome.wustl.edu 37 15 63972834 63972834 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003922.3 -1 reviewed p.E2123K 1.000 159 0% 141 12.1% 2 0% probably_damaging(0.995) - - HMMPfam_SPRY,HMMSmart_SM00449 HERC1 8925 genome.wustl.edu 37 15 64015480 64015480 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003922.3 -1 reviewed p.R1215W 0.996 52 0% 44 36.4% 0 - possibly_damaging(0.66) - - NULL DAPK2 23604 genome.wustl.edu 37 15 64231485 64231485 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014326.3 -1 reviewed p.E177K 1.000 557 0% 495 32.3% 8 50% benign(0) tolerated(0.86) neutral(0.001) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SNX1 6642 genome.wustl.edu 37 15 64422191 64422191 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003099.3 +1 reviewed p.V295A 1.000 93 0% 77 32.5% 76 42.1% possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_Vps5 TRIP4 9325 genome.wustl.edu 37 15 64686282 64686282 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016213.3 +1 validated p.S80L 0.997 85 0% 62 24.2% 7 0% possibly_damaging(0.575) tolerated(0.14) neutral(0.447) NULL TRIP4 9325 genome.wustl.edu 37 15 64747249 64747249 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016213.3 +1 validated p.N578Y 1.000 70 0% 61 39.3% 8 50% probably_damaging(0.967) deleterious(0.02) deleterious(0.792) NULL ZNF609 23060 genome.wustl.edu 37 15 64966761 64966761 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015042.1 +1 provisional p.R570* 0.983 391 0% 283 11.7% 2 0% - - - NULL ZNF609 23060 genome.wustl.edu 37 15 64967579 64967579 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015042.1 +1 provisional p.S842 1.000 376 0% 273 26.4% 1 0% - - - NULL MIR1272 100302184 genome.wustl.edu 37 15 65054611 65054611 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000408106 -1 known NULL 0.001 53 0% 42 35.7% 0 - - - - - ANKDD1A 348094 genome.wustl.edu 37 15 65242156 65242156 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182703.3 +1 validated p.F482 0.991 71 0% 38 18.4% 0 - - - - HMMPfam_Death,superfamily_DEATH_like CILP 8483 genome.wustl.edu 37 15 65489521 65489521 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003613.3 -1 reviewed p.R1035* 0.981 85 0% 95 29.5% 2 0% - - - NULL CILP 8483 genome.wustl.edu 37 15 65489862 65489862 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003613.3 -1 reviewed p.R921Q 0.986 140 0% 135 26.7% 1 0% benign(0.135) tolerated(0.33) neutral(0.036) NULL CILP 8483 genome.wustl.edu 37 15 65496738 65496738 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003613.3 -1 reviewed p.R263* 0.999 151 0.7% 106 26.4% 1 0% - - - superfamily_Carboxypeptidase regulatory domain IGDCC4 57722 genome.wustl.edu 37 15 65686774 65686774 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020962.1 -1 provisional p.K563N 1.000 255 0% 188 25.5% 0 - possibly_damaging(0.564) deleterious(0) deleterious(0.637) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III IGDCC4 57722 genome.wustl.edu 37 15 65687558 65687558 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020962.1 -1 provisional p.D484N 1.000 71 0% 62 32.3% 0 - possibly_damaging(0.576) tolerated(0.18) neutral(0.254) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III C15orf44 81556 genome.wustl.edu 37 15 65890686 65890686 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030800.1 -1 predicted p.D241Y 1.000 162 0% 112 11.6% 23 0% possibly_damaging(0.846) deleterious(0.03) deleterious(0.690) NULL SLC24A1 9187 genome.wustl.edu 37 15 65917330 65917330 + Silent SNP G G A rs35776911 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004727.2 +1 validated p.P304 0.000 153 0.7% 143 28% 4 0% - - - NULL SLC24A1 9187 genome.wustl.edu 37 15 65946200 65946200 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004727.2 +1 validated p.I1028S 0.998 295 0% 239 26.4% 1 100% possibly_damaging(0.559) deleterious(0.04) deleterious(0.539) HMMPfam_Na_Ca_ex DENND4A 10260 genome.wustl.edu 37 15 66030085 66030085 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144823.1 -1 validated p.R334C 1.000 51 0% 40 37.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DENN,HMMSmart_SM00799 IQCH 64799 genome.wustl.edu 37 15 67629324 67629324 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031715.2 +1 validated p.S133 0.988 153 0% 130 34.6% 0 - - - - NULL IQCH 64799 genome.wustl.edu 37 15 67636442 67636442 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031715.2 +1 validated p.A184S 1.000 159 0% 179 26.3% 0 - unknown(0) deleterious(0) - NULL IQCH 64799 genome.wustl.edu 37 15 67649703 67649703 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031715.2 +1 validated p.E220K 0.001 138 0% 129 27.1% 0 - unknown(0) tolerated(1) - NULL SKOR1 390598 genome.wustl.edu 37 15 68118276 68118276 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031807.1 +1 provisional p.S28I 1.000 18 0% 21 38.1% 0 - benign(0.099) deleterious(0) neutral(0.452) NULL SKOR1 390598 genome.wustl.edu 37 15 68118609 68118609 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031807.1 +1 provisional p.S139L 1.000 22 0% 13 46.2% 0 - benign(0.037) deleterious(0) neutral(0.447) HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind SKOR1 390598 genome.wustl.edu 37 15 68118647 68118647 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031807.1 +1 provisional p.R152C 1.000 26 0% 16 31.2% 0 - possibly_damaging(0.806) deleterious(0) deleterious(0.748) HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind SKOR1 390598 genome.wustl.edu 37 15 68118703 68118703 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031807.1 +1 provisional p.F170 1.000 30 0% 26 23.1% 0 - - - - superfamily_SAND_like FEM1B 10116 genome.wustl.edu 37 15 68582856 68582856 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015322.3 +1 provisional p.R387Q 1.000 229 0% 237 24.5% 4 50% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) superfamily_ANK CORO2B 10391 genome.wustl.edu 37 15 69018260 69018260 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000261861 +1 known p.R464W 1.000 142 0% 119 37.8% 2 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL NOX5 79400 genome.wustl.edu 37 15 69335138 69335138 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024505.3 +1 validated p.S529L 0.011 96 0% 68 11.8% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_FAD_binding_8,superfamily_Riboflavin_synthase_like_b-brl PAQR5 54852 genome.wustl.edu 37 15 69677019 69677019 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001104554.1 +1 validated p.F61L 1.000 695 0% 867 26.4% 8 25% benign(0.042) deleterious(0.01) neutral(0.408) HMMPfam_HlyIII UACA 55075 genome.wustl.edu 37 15 70959936 70959936 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018003.2 -1 validated p.E1029D 0.996 366 0% 373 34.9% 22 40.9% possibly_damaging(0.582) tolerated(0.06) deleterious(0.522) NULL LRRC49 54839 genome.wustl.edu 37 15 71300934 71300934 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017691.2 +1 validated p.K462N 1.000 67 0% 69 21.7% 10 40% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL LRRC49 54839 genome.wustl.edu 37 15 71329648 71329648 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017691.2 +1 validated p.D612Y 1.000 177 0% 191 34.6% 7 42.8% possibly_damaging(0.934) deleterious(0.02) deleterious(0.763) NULL LRRC49 54839 genome.wustl.edu 37 15 71341895 71341895 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017691.2 +1 validated p.R669C 0.979 260 0% 186 24.2% 5 20% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL MYO9A 4649 genome.wustl.edu 37 15 72190034 72190034 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006901.2 -1 validated p.F1604V 1.000 138 0% 174 29.9% 1 0% benign(0.156) deleterious(0) neutral(0.459) NULL MYO9A 4649 genome.wustl.edu 37 15 72190967 72190967 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006901.2 -1 validated p.R1293C 1.000 299 0% 351 25.4% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NEO1 4756 genome.wustl.edu 37 15 73551136 73551136 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002499.3 +1 validated p.R708* 1.000 138 0.7% 134 32.1% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NEO1 4756 genome.wustl.edu 37 15 73575356 73575356 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002499.3 +1 validated p.L1105P 1.000 681 0% 481 33.1% 7 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Neogenin_C HCN4 10021 genome.wustl.edu 37 15 73616252 73616252 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005477.2 -1 reviewed p.D728N 1.000 46 0% 39 33.3% 0 - benign(0.202) deleterious(0.03) neutral(0.384) NULL HCN4 10021 genome.wustl.edu 37 15 73635748 73635748 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005477.2 -1 reviewed p.R396Q 1.000 50 0% 37 24.3% 0 - probably_damaging(0.955) deleterious(0.03) deleterious(0.763) HMMPfam_Ion_trans,superfamily_SSF81324 HCN4 10021 genome.wustl.edu 37 15 73635992 73635992 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005477.2 -1 reviewed p.R315C 1.000 80 0% 62 29% 0 - possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) HMMPfam_Ion_trans,superfamily_SSF81324 TBC1D21 161514 genome.wustl.edu 37 15 74177371 74177371 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153356.1 +1 provisional p.M169T 1.000 160 0% 152 32.9% 0 - benign(0) deleterious(0) neutral(0.445) HMMSmart_TBC,superfamily_RabGAP_TBC ISLR 3671 genome.wustl.edu 37 15 74467459 74467459 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005545.3 +1 validated p.R87H 0.319 76 0% 76 25% 188 1.5% probably_damaging(0.995) tolerated(0.13) deleterious(0.710) superfamily_SSF52058 CCDC33 80125 genome.wustl.edu 37 15 74572367 74572367 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025055.3 +1 validated p.R275* 0.189 44 0% 43 44.2% 0 - - - - NULL CLK3 1198 genome.wustl.edu 37 15 74918195 74918195 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130028.1 +1 reviewed p.A383T 1.000 145 0% 103 33% 57 50.8% benign(0.002) deleterious(0.04) neutral(0.349) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CLK3 1198 genome.wustl.edu 37 15 74919894 74919894 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130028.1 +1 reviewed p.K457N 1.000 195 0% 125 29.6% 52 38.4% possibly_damaging(0.72) tolerated(0.08) deleterious(0.561) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CYP1A1 1543 genome.wustl.edu 37 15 75014717 75014717 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000499.3 -1 reviewed p.R241H 0.974 67 0% 56 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 LOC646791 646791 genome.wustl.edu 37 15 75614340 75614340 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_017650.3 -1 model NULL 0.028 89 0% 93 29% 0 - - - - - PTPN9 5780 genome.wustl.edu 37 15 75798200 75798200 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002833.2 -1 reviewed p.D262N 1.000 127 0% 93 34.4% 11 36.3% possibly_damaging(0.744) deleterious(0.01) deleterious(0.679) HMMPfam_CRAL_TRIO,superfamily_CRAL_TRIO_C SNUPN 10073 genome.wustl.edu 37 15 75902273 75902273 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042581.1 -1 reviewed p.V122 0.987 118 0% 152 30.9% 14 42.8% - - - NULL CSPG4 1464 genome.wustl.edu 37 15 75978010 75978010 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001897.4 -1 reviewed p.I1274 0.715 4 0.000 7 0.714 2 0% - - - NULL UBE2Q2 92912 genome.wustl.edu 37 15 76183284 76183284 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173469.2 +1 validated p.E320* 1.000 152 0% 131 22.1% 17 0% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like SCAPER 49855 genome.wustl.edu 37 15 77134166 77134166 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020843.2 -1 validated p.R100Q 1.000 197 0% 175 20% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SCAPER 49855 genome.wustl.edu 37 15 77154845 77154845 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020843.2 -1 validated p.D11E 1.000 94 0% 89 28.1% 1 0% possibly_damaging(0.704) tolerated(0.79) neutral(0.255) NULL HMG20A 10363 genome.wustl.edu 37 15 77759491 77759491 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018200.2 +1 provisional p.R98* 1.000 255 0% 185 29.2% 13 0% - - - superfamily_HMG-box ACSBG1 23205 genome.wustl.edu 37 15 78486360 78486360 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015162.3 -1 reviewed p.L152 0.964 23 0% 20 40% 0 - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like DNAJA4 55466 genome.wustl.edu 37 15 78566680 78566680 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018602.3 +1 validated p.R216H 1.000 29 0% 40 20% 3 0% benign(0.085) tolerated(0.26) neutral(0.040) HMMPfam_DnaJ_CXXCXGXG,superfamily_HSP_DnaJ_cys-rich,superfamily_HSP40_DnaJ_pep IREB2 3658 genome.wustl.edu 37 15 78786553 78786553 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004136.2 +1 validated p.K848Q 1.000 397 0% 395 32.4% 10 60% possibly_damaging(0.49) tolerated(0.06) deleterious(0.486) HMMPfam_Aconitase_C,superfamily_Aconitase AGPHD1 123688 genome.wustl.edu 37 15 78807408 78807408 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013619.2 +1 validated p.E146* 1.000 89 0% 52 25% 7 0% - - - HMMPfam_APH,superfamily_Protein kinase-like (PK-like) CHRNB4 1143 genome.wustl.edu 37 15 78923429 78923429 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000750.3 -1 validated p.V116 1.000 172 0% 187 29.4% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD RASGRF1 5923 genome.wustl.edu 37 15 79350700 79350700 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002891.4 -1 reviewed p.I169 0.192 211 0% 256 41.8% 0 - - - - NULL KIAA1024 23251 genome.wustl.edu 37 15 79748604 79748604 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015206.2 +1 validated p.D39N 1.000 166 0% 185 25.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAH 2184 genome.wustl.edu 37 15 80452147 80452147 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000137.1 +1 reviewed p.A81V 0.977 102 0% 84 25% 18 38.8% benign(0.021) tolerated(1) neutral(0.001) HMMPfam_DUF1969,superfamily_Fumarylacetoacetate hydrolase FAH N-terminal domain KIAA1199 57214 genome.wustl.edu 37 15 81221382 81221382 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018689.1 +1 validated p.D827N 1.000 159 0% 131 29.8% 16 37.5% benign(0.148) tolerated(0.15) neutral(0.254) NULL KIAA1199 57214 genome.wustl.edu 37 15 81230194 81230194 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018689.1 +1 validated p.S1094L 1.000 134 0% 82 40.2% 20 45% probably_damaging(0.998) tolerated(0.59) deleterious(0.479) NULL C15orf26 161502 genome.wustl.edu 37 15 81428907 81428907 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173528.2 +1 predicted p.V70 0.991 147 0% 133 21.8% 0 - - - - NULL C15orf26 161502 genome.wustl.edu 37 15 81440202 81440202 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173528.2 +1 predicted p.N214D 0.984 62 0% 56 30.4% 0 - probably_damaging(0.953) deleterious(0.05) deleterious(0.742) NULL IL16 3603 genome.wustl.edu 37 15 81592616 81592616 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172217.3 +1 reviewed p.K983N 0.011 86 0% 97 44.3% 3 0% possibly_damaging(0.72) tolerated(0.22) neutral(0.303) NULL TMC3 342125 genome.wustl.edu 37 15 81624904 81624904 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080532.1 -1 provisional p.Q1053H 0.687 35 0% 30 20% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMC3 342125 genome.wustl.edu 37 15 81625389 81625389 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080532.1 -1 provisional p.E892* 0.960 144 0% 103 31.1% 0 - - - - NULL TMC3 342125 genome.wustl.edu 37 15 81633820 81633820 + Silent SNP G G A rs192774115 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080532.1 -1 provisional p.N585 0.944 29 0% 23 26.1% 0 - - - - HMMPfam_TMC TMC3 342125 genome.wustl.edu 37 15 81660658 81660658 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080532.1 -1 provisional p.N83S 1.000 207 0% 176 34.1% 0 - benign(0) tolerated(0.33) neutral(0.024) NULL FAM154B 283726 genome.wustl.edu 37 15 82564057 82564057 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008226.1 +1 predicted p.S56L 0.633 240 0% 243 32.9% 0 - benign(0.059) tolerated(0.15) neutral(0.245) NULL AP3B2 8120 genome.wustl.edu 37 15 83330652 83330652 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004644.3 -1 validated p.V962I 0.999 65 0% 52 23.1% 3 0% unknown(0) tolerated(0.14) - NULL AP3B2 8120 genome.wustl.edu 37 15 83346110 83346110 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004644.3 -1 validated p.V468 0.192 31 0% 44 18.2% 1 100% - - - HMMPfam_Adaptin_N,superfamily_ARM-type_fold FAM103A1 83640 genome.wustl.edu 37 15 83657831 83657831 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031452.2 +1 predicted p.E21* 0.981 140 0% 110 20.9% 46 10.8% - - - NULL FAM103A1 83640 genome.wustl.edu 37 15 83657925 83657925 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031452.2 +1 predicted p.R52I 1.000 79 0% 88 28.4% 33 18.1% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL BNC1 646 genome.wustl.edu 37 15 83936886 83936886 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001717.3 -1 reviewed p.H66 0.620 174 0% 146 27.4% 0 - - - - NULL SH3GL3 6457 genome.wustl.edu 37 15 84228050 84228050 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003027.3 +1 validated p.D31N 1.000 94 0% 81 34.6% 0 - possibly_damaging(0.557) deleterious(0.04) deleterious(0.539) HMMPfam_BAR,HMMSmart_SM00721 ALPK3 57538 genome.wustl.edu 37 15 85399777 85399777 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020778.4 +1 validated p.R805I 0.001 153 0% 143 29.4% 0 - possibly_damaging(0.912) deleterious(0) deleterious(0.808) NULL ALPK3 57538 genome.wustl.edu 37 15 85405882 85405882 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020778.4 +1 validated p.E1584 1.000 110 0% 103 24.3% 0 - - - - superfamily_Protein kinase-like (PK-like) AKAP13 11214 genome.wustl.edu 37 15 86123527 86123527 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006738.4 +1 reviewed p.R743Q 0.012 233 0% 263 27% 3 100% benign(0.139) tolerated(0.06) neutral(0.335) NULL KLHL25 64410 genome.wustl.edu 37 15 86312711 86312711 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022480.3 -1 validated p.A111T 1.000 37 0% 33 57.6% 5 40% benign(0) tolerated(0.8) neutral(0.001) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB NTRK3 4916 genome.wustl.edu 37 15 88669548 88669548 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012338.1 -1 reviewed p.F450 0.328 197 0% 157 25.5% 0 - - - - NULL DET1 55070 genome.wustl.edu 37 15 89056262 89056262 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017996.3 -1 validated p.F536V 0.999 85 0% 70 37.1% 7 14.2% benign(0.123) tolerated(0.57) neutral(0.016) HMMPfam_Det1 DET1 55070 genome.wustl.edu 37 15 89074569 89074569 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017996.3 -1 validated p.R134H 1.000 81 0% 83 37.3% 4 100% probably_damaging(0.978) tolerated(0.11) deleterious(0.692) NULL ISG20 3669 genome.wustl.edu 37 15 89182806 89182806 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002201.4 +1 provisional p.F70C 0.729 53 0% 34 32.4% 107 51.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00479,superfamily_Ribonuclease H-like,HMMPfam_Exonuc_X-T ACAN 176 genome.wustl.edu 37 15 89398608 89398608 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013227.3 +1 reviewed p.T931I 0.002 70 0% 54 25.9% 1 0% benign(0.188) tolerated(0.57) neutral(0.024) NULL ACAN 176 genome.wustl.edu 37 15 89400255 89400255 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013227.3 +1 reviewed p.S1365Y 0.001 199 0% 151 31.8% 2 0% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL MFGE8 4240 genome.wustl.edu 37 15 89449889 89449889 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005928.2 -1 validated p.D170N 0.620 99 0% 103 27.2% 711 50.2% benign(0.039) tolerated(0.38) neutral(0.020) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like FANCI 55215 genome.wustl.edu 37 15 89857912 89857912 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113378.1 +1 reviewed p.L1264I 1.000 248 0.4% 243 30.9% 31 35.4% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL RHCG 51458 genome.wustl.edu 37 15 90039635 90039635 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016321.1 -1 provisional p.K47N 0.000 76 0% 67 31.3% 0 - benign(0.001) tolerated(0.57) neutral(0.006) HMMPfam_Ammonium_transp WDR93 56964 genome.wustl.edu 37 15 90245149 90245149 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020212.1 +1 provisional p.R58* 0.895 103 0% 143 31.5% 1 0% - - - NULL ZNF710 374655 genome.wustl.edu 37 15 90611131 90611131 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198526.2 +1 validated p.F254 0.001 42 0% 33 33.3% 6 66.6% - - - NULL IDH2 3418 genome.wustl.edu 37 15 90628303 90628303 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002168.2 -1 reviewed p.A370T 1.000 95 0% 83 10.8% 501 18.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like C15orf58 390637 genome.wustl.edu 37 15 90784179 90784179 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013657.2 +1 validated p.L13 0.997 197 0% 193 30.1% 7 28.5% - - - NULL BLM 641 genome.wustl.edu 37 15 91337524 91337524 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000057.2 +1 reviewed p.G1049 0.982 45 0% 59 35.6% 8 75% - - - superfamily_SSF52540 FES 2242 genome.wustl.edu 37 15 91432628 91432628 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002005.3 +1 reviewed p.R254H 0.850 45 0% 27 59.3% 22 40.9% possibly_damaging(0.942) tolerated(0.11) deleterious(0.659) NULL SLCO3A1 28232 genome.wustl.edu 37 15 92671715 92671715 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013272.3 +1 validated p.S503I 1.000 229 0% 193 25.4% 6 0% unknown(0) - - HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors SLCO3A1 28232 genome.wustl.edu 37 15 92690282 92690282 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013272.3 +1 validated p.C527 1.000 223 0% 215 29.8% 17 5.8% unknown(0) - - HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors CHD2 1106 genome.wustl.edu 37 15 93498737 93498737 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001271.3 +1 reviewed p.D602Y 1.000 38 0% 32 21.9% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases MCTP2 55784 genome.wustl.edu 37 15 94942189 94942189 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018349.3 +1 validated e14-1 1.000 161 0% 127 29.9% 0 - - - - - MCTP2 55784 genome.wustl.edu 37 15 95013626 95013626 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018349.3 +1 validated p.I809V 0.055 253 0% 191 24.6% 0 - benign(0) tolerated(1) - NULL MCTP2 55784 genome.wustl.edu 37 15 95013638 95013638 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018349.3 +1 validated p.F813V 1.000 238 0% 185 39.5% 0 - possibly_damaging(0.671) deleterious(0.02) deleterious(0.621) NULL IGF1R 3480 genome.wustl.edu 37 15 99456486 99456486 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000875.3 +1 reviewed p.I601 0.998 152 0% 105 23.8% 5 40% - - - superfamily_FN_III-like SYNM 23336 genome.wustl.edu 37 15 99669930 99669930 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000336292 +1 known p.R454S 0.001 105 0% 103 35% 1 100% benign(0) tolerated(0.87) neutral(0.001) NULL SYNM 23336 genome.wustl.edu 37 15 99673110 99673110 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145728.2 +1 reviewed p.P1515H 0.125 153 0% 133 35.3% 0 - - - - NULL LRRC28 123355 genome.wustl.edu 37 15 99874025 99874025 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000450058 +1 known p.A7T 0.000 27 0% 21 33.3% 0 - - - - NULL ENSG00000214394 0 genome.wustl.edu 37 15 100332468 100332468 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398270 +1 known p.R56Q 1.000 81 0% 104 31.7% 0 - - - - NULL ADAMTS17 170691 genome.wustl.edu 37 15 100533343 100533343 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139057.2 -1 reviewed p.G953 0.993 54 0% 62 33.9% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS17 170691 genome.wustl.edu 37 15 100594183 100594183 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139057.2 -1 reviewed p.G738 0.987 463 0% 387 30.5% 0 - - - - HMMPfam_ADAM_spacer1 CERS3 204219 genome.wustl.edu 37 15 101020246 101020246 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178842.3 -1 validated p.R138K 1.000 162 0% 141 26.2% 0 - possibly_damaging(0.924) tolerated(0.07) deleterious(0.692) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724,superfamily_Homeodomain-like LINS 55180 genome.wustl.edu 37 15 101115223 101115223 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040614.1 -1 reviewed p.E200D 1.000 217 0% 191 27.2% 2 50% possibly_damaging(0.738) tolerated(0.35) neutral(0.291) NULL ASB7 140460 genome.wustl.edu 37 15 101152580 101152580 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198243.2 +1 reviewed p.F53L 1.000 150 0% 101 35.6% 0 - benign(0.001) tolerated(0.24) neutral(0.037) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ALDH1A3 220 genome.wustl.edu 37 15 101432746 101432746 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000693.2 +1 reviewed p.F126C 0.999 89 0% 64 26.6% 5 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH ALDH1A3 220 genome.wustl.edu 37 15 101447434 101447434 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000693.2 +1 reviewed p.L448I 0.600 235 0% 194 25.8% 8 0% benign(0.008) tolerated(1) - HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH LRRK1 79705 genome.wustl.edu 37 15 101565169 101565169 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024652.3 +1 validated p.I743 0.875 100 0% 70 31.4% 4 0% - - - HMMPfam_Miro,superfamily_P-loop containing nucleoside triphosphate hydrolases PCSK6 5046 genome.wustl.edu 37 15 101853585 101853585 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000331826 -1 known p.R898* 0.930 7 0.000 20 0.550 0 - - - - NULL TARSL2 123283 genome.wustl.edu 37 15 102249050 102249050 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152334.2 -1 validated p.K292 1.000 151 0% 142 28.9% 5 20% - - - superfamily_ThrRS/AlaRS common domain OR4F15 390649 genome.wustl.edu 37 15 102358598 102358598 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001674.1 +1 provisional p.D70A 0.986 825 0% 691 27.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4F4 26682 genome.wustl.edu 37 15 102462415 102462415 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004195.2 -1 provisional p.R283M 0.985 1398 0% 1375 16.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 AXIN1 8312 genome.wustl.edu 37 16 343707 343707 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003502.2 -1 reviewed p.T656M 0.002 6 0.000 9 0.556 35 31.4% benign(0.004) tolerated(0.17) neutral(0.059) NULL TPSD1 23430 genome.wustl.edu 37 16 1308189 1308189 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012217.2 +1 reviewed p.L217P 1.000 10 0% 13 61.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TELO2 9894 genome.wustl.edu 37 16 1544360 1544360 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016111.3 +1 reviewed p.G26 0.000 67 0% 45 28.9% 17 47% - - - NULL C16orf79 283870 genome.wustl.edu 37 16 2260805 2260805 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182563.2 -1 provisional p.R10 0.000 11 0% 10 40% 0 - - - - NULL CCNF 899 genome.wustl.edu 37 16 2481197 2481197 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001761.2 +1 reviewed p.R28Q 0.991 133 0% 93 31.2% 4 100% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_SSF81383 CCNF 899 genome.wustl.edu 37 16 2506569 2506569 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001761.2 +1 reviewed p.D637N 0.857 13 0% 15 40% 15 26.6% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL PRSS27 83886 genome.wustl.edu 37 16 2765854 2765854 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031948.3 -1 validated p.R34Q 1.000 8 0.000 14 0.286 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SRRM2 23524 genome.wustl.edu 37 16 2815145 2815145 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016333.3 +1 validated p.S1539L 0.984 494 0% 450 30.9% 36 36.1% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2815891 2815891 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016333.3 +1 validated p.R1788* 0.876 108 0% 121 16.5% 63 6.3% - - - NULL THOC6 79228 genome.wustl.edu 37 16 3076099 3076099 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024339.3 +1 validated p.D86N 0.975 99 1% 88 31.8% 27 29.6% possibly_damaging(0.948) deleterious(0.04) deleterious(0.740) HMMSmart_SM00320,superfamily_WD40 repeat-like THOC6 79228 genome.wustl.edu 37 16 3077604 3077604 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024339.3 +1 validated p.C324 0.936 54 0% 40 17.5% 83 40.9% - - - superfamily_WD40 repeat-like MEFV 4210 genome.wustl.edu 37 16 3304262 3304262 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000243.2 -1 reviewed p.A269V 0.000 154 0% 132 30.3% 0 - benign(0) tolerated(0.09) neutral(0.296) NULL OR2C1 4993 genome.wustl.edu 37 16 3406813 3406813 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012368.2 +1 validated p.T291 0.982 116 0% 124 29.8% 0 - - - - superfamily_Family A G protein-coupled receptor-like ZNF434 54925 genome.wustl.edu 37 16 3433363 3433363 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017810.2 -1 provisional p.K316T 0.975 207 0% 191 34.6% 7 57.1% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF174 7727 genome.wustl.edu 37 16 3458703 3458703 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003450.2 +1 validated p.T336 0.000 117 0% 130 23.8% 5 20% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NAA60 79903 genome.wustl.edu 37 16 3533456 3533456 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083600.1 +1 validated p.N144S 1.000 58 0% 45 28.9% 49 26.5% benign(0) tolerated(0.45) neutral(0.012) HMMPfam_Acetyltransf_1,superfamily_Acyl_CoA_acyltransferase NLRC3 197358 genome.wustl.edu 37 16 3599183 3599183 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178844.2 -1 validated p.I854 0.066 20 0% 19 31.6% 0 - - - - HMMSmart_SM00368,superfamily_RNI-like SLX4 84464 genome.wustl.edu 37 16 3656624 3656624 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032444.2 -1 provisional p.R204H 0.989 95 0% 114 41.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CREBBP 1387 genome.wustl.edu 37 16 3790499 3790499 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004380.2 -1 reviewed p.F1345C 1.000 78 0% 43 37.2% 5 40% unknown(0) deleterious(0) - HMMPfam_DUF906 CREBBP 1387 genome.wustl.edu 37 16 3820743 3820743 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004380.2 -1 reviewed p.P903H 0.999 74 0% 64 10.9% 11 9% unknown(0) deleterious(0.01) - NULL ADCY9 115 genome.wustl.edu 37 16 4016880 4016880 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001116.2 -1 reviewed p.F986L 1.000 104 0% 91 30.8% 12 33.3% benign(0) tolerated(0.8) neutral(0.001) NULL ADCY9 115 genome.wustl.edu 37 16 4164464 4164464 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001116.2 -1 reviewed p.K327T 1.000 65 0% 99 23.2% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMSmart_SM00044 C16orf89 146556 genome.wustl.edu 37 16 5097883 5097883 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152459.3 -1 validated p.F355 0.886 43 0% 40 27.5% 7 28.5% - - - NULL ENSG00000221809 0 genome.wustl.edu 37 16 5313263 5313263 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000408882 -1 novel NULL 0.050 165 0% 176 31.8% 0 - - - - - RBFOX1 54715 genome.wustl.edu 37 16 7645640 7645640 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145891.2 +1 reviewed p.I206 1.000 217 0% 174 25.9% 0 - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 ABAT 18 genome.wustl.edu 37 16 8866748 8866748 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000663.4 +1 reviewed p.R310W 0.999 55 0% 54 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major LOC100132944 100132944 genome.wustl.edu 37 16 8942602 8942602 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001716801.2 -1 model p.R75H 0.000 2 0.000 4 1.000 54 29.6% - - - NULL USP7 7874 genome.wustl.edu 37 16 8994476 8994476 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003470.2 -1 validated p.P740 1.000 108 0% 68 22.1% 65 44.6% - - - NULL GRIN2A 2903 genome.wustl.edu 37 16 9923375 9923375 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000833.3 -1 reviewed p.A638T 1.000 168 0% 196 26% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GRIN2A 2903 genome.wustl.edu 37 16 10274158 10274158 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000833.3 -1 reviewed p.A37 0.960 49 0% 55 29.1% 0 - - - - superfamily_Periplasmic binding protein-like I TEKT5 146279 genome.wustl.edu 37 16 10721541 10721541 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144674.1 -1 provisional p.E453K 1.000 28 0% 39 35.9% 0 - possibly_damaging(0.594) deleterious(0.01) deleterious(0.611) HMMPfam_Tektin FAM18A 780776 genome.wustl.edu 37 16 10867973 10867973 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079512.2 -1 predicted p.R83 0.989 32 0% 32 34.4% 0 - - - - HMMPfam_DUF846 TXNDC11 51061 genome.wustl.edu 37 16 11778094 11778094 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015914.5 -1 provisional p.V721M 1.000 64 0% 48 29.2% 34 32.3% possibly_damaging(0.637) tolerated(0.09) deleterious(0.519) superfamily_Thiordxn-like_fd RSL1D1 26156 genome.wustl.edu 37 16 11933603 11933603 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015659.2 -1 validated p.I365 0.835 317 0% 346 24.9% 148 46.6% - - - NULL RSL1D1 26156 genome.wustl.edu 37 16 11944198 11944198 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015659.2 -1 validated p.N61K 0.467 95 0% 105 25.7% 48 52% benign(0.177) tolerated(0.16) neutral(0.076) superfamily_Ribosomal protein L1 CPPED1 55313 genome.wustl.edu 37 16 12798557 12798557 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018340.2 -1 validated p.I213 0.001 145 0.7% 159 25.2% 10 0% - - - HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases ERCC4 2072 genome.wustl.edu 37 16 14029423 14029433 + Frame_Shift_Del DEL GAATCCTGAAA GAATCCTGAAA - novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 GAATCCTGAAA GAATCCTGAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005236.2 +1 reviewed p.I546fs 0.998:0.092:0.313:0.823:0.805:0.879:0.917:0.885:0.999:1.000:1.000 - - - - - - - - - NULL NOMO1 23420 genome.wustl.edu 37 16 14983045 14983045 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014287.3 +1 reviewed p.K1139 0.995 659 0% 577 25.5% 164 20.1% - - - NULL NTAN1 123803 genome.wustl.edu 37 16 15141763 15141763 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173474.2 -1 provisional p.L67M 1.000 625 0% 522 30.5% 22 22.7% possibly_damaging(0.946) tolerated(0.17) neutral(0.449) NULL RRN3 54700 genome.wustl.edu 37 16 15164990 15164990 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018427.3 -1 validated p.F416C 1.000 271 0.4% 229 31% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRN3 KIAA0430 9665 genome.wustl.edu 37 16 15698057 15698057 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014647.3 -1 validated p.E1461K 1.000 289 0% 289 31.5% 6 66.6% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL MYH11 4629 genome.wustl.edu 37 16 15814759 15814759 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040114.1 -1 reviewed p.F1583 0.630 205 0% 192 44.8% 14 0% - - - HMMPfam_Myosin_tail_1 MYH11 4629 genome.wustl.edu 37 16 15841986 15841986 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040114.1 -1 reviewed p.R707W 1.000 129 0.8% 145 44.1% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH11 4629 genome.wustl.edu 37 16 15870006 15870006 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040114.1 -1 reviewed p.R280H 1.000 334 0% 246 26.8% 5 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 ABCC6 368 genome.wustl.edu 37 16 16253370 16253370 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001171.5 -1 reviewed p.R1235Q 1.000 43 0% 49 30.6% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain SMG1 23049 genome.wustl.edu 37 16 18827667 18827667 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015092.4 -1 reviewed p.R3420Q 1.000 92 1.1% 86 27.9% 3 66.6% probably_damaging(0.989) tolerated(0.16) deleterious(0.499) NULL SMG1 23049 genome.wustl.edu 37 16 18840997 18840997 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015092.4 -1 reviewed p.C3072G 1.000 134 0% 93 30.1% 1 100% benign(0.082) deleterious(0.02) neutral(0.389) NULL SMG1 23049 genome.wustl.edu 37 16 18841544 18841544 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015092.4 -1 reviewed p.E2980D 1.000 88 0% 81 38.3% 2 100% benign(0.001) tolerated(0.59) neutral(0.004) NULL SMG1 23049 genome.wustl.edu 37 16 18853679 18853679 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015092.4 -1 reviewed p.E2106G 1.000 108 0% 105 31.4% 2 0% benign(0.094) tolerated(0.17) neutral(0.066) superfamily_Protein kinase-like (PK-like) TMC7 79905 genome.wustl.edu 37 16 19020669 19020669 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024847.3 +1 validated p.I81 0.000 306 0% 212 33.5% 3 66.6% - - - NULL GDE1 51573 genome.wustl.edu 37 16 19516399 19516399 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016641.3 -1 validated p.R218W 0.995 172 0% 212 33% 63 42.8% probably_damaging(0.963) deleterious(0.01) deleterious(0.811) HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl CCP110 9738 genome.wustl.edu 37 16 19553358 19553358 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014711.4 +1 validated p.S733 0.262 228 0% 218 26.6% 1 0% - - - NULL GPR139 124274 genome.wustl.edu 37 16 20043219 20043219 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002911.2 -1 validated p.L300 1.000 165 0% 157 36.9% 0 - - - - superfamily_Family A G protein-coupled receptor-like UMOD 7369 genome.wustl.edu 37 16 20352411 20352411 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008389.1 -1 reviewed e6+2 0.935 32 0% 53 32.1% 0 - - - - - ACSM2B 348158 genome.wustl.edu 37 16 20566602 20566602 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105069.1 -1 validated p.K195N 0.019 795 0% 645 12.1% 0 - benign(0.01) tolerated(0.36) neutral(0.021) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM3 6296 genome.wustl.edu 37 16 20787169 20787169 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005622.3 +1 validated p.K76N 1.000 270 0% 215 27.4% 0 - possibly_damaging(0.942) tolerated(0.16) neutral(0.447) superfamily_Acetyl-CoA synthetase-like ERI2 112479 genome.wustl.edu 37 16 20802174 20802174 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080663.2 -1 validated p.F271 0.000 123 0% 98 36.7% 0 - - - - NULL ACSM3 6296 genome.wustl.edu 37 16 20803441 20803441 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005622.3 +1 validated p.L482 1.000 235 0% 154 29.9% 5 20% - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM3 6296 genome.wustl.edu 37 16 20803563 20803563 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005622.3 +1 validated p.R487Q 1.000 373 0.3% 225 33.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like DNAH3 55567 genome.wustl.edu 37 16 20946730 20946730 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017539.1 -1 provisional p.V3979 0.995 140 0% 106 27.4% 0 - - - - HMMPfam_Dynein_heavy DNAH3 55567 genome.wustl.edu 37 16 20999312 20999312 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017539.1 -1 provisional p.S2226L 0.356 197 0% 162 40.1% 0 - possibly_damaging(0.623) tolerated(0.12) deleterious(0.478) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21014473 21014473 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017539.1 -1 provisional p.T2027A 1.000 262 0% 296 26.4% 0 - benign(0.018) tolerated(0.92) neutral(0.001) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21145684 21145684 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017539.1 -1 provisional p.P326 0.990 267 0% 339 30.4% 0 - - - - NULL POLR3E 55718 genome.wustl.edu 37 16 22335726 22335726 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018119.2 +1 validated p.V374M 0.989 92 0% 41 34.1% 22 31.8% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_Sin_N HS3ST2 9956 genome.wustl.edu 37 16 22926579 22926579 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006043.1 +1 reviewed p.A267V 0.908 387 0% 413 31.2% 0 - benign(0.221) tolerated(0.06) neutral(0.345) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 USP31 57478 genome.wustl.edu 37 16 23119490 23119490 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020718.3 -1 validated p.K216N 1.000 154 0% 86 32.6% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_UCH,superfamily_Cysteine proteinases SCNN1B 6338 genome.wustl.edu 37 16 23366722 23366722 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000336.2 +1 reviewed p.V230M 1.000 92 0% 105 29.5% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_ASC COG7 91949 genome.wustl.edu 37 16 23428365 23428365 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153603.3 -1 reviewed p.A405 0.036 98 0% 89 28.1% 9 33.3% - - - HMMPfam_COG7 GGA2 23062 genome.wustl.edu 37 16 23497460 23497460 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015044.4 -1 reviewed p.S225L 0.590 107 0% 103 34% 24 16.6% possibly_damaging(0.907) tolerated(0.46) neutral(0.372) HMMPfam_GAT,superfamily_SSF89009 EARS2 124454 genome.wustl.edu 37 16 23535717 23535717 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083614.1 -1 provisional p.R516Q 0.999 170 0% 170 14.7% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_tRNA-synt_bind PLK1 5347 genome.wustl.edu 37 16 23700947 23700947 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005030.3 +1 provisional p.A520T 1.000 41 0% 41 29.3% 98 43.8% possibly_damaging(0.937) deleterious(0) deleterious(0.828) HMMPfam_POLO_box,superfamily_SSF82615 ERN2 10595 genome.wustl.edu 37 16 23713990 23713990 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033266.3 -1 validated p.G344 0.985 139 0% 125 24% 3 0% - - - NULL CHP2 63928 genome.wustl.edu 37 16 23768619 23768619 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022097.2 +1 provisional p.A171V 0.983 90 0% 112 37.5% 0 - benign(0.091) tolerated(0.47) neutral(0.017) HMMSmart_SM00054,PatternScan_EF_HAND_1,superfamily_EF-hand RBBP6 5930 genome.wustl.edu 37 16 24574599 24574599 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006910.4 +1 reviewed p.A457T 0.998 353 0% 325 30.5% 1 100% unknown(0) - - NULL RBBP6 5930 genome.wustl.edu 37 16 24580274 24580274 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006910.4 +1 reviewed p.R755* 1.000 117 0% 142 14.1% 5 0% - - - NULL RBBP6 5930 genome.wustl.edu 37 16 24580461 24580461 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006910.4 +1 reviewed p.D817A 1.000 150 0% 173 28.9% 2 50% probably_damaging(0.999) - - NULL RBBP6 5930 genome.wustl.edu 37 16 24582941 24582941 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006910.4 +1 reviewed p.E1518D 0.999 184 0% 173 30.1% 7 28.5% probably_damaging(0.971) deleterious(0.01) deleterious(0.819) NULL ARHGAP17 55114 genome.wustl.edu 37 16 24971241 24971241 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001006634.1 -1 validated p.F211L 0.998 220 0% 212 26.4% 17 52.9% benign(0.004) tolerated(0.45) neutral(0.012) HMMPfam_BAR,HMMSmart_SM00721 ARHGAP17 55114 genome.wustl.edu 37 16 24980032 24980032 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001006634.1 -1 validated p.E112K 1.000 270 0% 205 33.2% 13 15.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BAR,HMMSmart_SM00721 AQP8 343 genome.wustl.edu 37 16 25235781 25235781 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001169.2 +1 reviewed p.I162 0.957 41 0% 33 45.5% 0 - - - - HMMPfam_MIP,superfamily_MIP ZKSCAN2 342357 genome.wustl.edu 37 16 25266548 25266548 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012981.4 -1 validated p.R189C 0.002 81 0% 52 32.7% 1 0% benign(0.023) deleterious(0.03) neutral(0.365) NULL C16orf82 162083 genome.wustl.edu 37 16 27078644 27078644 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145545.1 +1 validated p.R110W 0.000 24 0% 24 16.7% 0 - - - - NULL JMJD5 79831 genome.wustl.edu 37 16 27226253 27226253 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145348.1 +1 reviewed p.S279L 1.000 79 0% 45 22.2% 1 0% benign(0.106) tolerated(0.1) neutral(0.294) superfamily_SSF51197 IL4R 3566 genome.wustl.edu 37 16 27374931 27374931 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000418.2 +1 reviewed p.S753L 0.000 97 0% 68 13.2% 6 0% benign(0.001) tolerated(0.09) neutral(0.296) NULL IL21R 50615 genome.wustl.edu 37 16 27454356 27454356 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021798.2 +1 reviewed p.Y142 0.018 129 0% 129 31.8% 3 0% - - - superfamily_Fibronectin type III GTF3C1 2975 genome.wustl.edu 37 16 27539931 27539931 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001520.3 -1 validated p.K321E 1.000 467 0% 453 33.3% 12 8.3% probably_damaging(0.996) tolerated(0.89) neutral(0.462) HMMPfam_B-block_TFIIIC KIAA0556 23247 genome.wustl.edu 37 16 27720130 27720130 + Silent SNP C C T rs185968091 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015202.2 +1 validated p.V498 0.121 102 0% 101 52.5% 5 20% - - - superfamily_Galactose-binding domain-like ENSG00000196585 0 genome.wustl.edu 37 16 28426220 28426220 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000357646 +1 known p.I155 0.616 75 0% 71 39.4% 0 - - - - HMMPfam_CDC37_C RABEP2 79874 genome.wustl.edu 37 16 28925593 28925593 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024816.2 -1 validated p.L286 0.036 19 0% 12 50% 10 40% - - - NULL RRN3P2 653390 genome.wustl.edu 37 16 29098689 29098689 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000219758 +1 known p.K210T 1.000 78 0% 76 35.5% 4 0% unknown(0) - - NULL QPRT 23475 genome.wustl.edu 37 16 29708709 29708709 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014298.3 +1 reviewed p.A291T 0.000 62 1.6% 55 41.8% 92 32.6% benign(0) tolerated(0.71) neutral(0.002) NULL MVP 9961 genome.wustl.edu 37 16 29845106 29845106 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005115.3 +1 reviewed p.A125V 1.000 81 0% 82 24.4% 182 35.1% probably_damaging(0.986) tolerated(0.1) deleterious(0.721) HMMPfam_Vault TAOK2 9344 genome.wustl.edu 37 16 29989126 29989126 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016151.2 +1 validated p.K11N 1.000 157 0% 134 33.6% 20 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPP4C 5531 genome.wustl.edu 37 16 30094139 30094139 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002720.1 +1 provisional p.E92K 1.000 84 0% 67 35.8% 265 33.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases STX1B 112755 genome.wustl.edu 37 16 31004717 31004717 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052874.3 -1 validated p.R209H 0.998 126 0% 101 34.7% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_SNARE,HMMSmart_SM00397,PatternScan_SYNTAXIN,superfamily_t-snare proteins LOC100288951 100288951 genome.wustl.edu 37 16 31173795 31173795 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343469.1 +1 model p.E60D 1.000 68 0% 92 26.1% 0 - - - - HMMPfam_Ribosomal_L38e ITGAM 3684 genome.wustl.edu 37 16 31341692 31341692 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000632.3 +1 reviewed p.E1042* 0.000 269 0% 236 31.8% 10 0% - - - NULL ITGAX 3687 genome.wustl.edu 37 16 31391864 31391864 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000887.3 +1 reviewed p.S1065 0.000 55 0% 61 18% 10 0% - - - NULL C16orf58 64755 genome.wustl.edu 37 16 31504904 31504904 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000430477 -1 known p.L184 0.007 25 0% 22 18.2% 0 - - - - HMMPfam_DUF647 ZNF267 10308 genome.wustl.edu 37 16 31925807 31925807 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003414.4 +1 validated p.S79 0.160 146 0% 139 12.9% 3 0% - - - NULL ZNF267 10308 genome.wustl.edu 37 16 31926190 31926190 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003414.4 +1 validated p.R207Q 0.023 151 0% 157 26.8% 6 50% benign(0) tolerated(0.52) neutral(0.009) NULL ZNF267 10308 genome.wustl.edu 37 16 31927374 31927374 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003414.4 +1 validated p.K602Q 1.000 138 0% 126 25.4% 5 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_C2H2 and C2HC zinc fingers LOC100132941 100132941 genome.wustl.edu 37 16 33006541 33006541 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001718037.2 +1 model p.Q22P 0.997 325 0% 217 25.3% 0 - possibly_damaging(0.713) deleterious(0) deleterious(0.702) HMMPfam_V-set,superfamily_Immunoglobulin SHCBP1 79801 genome.wustl.edu 37 16 46615713 46615713 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024745.4 -1 validated p.E649 0.998 596 0% 538 28.8% 17 52.9% - - - NULL DNAJA2 10294 genome.wustl.edu 37 16 46993025 46993025 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005880.3 -1 reviewed p.R313* 1.000 87 0% 98 36.7% 25 0% - - - HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain ITFG1 81533 genome.wustl.edu 37 16 47399769 47399769 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030790.3 -1 provisional p.F244L 0.998 154 0% 97 32% 37 51.3% benign(0.002) tolerated(0.14) neutral(0.249) NULL PHKB 5257 genome.wustl.edu 37 16 47684814 47684814 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000293.2 +1 reviewed p.V651 0.997 372 0% 302 31.1% 37 32.4% - - - HMMPfam_PHK_AB ABCC12 94160 genome.wustl.edu 37 16 48141283 48141283 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033226.2 -1 reviewed p.A809T 0.979 156 0% 131 34.4% 0 - benign(0) tolerated(1) - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC12 94160 genome.wustl.edu 37 16 48145803 48145803 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033226.2 -1 reviewed p.E670* 0.986 102 0% 91 28.6% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC11 85320 genome.wustl.edu 37 16 48247384 48247384 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032583.3 -1 reviewed p.T442 0.000 154 0% 131 33.6% 0 - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC11 85320 genome.wustl.edu 37 16 48248844 48248844 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032583.3 -1 reviewed p.A399V 0.000 120 0% 121 28.9% 1 0% benign(0) tolerated(1) - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain LONP2 83752 genome.wustl.edu 37 16 48311278 48311278 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031490.2 +1 provisional p.R424H 1.000 235 0% 222 29.7% 30 36.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 N4BP1 9683 genome.wustl.edu 37 16 48595367 48595367 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153029.3 -1 validated p.E396G 0.122 139 0% 118 21.2% 8 25% benign(0.235) tolerated(0.24) neutral(0.061) NULL HEATR3 55027 genome.wustl.edu 37 16 50104137 50104137 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182922.2 +1 provisional p.D150Y 0.989 90 0% 74 17.6% 3 0% probably_damaging(0.966) deleterious(0.01) deleterious(0.814) superfamily_ARM repeat NOD2 64127 genome.wustl.edu 37 16 50744871 50744871 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022162.1 +1 reviewed p.F350C 1.000 66 0% 76 28.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases NOD2 64127 genome.wustl.edu 37 16 50765663 50765663 + Missense_Mutation SNP G G A rs5743295 byCluster;byFrequency TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022162.1 +1 reviewed p.R1019Q 1.000 106 0% 100 33% 2 100% probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_RNI-like CYLD 1540 genome.wustl.edu 37 16 50813676 50813676 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015247.2 +1 reviewed p.E413D 1.000 333 0% 370 27% 11 27.2% benign(0.032) tolerated(0.28) neutral(0.033) NULL CYLD 1540 genome.wustl.edu 37 16 50828274 50828274 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015247.2 +1 reviewed p.A874D 1.000 144 0% 148 29.7% 18 27.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_UCH,superfamily_Cysteine proteinases SALL1 6299 genome.wustl.edu 37 16 51171056 51171056 + Silent SNP G G A rs189411650 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002968.2 -1 reviewed p.F1314 1.000 83 0% 54 24.1% 12 66.6% - - - NULL SALL1 6299 genome.wustl.edu 37 16 51176030 51176030 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002968.2 -1 reviewed p.R35C 1.000 477 0% 351 26.5% 0 - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) NULL TOX3 27324 genome.wustl.edu 37 16 52480118 52480118 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080430.2 -1 reviewed p.R232G 1.000 139 0% 135 28.9% 3 66.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TOX3 27324 genome.wustl.edu 37 16 52497890 52497890 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080430.2 -1 reviewed p.L122I 1.000 204 0% 148 35.8% 9 44.4% probably_damaging(0.979) tolerated(0.06) deleterious(0.744) NULL CHD9 80205 genome.wustl.edu 37 16 53358283 53358283 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025134.4 +1 validated p.L2708M 1.000 215 0% 165 18.8% 3 0% unknown(0) tolerated(0.4) - NULL CHD9 80205 genome.wustl.edu 37 16 53358767 53358767 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025134.4 +1 validated p.S2869L 0.997 77 0% 61 27.9% 3 33.3% unknown(0) deleterious(0.02) - NULL LOC643802 643802 genome.wustl.edu 37 16 53404670 53404670 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001719265.1 -1 model p.E140* 1.000 91 0% 88 30.7% 0 - - - - HMMPfam_Mpp10 LOC643802 643802 genome.wustl.edu 37 16 53404736 53404736 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001719265.1 -1 model p.E118* 0.954 105 0% 90 24.4% 0 - - - - HMMPfam_Mpp10 RPGRIP1L 23322 genome.wustl.edu 37 16 53690420 53690420 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015272.2 -1 reviewed p.L555I 1.000 153 0% 113 25.7% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RPGRIP1L 23322 genome.wustl.edu 37 16 53709010 53709010 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015272.2 -1 reviewed p.E267D 1.000 77 0% 64 40.6% 0 - benign(0.159) tolerated(0.35) neutral(0.035) NULL IRX5 10265 genome.wustl.edu 37 16 54966704 54966704 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005853.5 +1 validated p.R182W 1.000 81 0% 64 29.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IRX5 10265 genome.wustl.edu 37 16 54967712 54967712 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005853.5 +1 validated p.L460S 1.000 189 0.5% 109 35.8% 0 - unknown(0) deleterious(0.01) - NULL IRX6 79190 genome.wustl.edu 37 16 55362963 55362963 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024335.2 +1 validated p.A358V 0.990 50 0% 40 35% 0 - probably_damaging(0.992) tolerated(0.08) deleterious(0.748) HMMSmart_SM00548 MMP2 4313 genome.wustl.edu 37 16 55536702 55536702 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004530.4 +1 reviewed p.V594A 0.985 105 1% 94 36.2% 150 8.6% benign(0) tolerated(0.66) neutral(0.003) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX CES1 1066 genome.wustl.edu 37 16 55855282 55855282 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001025195.1 -1 reviewed p.L231I 0.995 75 0% 63 27% 7 0% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_COesterase,superfamily_SSF53474 CES5A 221223 genome.wustl.edu 37 16 55899944 55899944 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143685.1 -1 validated p.F212L 0.785 77 0% 80 36.2% 0 - benign(0.291) tolerated(0.57) neutral(0.096) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases GNAO1 2775 genome.wustl.edu 37 16 56385325 56385325 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020988.2 +1 validated p.F251 1.000 33 0% 31 22.6% 0 - - - - HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases GNAO1 2775 genome.wustl.edu 37 16 56385349 56385349 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020988.2 +1 validated p.F259L 1.000 46 0% 27 37% 0 - benign(0.018) deleterious(0) neutral(0.445) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases BBS2 583 genome.wustl.edu 37 16 56530924 56530924 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031885.3 -1 reviewed p.R622Q 1.000 552 0% 414 29.5% 15 73.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SLC12A3 6559 genome.wustl.edu 37 16 56920292 56920292 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000339.2 +1 reviewed p.L648F 1.000 39 0% 34 23.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NLRC5 84166 genome.wustl.edu 37 16 57089363 57089363 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032206.3 +1 validated p.S1226 0.258 82 0% 62 19.4% 4 25% - - - superfamily_RNI-like FAM192A 80011 genome.wustl.edu 37 16 57206180 57206180 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024946.2 -1 validated p.E111* 1.000 321 0% 280 32.9% 19 0% - - - HMMPfam_Nefa_Nip30_N FAM192A 80011 genome.wustl.edu 37 16 57206210 57206210 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024946.2 -1 validated p.E101K 1.000 288 0% 247 30.8% 25 72% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Nefa_Nip30_N GPR97 222487 genome.wustl.edu 37 16 57707292 57707292 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_170776.4 +1 validated p.D40N 0.000 41 0% 40 22.5% 0 - benign(0) tolerated(0.25) neutral(0.037) NULL C16orf80 29105 genome.wustl.edu 37 16 58149954 58149954 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013242.2 -1 validated p.F89 0.991 104 1% 105 18.1% 40 15% - - - HMMPfam_DUF667 SETD6 79918 genome.wustl.edu 37 16 58551964 58551964 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024860.2 +1 validated p.R244W 0.999 53 0% 50 32% 7 28.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_SET,superfamily_SET domain CNOT1 23019 genome.wustl.edu 37 16 58571098 58571098 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016284.3 -1 validated p.R1814Q 1.000 280 0% 267 28.8% 39 48.7% probably_damaging(0.967) tolerated(0.26) neutral(0.443) NULL CNOT1 23019 genome.wustl.edu 37 16 58577534 58577534 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016284.3 -1 validated p.N1471H 1.000 180 0% 176 32.4% 39 28.2% probably_damaging(0.984) tolerated(0.07) deleterious(0.750) NULL CNOT1 23019 genome.wustl.edu 37 16 58615359 58615359 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016284.3 -1 validated p.R369C 1.000 83 0% 86 34.9% 10 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL CDH8 1006 genome.wustl.edu 37 16 61689449 61689449 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001796.2 -1 reviewed p.E611K 1.000 125 0% 128 22.7% 0 - possibly_damaging(0.915) tolerated(0.13) deleterious(0.619) NULL TK2 7084 genome.wustl.edu 37 16 66575837 66575837 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004614.4 -1 reviewed p.I101T 1.000 186 0% 168 27.4% 6 50% probably_damaging(0.983) deleterious(0.03) deleterious(0.793) superfamily_P-loop containing nucleoside triphosphate hydrolases CKLF 51192 genome.wustl.edu 37 16 66597100 66597100 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016951.2 +1 reviewed p.T105A 0.000 165 0% 132 37.1% 74 33.7% benign(0.052) tolerated(0.16) neutral(0.062) HMMPfam_MARVEL CMTM1 113540 genome.wustl.edu 37 16 66603922 66603922 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052999.3 +1 reviewed p.C172 0.666 277 0% 224 28.1% 0 - - - - HMMPfam_MARVEL NAE1 8883 genome.wustl.edu 37 16 66839819 66839819 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003905.3 -1 reviewed p.E481* 1.000 174 0% 135 22.2% 78 38.4% - - - superfamily_Activating enzymes of the ubiquitin-like proteins CDH16 1014 genome.wustl.edu 37 16 66946321 66946321 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004062.2 -1 reviewed p.S458R 0.237 76 0% 72 22.2% 0 - benign(0.032) deleterious(0.01) neutral(0.407) HMMPfam_Cadherin,superfamily_Cadherin-like C16orf70 80262 genome.wustl.edu 37 16 67159935 67159935 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025187.3 +1 provisional p.Q74P 1.000 121 0% 111 40.5% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UPF0183 B3GNT9 84752 genome.wustl.edu 37 16 67183680 67183680 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033309.2 -1 validated p.G237R 0.996 36 0% 27 29.6% 7 0% benign(0.005) tolerated(0.53) neutral(0.007) HMMPfam_Galactosyl_T E2F4 1874 genome.wustl.edu 37 16 67231533 67231533 + Silent SNP C C A rs189616961 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001950.3 +1 reviewed p.I355 1.000 32 0% 25 44% 47 31.9% - - - NULL LRRC29 26231 genome.wustl.edu 37 16 67242303 67242303 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004055.1 -1 reviewed p.P66L 0.725 68 0% 53 24.5% 0 - probably_damaging(0.99) tolerated(0.41) neutral(0.457) superfamily_RNI-like SLC9A5 6553 genome.wustl.edu 37 16 67290570 67290570 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004594.2 +1 validated p.F370L 1.000 88 0% 81 23.5% 0 - possibly_damaging(0.476) tolerated(0.12) neutral(0.417) HMMPfam_Na_H_Exchanger TPPP3 51673 genome.wustl.edu 37 16 67424182 67424182 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015964.2 -1 validated p.S142 0.994 134 0% 95 29.5% 89 43.8% - - - HMMPfam_p25-alpha TSNAXIP1 55815 genome.wustl.edu 37 16 67861750 67861750 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018430.2 +1 validated p.A611T 1.000 89 0% 76 39.5% 4 25% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL LCAT 3931 genome.wustl.edu 37 16 67974157 67974157 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000229.1 -1 reviewed p.L325 0.034 26 0% 28 28.6% 5 20% - - - HMMPfam_LACT,superfamily_alpha/beta-Hydrolases NFATC3 4775 genome.wustl.edu 37 16 68156606 68156606 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173165.1 +1 reviewed p.R274W 1.000 180 0% 146 33.6% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC7A6 9057 genome.wustl.edu 37 16 68308818 68308818 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001076785.1 +1 validated p.I63 1.000 141 0% 127 35.4% 3 66.6% - - - HMMPfam_AA_permease ZFP90 146198 genome.wustl.edu 37 16 68598284 68598284 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133458.2 +1 provisional p.E532* 1.000 215 0.5% 272 27.6% 11 9% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CDH1 999 genome.wustl.edu 37 16 68844193 68844193 + Missense_Mutation SNP G G A rs121964873 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004360.3 +1 reviewed p.E261K 0.000 284 0% 228 26.8% 82 48.7% benign(0.054) tolerated(0.49) neutral(0.014) superfamily_Cadherin-like TMCO7 79613 genome.wustl.edu 37 16 68894095 68894095 + Missense_Mutation SNP G G A rs184844958 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024562.1 +1 validated p.D135N 0.999 221 0% 200 29% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CIRH1A 84916 genome.wustl.edu 37 16 69177144 69177144 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032830.2 +1 reviewed p.I197T 1.000 143 0% 203 12.8% 23 21.7% benign(0.248) deleterious(0.01) neutral(0.431) HMMSmart_SM00320,superfamily_WD40 repeat-like NIP7 51388 genome.wustl.edu 37 16 69374105 69374105 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016101.3 +1 validated p.I51S 0.998 90 0% 81 24.7% 26 7.6% benign(0) deleterious(0.04) neutral(0.349) superfamily_Pre-PUA domain TMED6 146456 genome.wustl.edu 37 16 69381711 69381711 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144676.3 -1 validated p.D157Y 0.999 436 0% 401 29.2% 0 - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_EMP24_GP25L NFAT5 10725 genome.wustl.edu 37 16 69681372 69681372 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138713.2 +1 reviewed p.R232Q 1.000 135 0.7% 112 14.3% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL NFAT5 10725 genome.wustl.edu 37 16 69727466 69727466 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138713.2 +1 reviewed p.Q1246H 1.000 319 0% 238 26.9% 2 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL NFAT5 10725 genome.wustl.edu 37 16 69729217 69729217 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138713.2 +1 reviewed p.K1531N 1.000 337 0% 214 34.1% 3 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DDX19B 11269 genome.wustl.edu 37 16 70359544 70359544 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007242.4 +1 reviewed p.K187T 1.000 313 0% 236 34.7% 29 37.9% benign(0.229) deleterious(0.03) neutral(0.388) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases HYDIN 54768 genome.wustl.edu 37 16 70954969 70954969 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032821.2 -1 validated p.D2436G 0.957 255 0% 240 30.4% 0 - possibly_damaging(0.85) deleterious(0.01) deleterious(0.733) NULL HYDIN 54768 genome.wustl.edu 37 16 71008114 71008114 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032821.2 -1 validated p.L1666F 0.797 47 0% 59 23.7% 0 - possibly_damaging(0.819) tolerated(0.19) neutral(0.359) NULL HYDIN 54768 genome.wustl.edu 37 16 71065771 71065771 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032821.2 -1 validated p.P860H 1.000 179 0% 187 22.5% 1 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL HYDIN 54768 genome.wustl.edu 37 16 71196558 71196558 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032821.2 -1 validated p.A198T 1.000 216 0% 199 24.1% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_PapD-like HYDIN 54768 genome.wustl.edu 37 16 71212836 71212836 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032821.2 -1 validated p.D126Y 1.000 166 0% 134 25.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FTSJD1 55783 genome.wustl.edu 37 16 71319312 71319312 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099642.1 -1 validated p.A171V 1.000 289 0.3% 321 19.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FtsJ,superfamily_S-adenosyl-L-methionine-dependent methyltransferases CALB2 794 genome.wustl.edu 37 16 71416660 71416660 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001740.3 +1 reviewed p.I127 0.976 347 0% 313 26.5% 21 61.9% - - - HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 CALB2 794 genome.wustl.edu 37 16 71419500 71419500 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007088.2 +1 reviewed p.T185M 0.993 158 0% 152 23% 22 36.3% unknown(0) - - NULL ZNF19 7567 genome.wustl.edu 37 16 71509656 71509656 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006961.3 -1 reviewed p.R265I 1.000 244 0% 205 29.8% 1 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PHLPP2 23035 genome.wustl.edu 37 16 71712814 71712814 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015020.2 -1 validated p.S371F 1.000 175 0% 178 25.8% 0 - benign(0.206) deleterious(0.03) neutral(0.385) HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like AP1G1 164 genome.wustl.edu 37 16 71806935 71806935 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000450149 -1 known p.N164H 0.012 17 0% 21 23.8% 0 - benign(0.009) tolerated(0.11) neutral(0.272) NULL IST1 9798 genome.wustl.edu 37 16 71961550 71961550 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014761.2 +1 provisional p.F311V 0.935 209 0% 191 29.3% 85 47% benign(0.001) deleterious(0.02) neutral(0.383) NULL HP 3240 genome.wustl.edu 37 16 72094425 72094425 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005143.3 +1 reviewed p.R286Q 0.975 128 0% 134 34.3% 5 40% benign(0.007) tolerated(0.4) neutral(0.016) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys PMFBP1 83449 genome.wustl.edu 37 16 72162649 72162649 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031293.2 -1 validated p.L665 0.044 135 0% 154 13.6% 0 - - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72821425 72821425 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006885.3 -1 reviewed p.A3584T 1.000 46 0% 53 24.5% 4 25% unknown(0) - - NULL ZFHX3 463 genome.wustl.edu 37 16 72828148 72828148 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006885.3 -1 reviewed p.E2811D 1.000 137 0% 113 36.3% 10 60% possibly_damaging(0.597) - - NULL ZFHX3 463 genome.wustl.edu 37 16 72832265 72832265 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006885.3 -1 reviewed p.R1439Q 1.000 411 0% 422 35.3% 5 60% unknown(0) - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX3 463 genome.wustl.edu 37 16 72832575 72832575 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006885.3 -1 reviewed p.A1336T 0.061 194 0% 140 27.1% 7 28.5% unknown(0) - - NULL ZFHX3 463 genome.wustl.edu 37 16 72923722 72923722 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006885.3 -1 reviewed p.R1119Q 1.000 151 0% 133 35.3% 1 100% unknown(0) - - HMMSmart_SM00451 PSMD7 5713 genome.wustl.edu 37 16 74338218 74338218 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002811.3 +1 reviewed p.S152 0.679 188 0% 129 24% 127 37.7% - - - NULL GABARAPL2 11345 genome.wustl.edu 37 16 75611244 75611244 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007285.6 +1 validated p.G111R 1.000 137 0% 134 23.1% 150 29.3% benign(0.193) deleterious(0.04) neutral(0.367) HMMPfam_MAP1_LC3,superfamily_Ubiquitin-like CNTNAP4 85445 genome.wustl.edu 37 16 76501292 76501292 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033401.3 +1 reviewed p.L509S 0.006 75 0% 52 32.7% 0 - - - - NULL CNTNAP4 85445 genome.wustl.edu 37 16 76573639 76573639 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138994.3 +1 validated p.L1009 1.000 92 0% 52 13.5% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 ADAMTS18 170692 genome.wustl.edu 37 16 77327076 77327076 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199355.2 -1 reviewed p.S1029N 1.000 157 0% 136 33.1% 1 0% benign(0.001) tolerated(0.13) neutral(0.253) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat VAT1L 57687 genome.wustl.edu 37 16 77896699 77896699 + Missense_Mutation SNP A A G rs74414030 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020927.1 +1 provisional p.T212A 1.000 222 0% 194 22.7% 0 - benign(0.082) deleterious(0.04) neutral(0.355) HMMPfam_ADH_zinc_N,superfamily_NAD(P)-bd CLEC3A 10143 genome.wustl.edu 37 16 78064469 78064469 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005752.3 +1 validated p.D109N 0.750 162 0% 160 28.7% 0 - benign(0.003) tolerated(0.55) neutral(0.007) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold CLEC3A 10143 genome.wustl.edu 37 16 78064556 78064556 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005752.3 +1 validated p.E138K 1.000 152 0% 176 10.8% 0 - possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold CDYL2 124359 genome.wustl.edu 37 16 80646529 80646529 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152342.2 -1 validated p.V404 0.958 69 0% 35 37.1% 2 0% - - - HMMPfam_ECH,superfamily_SSF52096 ATMIN 23300 genome.wustl.edu 37 16 81077373 81077373 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015251.2 +1 validated p.F424V 0.001 206 0% 200 31.5% 22 31.8% benign(0) tolerated(0.32) neutral(0.024) NULL ATMIN 23300 genome.wustl.edu 37 16 81078017 81078017 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015251.2 +1 validated p.I638 0.496 115 0% 147 62.6% 60 78.3% - - - NULL GCSH 2653 genome.wustl.edu 37 16 81124262 81124262 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004483.4 -1 reviewed p.E58K 1.000 61 0% 56 14.3% 21 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GCV_H,superfamily_Single hybrid motif PKD1L2 114780 genome.wustl.edu 37 16 81145838 81145838 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052892.3 -1 reviewed p.A2305T 0.909 286 0% 295 29.5% 0 - unknown(0) - - NULL GAN 8139 genome.wustl.edu 37 16 81385286 81385286 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022041.3 +1 reviewed p.Y89C 1.000 137 0% 114 31.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB GAN 8139 genome.wustl.edu 37 16 81397413 81397413 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022041.3 +1 reviewed p.F367 0.999 214 0% 198 24.7% 3 33.3% - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central PLCG2 5336 genome.wustl.edu 37 16 81939065 81939065 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002661.2 +1 validated p.E474K 0.998 47 0% 41 51.2% 6 33.3% benign(0.271) tolerated(0.75) neutral(0.031) superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729 CDH13 1012 genome.wustl.edu 37 16 83816966 83816966 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001257.3 +1 reviewed p.L675I 1.000 103 0% 118 33.9% 3 0% possibly_damaging(0.922) tolerated(0.3) neutral(0.400) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin MBTPS1 8720 genome.wustl.edu 37 16 84108262 84108262 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003791.2 -1 reviewed p.P511 0.972 79 0% 69 40.6% 57 47.3% - - - NULL KCNG4 93107 genome.wustl.edu 37 16 84270958 84270958 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172347.1 -1 reviewed p.R45Q 0.995 77 0% 60 31.7% 0 - benign(0.109) tolerated(0.58) neutral(0.014) NULL KLHL36 79786 genome.wustl.edu 37 16 84695223 84695223 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024731.2 +1 provisional p.F445 0.020 31 0% 19 47.4% 16 25% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain USP10 9100 genome.wustl.edu 37 16 84793794 84793794 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005153.2 +1 reviewed p.I489 0.043 56 0% 41 26.8% 45 42.2% - - - HMMPfam_UCH,superfamily_SSF54001 KIAA0513 9764 genome.wustl.edu 37 16 85111141 85111141 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014732.2 +1 validated p.R229W 1.000 34 0% 21 42.9% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM92B 339145 genome.wustl.edu 37 16 85135934 85135934 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198491.1 -1 predicted e7-1 1.000 55 0% 59 28.8% 0 - - - - - COX4I1 1327 genome.wustl.edu 37 16 85839437 85839437 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001861.2 +1 reviewed p.T114A 1.000 49 0% 49 55.1% 1605 47.4% possibly_damaging(0.525) tolerated(0.16) neutral(0.236) HMMPfam_COX4,superfamily_Mitochondrial cytochrome c oxidase subunit IV ZC3H18 124245 genome.wustl.edu 37 16 88666326 88666326 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144604.3 +1 validated p.S353Y 1.000 102 0% 58 34.5% 18 50% unknown(0) tolerated(0.21) - NULL TUBB3 10381 genome.wustl.edu 37 16 90001203 90001203 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006086.2 +1 validated p.S115L 1.000 25 0% 27 37% 343 49.2% possibly_damaging(0.469) deleterious(0.01) deleterious(0.559) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like DEF8 54849 genome.wustl.edu 37 16 90030919 90030919 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207514.1 +1 validated p.D458N 1.000 5 0.000 7 0.571 9 33.3% probably_damaging(0.985) tolerated(0.09) deleterious(0.728) HMMSmart_SM00109,superfamily_Cysteine-rich domain YWHAE 7531 genome.wustl.edu 37 17 1248772 1248772 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006761.4 -1 reviewed p.A246V 1.000 304 0% 304 13.8% 999 22.8% benign(0) tolerated(0.07) neutral(0.319) NULL PITPNA 5306 genome.wustl.edu 37 17 1451668 1451668 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006224.3 -1 reviewed p.F71L 0.995 90 0% 94 46.8% 38 42.1% benign(0.037) tolerated(0.06) neutral(0.325) HMMPfam_IP_trans,superfamily_SSF55961 SMYD4 114826 genome.wustl.edu 37 17 1703413 1703413 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052928.2 -1 validated p.V425 1.000 168 0% 194 23.7% 1 100% - - - superfamily_SET domain SRR 63826 genome.wustl.edu 37 17 2218856 2218856 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021947.1 +1 provisional p.M1T 1.000 576 0% 469 21.5% 4 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SRR 63826 genome.wustl.edu 37 17 2221167 2221167 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021947.1 +1 provisional p.R58C 0.998 298 0% 261 30.3% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_DEHYDRATASE_SER_THR,HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu METTL16 79066 genome.wustl.edu 37 17 2324179 2324179 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024086.3 -1 validated p.R303I 1.000 255 0% 210 34.3% 7 28.5% possibly_damaging(0.541) tolerated(0.12) neutral(0.444) NULL OR1D4 653166 genome.wustl.edu 37 17 2966244 2966244 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003552.2 -1 provisional p.R238C 0.000 141 0% 133 27.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1D2 4991 genome.wustl.edu 37 17 2995760 2995760 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002548.2 -1 validated p.I177 0.938 220 0% 241 26.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR1G1 8390 genome.wustl.edu 37 17 3030189 3030189 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003555.1 -1 provisional p.T219 0.000 228 0% 206 32.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR1A2 26189 genome.wustl.edu 37 17 3101425 3101425 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012352.1 +1 provisional p.V205I 0.004 475 0% 554 35.9% 0 - benign(0.022) tolerated(0.73) neutral(0.003) HMMPfam_7tm_1,superfamily_SSF81321 OR1A2 26189 genome.wustl.edu 37 17 3101505 3101505 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012352.1 +1 provisional p.K231N 0.011 427 0% 465 34% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_7tm_1,superfamily_SSF81321 OR3A2 4995 genome.wustl.edu 37 17 3181778 3181778 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002551.3 -1 validated p.R151M 0.001 386 0% 394 13.7% 0 - benign(0.257) tolerated(0.23) neutral(0.068) HMMPfam_7tm_1,superfamily_SSF81321 OR1E1 8387 genome.wustl.edu 37 17 3300772 3300772 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003553.2 -1 validated p.F311L 0.000 374 0% 409 23.2% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL OR1E1 8387 genome.wustl.edu 37 17 3301056 3301056 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003553.2 -1 validated p.S217P 0.978 300 0% 374 26.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR1E1 8387 genome.wustl.edu 37 17 3301250 3301250 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003553.2 -1 validated p.T152N 0.025 239 0% 292 29.5% 0 - benign(0.041) tolerated(0.07) neutral(0.322) HMMPfam_7tm_1,superfamily_SSF81321 SHPK 23729 genome.wustl.edu 37 17 3527407 3527407 + Silent SNP C C T rs151048982 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013276.2 -1 reviewed p.P143 0.846 43 0% 61 39.3% 1 0% - - - HMMPfam_FGGY_N,superfamily_Actin-like ATPase domain GSG2 83903 genome.wustl.edu 37 17 3627970 3627970 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031965.2 +1 validated p.G247 0.001 102 0% 99 23.2% 2 50% - - - NULL ITGAE 3682 genome.wustl.edu 37 17 3657172 3657172 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002208.4 -1 reviewed p.A478T 0.033 124 0% 137 48.9% 1 0% probably_damaging(0.99) tolerated(0.18) deleterious(0.497) HMMSmart_Int_alpha,superfamily_SSF69318 ANKFY1 51479 genome.wustl.edu 37 17 4109626 4109626 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016376.3 -1 validated p.G296 1.000 175 0% 212 29.7% 1 0% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ZMYND15 84225 genome.wustl.edu 37 17 4648541 4648541 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136046.1 +1 provisional p.S643N 1.000 156 0% 135 11.9% 2 0% probably_damaging(0.987) tolerated(0.4) neutral(0.453) NULL VMO1 284013 genome.wustl.edu 37 17 4688750 4688750 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182566.2 -1 validated p.G172 0.017 52 0% 38 26.3% 16 0% - - - HMMPfam_VOMI,superfamily_VOMI PSMB6 5694 genome.wustl.edu 37 17 4700779 4700779 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002798.1 +1 reviewed p.D73N 0.997 256 0.4% 310 36.5% 279 43.7% benign(0.111) deleterious(0.02) neutral(0.392) HMMPfam_Proteasome,PatternScan_PROTEASOME_B,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) MINK1 50488 genome.wustl.edu 37 17 4796799 4796799 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153827.4 +1 reviewed p.S824L 0.998 21 0% 21 28.6% 26 23% benign(0.04) deleterious(0) neutral(0.447) NULL CAMTA2 23125 genome.wustl.edu 37 17 4885027 4885027 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015099.3 -1 validated p.R171* 1.000 198 0% 225 19.1% 7 0% - - - NULL SLC52A1 55065 genome.wustl.edu 37 17 4936874 4936874 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001104577.1 -1 validated p.S304P 0.995 49 0% 54 24.1% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF1011 ZFP3 124961 genome.wustl.edu 37 17 4994875 4994875 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153018.2 +1 validated p.E26* 0.015 150 0% 110 23.6% 0 - - - - NULL ZFP3 124961 genome.wustl.edu 37 17 4995427 4995427 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153018.2 +1 validated p.S210A 1.000 214 0% 158 24.7% 0 - probably_damaging(0.973) tolerated(0.17) deleterious(0.474) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP3 124961 genome.wustl.edu 37 17 4995549 4995549 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153018.2 +1 validated p.E250D 1.000 191 0% 173 28.3% 0 - possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) superfamily_C2H2 and C2HC zinc fingers ZFP3 124961 genome.wustl.edu 37 17 4995617 4995617 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153018.2 +1 validated p.R273I 1.000 167 0% 139 28.8% 0 - probably_damaging(0.994) tolerated(0.06) deleterious(0.774) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers USP6 9098 genome.wustl.edu 37 17 5049395 5049395 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004505.2 +1 validated p.K749Q 1.000 121 0% 125 35.2% 3 0% benign(0.325) tolerated(0.34) neutral(0.124) HMMPfam_UCH,superfamily_Cysteine proteinases USP6 9098 genome.wustl.edu 37 17 5073925 5073925 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004505.2 +1 validated p.K1223N 1.000 93 0% 86 25.6% 0 - benign(0.042) tolerated(0.07) neutral(0.322) HMMPfam_UCH,superfamily_Cysteine proteinases ZNF594 84622 genome.wustl.edu 37 17 5084634 5084634 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000381752 -1 known p.V185I 0.687 587 0% 485 29.9% 0 - benign(0.019) deleterious(0.02) neutral(0.384) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 ZNF594 84622 genome.wustl.edu 37 17 5084876 5084876 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000381752 -1 known p.R104I 0.859 251 0% 255 30.2% 1 100% possibly_damaging(0.806) deleterious(0.04) deleterious(0.652) HMMPfam_zf-C2H2,superfamily_SSF57667 ZNF594 84622 genome.wustl.edu 37 17 5085028 5085028 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000381752 -1 known p.E53D 0.999 284 0% 300 28.7% 0 - probably_damaging(0.954) deleterious(0.02) deleterious(0.780) superfamily_SSF57667 ZNF594 84622 genome.wustl.edu 37 17 5085050 5085050 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000381752 -1 known p.H46R 0.076 309 0.3% 324 34.3% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 ZNF594 84622 genome.wustl.edu 37 17 5085137 5085137 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032530.1 -1 validated p.E805D 0.063 513 0% 502 31.3% 0 - benign(0.003) tolerated(0.17) neutral(0.059) NULL ZNF594 84622 genome.wustl.edu 37 17 5086233 5086233 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032530.1 -1 validated p.S440Y 0.003 419 0.2% 386 29% 0 - probably_damaging(0.968) deleterious(0.02) deleterious(0.793) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RPAIN 84268 genome.wustl.edu 37 17 5324635 5324635 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033002.3 +1 validated p.R34I 1.000 80 0% 68 33.8% 22 45.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL NLRP1 22861 genome.wustl.edu 37 17 5424251 5424251 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033004.3 -1 reviewed p.R1289C 0.002 24 0% 21 23.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP1 22861 genome.wustl.edu 37 17 5433934 5433934 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033004.3 -1 reviewed p.F1129L 0.810 184 0% 156 14.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP1 22861 genome.wustl.edu 37 17 5442821 5442821 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033004.3 -1 reviewed p.D928 1.000 71 0% 67 25.4% 2 0% - - - HMMSmart_SM00368,superfamily_RNI-like FAM64A 54478 genome.wustl.edu 37 17 6352664 6352664 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019013.1 +1 provisional p.A208V 0.000 100 0% 79 27.8% 28 32.1% benign(0) deleterious(0) neutral(0.445) HMMPfam_DUF1466 KIAA0753 9851 genome.wustl.edu 37 17 6528142 6528142 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014804.2 -1 validated p.R253Q 0.045 12 0% 16 56.2% 1 0% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL SLC13A5 284111 genome.wustl.edu 37 17 6594190 6594190 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177550.3 -1 validated p.T449A 0.997 83 0% 97 45.4% 3 0% benign(0.004) tolerated(0.52) neutral(0.009) HMMPfam_Na_sulph_symp SLC13A5 284111 genome.wustl.edu 37 17 6599001 6599001 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000381074 -1 known p.R308H 0.002 57 0% 53 35.8% 0 - - - - NULL SLC13A5 284111 genome.wustl.edu 37 17 6616611 6616611 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177550.3 -1 validated p.F14 0.997 41 0% 45 31.1% 3 0% - - - HMMPfam_Na_sulph_symp XAF1 54739 genome.wustl.edu 37 17 6674258 6674258 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017523.2 +1 validated p.S268 0.064 150 0% 121 28.9% 7 0% - - - NULL TEKT1 83659 genome.wustl.edu 37 17 6703503 6703503 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053285.1 -1 reviewed p.R367H 0.926 191 0% 131 26.7% 1 0% probably_damaging(0.953) tolerated(0.09) deleterious(0.693) HMMPfam_Tektin TEKT1 83659 genome.wustl.edu 37 17 6718550 6718550 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053285.1 -1 reviewed p.I187 1.000 202 0% 204 29.4% 0 - - - - HMMPfam_Tektin DLG4 1742 genome.wustl.edu 37 17 7100221 7100221 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001365.3 -1 reviewed p.R356Q 0.994 51 0% 53 37.7% 10 30% benign(0.276) tolerated(0.1) neutral(0.316) HMMPfam_PDZ,superfamily_PDZ DVL2 1856 genome.wustl.edu 37 17 7134104 7134104 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004422.2 -1 reviewed p.E69D 0.998 126 0% 117 28.2% 20 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DIX,HMMSmart_SM00021 SLC35G6 643664 genome.wustl.edu 37 17 7385900 7385900 + Silent SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102614.1 +1 provisional p.G199 0.874 122 0% 152 29.6% 0 - - - - NULL EIF4A1 1973 genome.wustl.edu 37 17 7478537 7478537 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001416.2 +1 validated p.Q102 1.000 280 0% 239 27.2% 1046 41.1% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases EIF4A1 1973 genome.wustl.edu 37 17 7481736 7481736 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001416.2 +1 validated p.R385* 1.000 213 0% 175 30.3% 1257 38.5% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases WRAP53 55135 genome.wustl.edu 37 17 7605346 7605346 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000451908 +1 known p.C183 0.001 5 0.000 7 0.571 0 - - - - NULL DNAH2 146754 genome.wustl.edu 37 17 7643145 7643145 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020877.2 +1 validated p.R422Q 0.982 112 0.9% 98 25.5% 0 - possibly_damaging(0.525) tolerated(0.14) neutral(0.426) HMMPfam_DHC_N1 DNAH2 146754 genome.wustl.edu 37 17 7646257 7646257 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020877.2 +1 validated p.G567 0.000 63 0% 77 28.6% 1 100% - - - HMMPfam_DHC_N1 DNAH2 146754 genome.wustl.edu 37 17 7673883 7673883 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020877.2 +1 validated p.Q1369H 0.994 155 0% 171 37.4% 0 - benign(0.096) tolerated(0.09) neutral(0.303) HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7678126 7678126 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020877.2 +1 validated p.Q1517H 1.000 102 0% 80 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7680814 7680814 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020877.2 +1 validated p.K1703N 1.000 818 0% 792 27.5% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL DNAH2 146754 genome.wustl.edu 37 17 7681690 7681690 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020877.2 +1 validated p.D1815G 1.000 89 0% 77 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH2 146754 genome.wustl.edu 37 17 7696048 7696048 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020877.2 +1 validated p.A2407T 0.128 110 0% 118 29.7% 0 - benign(0.001) tolerated(0.45) neutral(0.012) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH2 146754 genome.wustl.edu 37 17 7702439 7702439 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020877.2 +1 validated p.D2860Y 1.000 53 0% 48 20.8% 0 - benign(0.166) deleterious(0.03) neutral(0.380) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH2 146754 genome.wustl.edu 37 17 7719960 7719960 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020877.2 +1 validated p.K3267N 1.000 328 0% 290 29.7% 0 - benign(0.045) tolerated(0.48) neutral(0.013) NULL DNAH2 146754 genome.wustl.edu 37 17 7733685 7733685 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020877.2 +1 validated p.K3974T 0.997 85 0% 84 32.1% 1 0% benign(0.002) tolerated(0.56) neutral(0.006) HMMPfam_Dynein_heavy CHD3 1107 genome.wustl.edu 37 17 7808417 7808417 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005271.2 +1 reviewed e26-1 1.000 330 0% 287 31% 0 - - - - - KCNAB3 9196 genome.wustl.edu 37 17 7829266 7829266 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004732.2 -1 reviewed p.K159N 1.000 185 0% 209 31.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red CNTROB 116840 genome.wustl.edu 37 17 7849188 7849188 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000380262 +1 known p.A626V 0.000 268 0% 269 35.7% 18 44.4% benign(0) deleterious(0.01) neutral(0.406) NULL ALOX15B 247 genome.wustl.edu 37 17 7950251 7950251 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001141.2 +1 reviewed p.F438L 0.257 161 0% 120 31.7% 2 0% benign(0.001) tolerated(1) - HMMPfam_Lipoxygenase,superfamily_Lipoxigenase PER1 5187 genome.wustl.edu 37 17 8052944 8052944 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002616.2 -1 reviewed p.R230Q 0.992 123 0% 91 35.2% 0 - possibly_damaging(0.66) deleterious(0.01) deleterious(0.639) HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain) KRBA2 124751 genome.wustl.edu 37 17 8272735 8272735 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_213597.2 -1 provisional p.F399S 0.054 250 0% 157 25.5% 3 33.3% possibly_damaging(0.556) tolerated(0.19) neutral(0.239) superfamily_RNaseH_fold MYH10 4628 genome.wustl.edu 37 17 8402793 8402793 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005964.1 -1 validated p.F1218S 1.000 142 0% 105 23.8% 17 17.6% benign(0) tolerated(0.51) neutral(0.009) HMMPfam_Myosin_tail_1 PIK3R5 23533 genome.wustl.edu 37 17 8791958 8791958 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142633.1 -1 validated p.G382 1.000 13 0% 20 35% 1 0% - - - HMMPfam_PI3K_1B_p101 STX8 9482 genome.wustl.edu 37 17 9460797 9460797 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004853.2 -1 reviewed p.A56T 1.000 84 0% 51 39.2% 45 40% benign(0) tolerated(0.55) neutral(0.007) NULL WDR16 146845 genome.wustl.edu 37 17 9490152 9490152 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145054.4 +1 validated e3+1 1.000 185 0% 170 33.5% 0 - - - - - WDR16 146845 genome.wustl.edu 37 17 9545080 9545080 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145054.4 +1 validated p.E539* 1.000 83 0% 87 39.1% 1 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like WDR16 146845 genome.wustl.edu 37 17 9546490 9546490 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145054.4 +1 validated p.R613Q 0.890 110 0% 96 26% 0 - possibly_damaging(0.938) deleterious(0.01) deleterious(0.789) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 RCVRN 5957 genome.wustl.edu 37 17 9808141 9808141 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002903.2 -1 reviewed p.K119N 0.512 88 0% 96 43.8% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand MYH13 8735 genome.wustl.edu 37 17 10214497 10214497 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003802.2 -1 validated p.L1527F 1.000 111 0% 99 30.3% 0 - benign(0.072) deleterious(0) neutral(0.450) HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH13 8735 genome.wustl.edu 37 17 10224880 10224880 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003802.2 -1 validated p.I1027T 1.000 362 0% 275 31.3% 0 - benign(0) tolerated(0.33) neutral(0.024) superfamily_Prefoldin MYH13 8735 genome.wustl.edu 37 17 10267773 10267773 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003802.2 -1 validated p.I25 0.893 89 0% 87 29.9% 0 - - - - NULL MYH8 4626 genome.wustl.edu 37 17 10303779 10303779 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002472.2 -1 reviewed p.E1221D 1.000 237 0% 187 32.1% 0 - probably_damaging(0.997) tolerated(0.11) deleterious(0.738) HMMPfam_Myosin_tail_1 MYH8 4626 genome.wustl.edu 37 17 10304727 10304727 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002472.2 -1 reviewed p.T991 0.983 236 0% 231 31.6% 0 - - - - NULL MYH8 4626 genome.wustl.edu 37 17 10315785 10315785 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002472.2 -1 reviewed p.L440M 1.000 587 0% 486 31.5% 0 - possibly_damaging(0.874) tolerated(0.11) deleterious(0.611) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH4 4622 genome.wustl.edu 37 17 10350473 10350473 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017533.2 -1 validated p.A1676T 1.000 143 0% 123 26.8% 0 - benign(0.002) tolerated(0.19) neutral(0.050) HMMPfam_Myosin_tail_1 MYH4 4622 genome.wustl.edu 37 17 10368886 10368886 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017533.2 -1 validated p.V126 1.000 198 0% 180 38.3% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10408518 10408518 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005963.3 -1 reviewed p.F799L 1.000 226 0% 202 30.2% 0 - benign(0.003) tolerated(0.13) neutral(0.253) HMMPfam_IQ,HMMSmart_IQ,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10411907 10411907 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005963.3 -1 reviewed p.E557A 1.000 99 0% 79 22.8% 0 - benign(0.048) tolerated(0.06) neutral(0.326) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10411990 10411990 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005963.3 -1 reviewed e14-1 1.000 92 0% 66 33.3% 0 - - - - - MYH1 4619 genome.wustl.edu 37 17 10419767 10419767 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005963.3 -1 reviewed p.E65K 0.989 361 0% 290 31.7% 0 - benign(0.176) tolerated(0.84) neutral(0.017) HMMPfam_Myosin_N,superfamily_SSF52540 MYH2 4620 genome.wustl.edu 37 17 10428356 10428356 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100112.1 -1 reviewed p.K1563N 1.000 219 0% 148 27% 0 - benign(0.085) deleterious(0) neutral(0.451) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10430107 10430107 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100112.1 -1 reviewed p.K1332N 1.000 166 0% 157 35.7% 2 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10432765 10432765 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100112.1 -1 reviewed p.R1051C 1.000 166 0% 129 33.3% 0 - benign(0.02) deleterious(0) neutral(0.446) NULL MYH2 4620 genome.wustl.edu 37 17 10433162 10433162 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100112.1 -1 reviewed p.A976V 1.000 446 0% 325 25.2% 0 - probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL MYH3 4621 genome.wustl.edu 37 17 10535182 10535182 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002470.2 -1 reviewed p.A1703V 1.000 164 0% 133 29.3% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_Myosin_tail_1 MYH3 4621 genome.wustl.edu 37 17 10541715 10541715 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002470.2 -1 reviewed p.A1125V 1.000 74 1.4% 49 26.5% 0 - possibly_damaging(0.764) deleterious(0) deleterious(0.728) HMMPfam_Myosin_tail_1 MYH3 4621 genome.wustl.edu 37 17 10542276 10542276 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002470.2 -1 reviewed p.D1085Y 1.000 130 0% 96 10.4% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_Myosin_tail_1 MYH3 4621 genome.wustl.edu 37 17 10543378 10543378 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002470.2 -1 reviewed p.E873K 1.000 179 0% 130 30% 0 - possibly_damaging(0.568) deleterious(0.04) deleterious(0.543) NULL MYH3 4621 genome.wustl.edu 37 17 10547728 10547728 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002470.2 -1 reviewed p.T450 0.011 210 0% 225 32% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH3 4621 genome.wustl.edu 37 17 10550730 10550730 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002470.2 -1 reviewed p.R250Q 1.000 154 0% 164 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 DNAH9 1770 genome.wustl.edu 37 17 11523036 11523036 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001372.3 +1 reviewed p.F430I 1.000 226 0% 230 28.3% 0 - benign(0.003) deleterious(0) neutral(0.445) HMMPfam_DHC_N1 DNAH9 1770 genome.wustl.edu 37 17 11593208 11593208 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001372.3 +1 reviewed p.T1357P 0.127 67 0% 77 29.9% 0 - benign(0.029) tolerated(0.27) neutral(0.035) HMMPfam_DHC_N2 DNAH9 1770 genome.wustl.edu 37 17 11597208 11597208 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001372.3 +1 reviewed p.I1546 0.996 265 0% 226 26.5% 1 100% - - - HMMPfam_DHC_N2 DNAH9 1770 genome.wustl.edu 37 17 11597682 11597682 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001372.3 +1 reviewed p.K1597T 1.000 156 0% 166 34.3% 0 - benign(0.001) deleterious(0) neutral(0.445) HMMPfam_DHC_N2 DNAH9 1770 genome.wustl.edu 37 17 11835517 11835517 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001372.3 +1 reviewed p.A4098T 0.000 97 0% 158 26.6% 0 - benign(0.025) tolerated(0.09) neutral(0.297) HMMPfam_Dynein_heavy,PatternScan_CPSASE_2 DNAH9 1770 genome.wustl.edu 37 17 11865483 11865483 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001372.3 +1 reviewed p.T4381 0.019 182 0% 128 22.7% 0 - - - - HMMPfam_Dynein_heavy ENSG00000205325 0 genome.wustl.edu 37 17 14683245 14683245 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000379640 -1 known p.R81Q 0.000 144 0.7% 118 38.1% 0 - unknown(0) - - NULL CDRT1 374286 genome.wustl.edu 37 17 15501935 15501935 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006382.3 -1 provisional p.R489Q 0.933 169 0% 128 15.6% 0 - unknown(0) deleterious(0.05) - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CDRT1 374286 genome.wustl.edu 37 17 15522425 15522425 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006382.3 -1 provisional p.A134 0.151 242 0% 244 23.8% 0 - - - - NULL NCOR1 9611 genome.wustl.edu 37 17 15943783 15943783 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006311.2 -1 reviewed p.I2235 1.000 47 0% 42 23.8% 25 56% - - - NULL NCOR1 9611 genome.wustl.edu 37 17 15965425 15965425 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006311.2 -1 reviewed p.R1794Q 0.995 306 0% 400 31.5% 12 41.6% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL LOC100133337 100133337 genome.wustl.edu 37 17 16285581 16285581 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001722331.2 -1 model p.D124N 1.000 137 0% 174 31.6% 405 0% - - - NULL UBB 7314 genome.wustl.edu 37 17 16285838 16285838 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018955.2 +1 reviewed p.R206H 1.000 91 3.3% 118 26.3% 206 0% possibly_damaging(0.583) - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like ZNF287 57336 genome.wustl.edu 37 17 16467135 16467135 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020653.2 -1 validated p.S169L 1.000 86 0% 112 16.1% 1 0% benign(0.001) tolerated(0.38) neutral(0.018) superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF624 57547 genome.wustl.edu 37 17 16525619 16525619 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020787.2 -1 validated p.E861* 1.000 278 0% 204 25.5% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF624 57547 genome.wustl.edu 37 17 16526186 16526186 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020787.2 -1 validated p.E672K 0.959 247 0.4% 198 32.8% 2 0% benign(0.234) tolerated(0.12) neutral(0.284) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CCDC144A 9720 genome.wustl.edu 37 17 16593801 16593801 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014695.1 +1 provisional p.V29 0.020 54 0% 51 41.2% 0 - - - - NULL CCDC144A 9720 genome.wustl.edu 37 17 16608588 16608588 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014695.1 +1 provisional p.E180A 0.727 476 0.2% 423 21.5% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL CCDC144A 9720 genome.wustl.edu 37 17 16664772 16664772 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014695.1 +1 provisional p.S1136P 0.957 78 0% 89 11.2% 0 - possibly_damaging(0.604) tolerated(0.1) deleterious(0.496) NULL CCDC144A 9720 genome.wustl.edu 37 17 16665751 16665751 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014695.1 +1 provisional p.S1264L 0.096 59 0% 51 56.9% 0 - benign(0.202) tolerated(0.19) neutral(0.069) NULL MPRIP 23164 genome.wustl.edu 37 17 17062156 17062156 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015134.2 +1 validated p.T629M 0.028 22 0% 15 40% 35 28.5% possibly_damaging(0.888) tolerated(0.05) deleterious(0.693) NULL NT5M 56953 genome.wustl.edu 37 17 17209886 17209886 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020201.3 +1 reviewed p.K99N 1.000 156 0% 178 24.2% 0 - possibly_damaging(0.437) tolerated(0.08) neutral(0.443) HMMPfam_NT5C,superfamily_SSF56784 TOM1L2 146691 genome.wustl.edu 37 17 17764809 17764809 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001082968.1 -1 validated p.R420Q 1.000 47 0% 40 45% 7 14.2% probably_damaging(0.997) tolerated(0.16) deleterious(0.526) NULL MYO15A 51168 genome.wustl.edu 37 17 18059602 18059602 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016239.3 +1 reviewed p.A2851 0.001 70 0% 47 48.9% 0 - - - - NULL LOC645139 645139 genome.wustl.edu 37 17 18553877 18553877 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_928169.3 +1 model p.D163E 0.996 119 0% 146 29.5% 0 - - - - superfamily_ARM repeat ZNF286B 729288 genome.wustl.edu 37 17 18565413 18565413 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145045.1 -1 validated p.C469F 0.960 97 0% 103 33% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF286B 729288 genome.wustl.edu 37 17 18566276 18566276 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145045.1 -1 validated p.M181I 0.985 120 0% 126 25.4% 0 - - - - NULL ENSG00000248683 0 genome.wustl.edu 37 17 18574704 18574704 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000507743 +1 novel NULL 0.999 128 0% 116 25.9% 9 0% - - - - ENSG00000248683 0 genome.wustl.edu 37 17 18575548 18575548 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000507743 +1 novel NULL 1.000 33 0% 45 26.7% 4 0% - - - - SNORA59B 677882 genome.wustl.edu 37 17 19461007 19461007 + RNA SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_003022.1 +1 provisional NULL 0.000 244 0% 226 10.2% 0 - - - - - SLC47A2 146802 genome.wustl.edu 37 17 19584902 19584902 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152908.3 -1 validated p.G452C 0.919 79 0% 89 27% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MatE ULK2 9706 genome.wustl.edu 37 17 19728424 19728424 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142610.1 -1 reviewed p.R303C 1.000 91 1.1% 100 29% 5 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Protein kinase-like (PK-like) ULK2 9706 genome.wustl.edu 37 17 19769100 19769100 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142610.1 -1 reviewed p.K44N 1.000 40 0% 36 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AKAP10 11216 genome.wustl.edu 37 17 19823392 19823392 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007202.2 -1 reviewed p.F597L 1.000 106 0% 85 17.6% 4 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL AKAP10 11216 genome.wustl.edu 37 17 19871735 19871735 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007202.2 -1 reviewed p.S43F 1.000 195 0% 143 25.9% 4 100% benign(0.167) tolerated(0.08) neutral(0.315) NULL CCDC144C 348254 genome.wustl.edu 37 17 20224876 20224876 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000425519 +1 known p.E83K 0.000 141 0% 98 26.5% 0 - benign(0.099) deleterious(0) neutral(0.452) NULL CCDC144C 348254 genome.wustl.edu 37 17 20239197 20239197 + Missense_Mutation SNP G G T rs55898632 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000425519 +1 known p.K156N 0.004 365 0% 338 25.1% 0 - possibly_damaging(0.951) deleterious(0) deleterious(0.839) NULL CCDC144C 348254 genome.wustl.edu 37 17 20268521 20268521 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000425519 +1 known p.K660N 0.978 123 0% 99 29.3% 0 - benign(0.307) tolerated(0.3) neutral(0.124) NULL CCDC144C 348254 genome.wustl.edu 37 17 20295061 20295061 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000425519 +1 known p.E1026K 0.267 264 0% 278 22.3% 0 - possibly_damaging(0.948) tolerated(0.07) deleterious(0.710) NULL USP22 23326 genome.wustl.edu 37 17 20924446 20924446 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015276.1 -1 validated p.R133Q 1.000 68 0% 41 24.4% 27 44.4% benign(0.137) tolerated(0.41) neutral(0.026) NULL MAP2K3 5606 genome.wustl.edu 37 17 21206544 21206544 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145109.2 +1 reviewed p.R189I 1.000 28 0% 22 22.7% 80 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LOC440419 440419 genome.wustl.edu 37 17 25755726 25755726 + RNA SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_040504.2 +1 model NULL 1.000 120 0% 73 12.3% 0 - - - - - LOC440419 440419 genome.wustl.edu 37 17 25758261 25758261 + RNA SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_040504.2 +1 model NULL 0.023 23 0% 34 44.1% 0 - - - - - KSR1 8844 genome.wustl.edu 37 17 25932694 25932694 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014238.1 +1 validated p.R502C 1.000 17 0% 15 40% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like KSR1 8844 genome.wustl.edu 37 17 25936278 25936278 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398988 +1 known p.R452C 0.978 75 0% 77 33.8% 2 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like) NOS2 4843 genome.wustl.edu 37 17 26099450 26099450 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000625.4 -1 reviewed p.R530C 0.961 23 0% 26 19.2% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL NOS2 4843 genome.wustl.edu 37 17 26109129 26109129 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000625.4 -1 reviewed p.F212V 1.000 72 0% 47 31.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain NOS2 4843 genome.wustl.edu 37 17 26114738 26114738 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000625.4 -1 reviewed p.E145K 0.990 157 0% 148 30.4% 0 - benign(0.062) deleterious(0.05) neutral(0.349) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain TMEM199 147007 genome.wustl.edu 37 17 26688179 26688179 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152464.1 +1 provisional p.R178W 0.990 40 0% 31 32.3% 24 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC46A1 113235 genome.wustl.edu 37 17 26727661 26727661 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080669.3 -1 reviewed p.S430G 1.000 12 0% 24 33.3% 8 87.5% - - - NULL SLC13A2 9058 genome.wustl.edu 37 17 26800822 26800822 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003984.3 +1 validated p.V31A 0.672 58 0% 62 30.6% 0 - benign(0.013) tolerated(0.81) neutral(0.001) HMMPfam_Na_sulph_symp SLC13A2 9058 genome.wustl.edu 37 17 26820718 26820718 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003984.3 +1 validated p.F336 0.256 114 0% 86 31.4% 0 - - - - HMMPfam_Na_sulph_symp ALDOC 230 genome.wustl.edu 37 17 26901108 26901108 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005165.2 -1 reviewed p.R259H 1.000 138 0% 107 39.3% 7 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Glycolytic,superfamily_Aldolase SPAG5 10615 genome.wustl.edu 37 17 26905499 26905499 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006461.3 -1 reviewed p.A1082 0.894 178 0% 232 29.3% 16 43.7% - - - NULL NEK8 284086 genome.wustl.edu 37 17 27067575 27067575 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178170.2 +1 reviewed p.I504 0.434 85 0% 56 16.1% 1 0% - - - superfamily_RCC1/BLIP-II PHF12 57649 genome.wustl.edu 37 17 27238154 27238154 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033561.1 -1 validated p.R731* 1.000 57 0% 54 25.9% 18 33.3% - - - NULL PHF12 57649 genome.wustl.edu 37 17 27244400 27244400 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033561.1 -1 validated p.S346L 1.000 134 0% 134 26.1% 6 33.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SSH2 85464 genome.wustl.edu 37 17 28011621 28011621 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033389.2 -1 reviewed p.E120* 1.000 208 0% 230 33.9% 1 0% - - - NULL NSRP1 84081 genome.wustl.edu 37 17 28511782 28511782 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032141.2 +1 validated p.A256V 0.997 164 0% 187 33.2% 15 26.6% benign(0) tolerated(0.05) neutral(0.345) NULL BLMH 642 genome.wustl.edu 37 17 28601146 28601146 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000386.2 -1 reviewed p.D239Y 1.000 184 0% 164 32.9% 15 20% possibly_damaging(0.86) deleterious(0) deleterious(0.777) HMMPfam_Peptidase_C1_2,superfamily_Cysteine proteinases ATAD5 79915 genome.wustl.edu 37 17 29220814 29220814 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024857.3 +1 provisional p.S1648Y 1.000 203 0% 190 28.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATAD5 79915 genome.wustl.edu 37 17 29221689 29221689 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024857.3 +1 provisional p.R1802Q 1.000 95 0% 105 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TEFM 79736 genome.wustl.edu 37 17 29226437 29226437 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024683.3 -1 validated p.R278Q 0.294 201 0% 143 55.2% 11 72.7% probably_damaging(0.962) tolerated(0.19) neutral(0.455) superfamily_Ribonuclease H-like RNF135 84282 genome.wustl.edu 37 17 29325917 29325917 + Missense_Mutation SNP G G A rs140592050 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032322.3 +1 reviewed p.R336H 0.003 83 0% 119 37.8% 20 45% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SPRY NF1 4763 genome.wustl.edu 37 17 29541595 29541595 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042492.2 +1 reviewed p.L507V 0.998 129 0% 79 30.4% 0 - benign(0.005) tolerated(0.11) neutral(0.272) NULL OMG 4974 genome.wustl.edu 37 17 29622906 29622906 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002544.4 -1 validated p.L148 0.545 503 0% 485 30.9% 0 - - - - HMMSmart_LRR_TYP,superfamily_SSF52058 NF1 4763 genome.wustl.edu 37 17 29664427 29664427 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042492.2 +1 reviewed p.S2157P 1.000 91 0% 84 29.8% 13 38.4% probably_damaging(0.983) deleterious(0.03) deleterious(0.793) NULL NF1 4763 genome.wustl.edu 37 17 29687547 29687547 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042492.2 +1 reviewed p.L2735I 1.000 282 0% 253 32.4% 21 23.8% probably_damaging(0.964) deleterious(0.04) deleterious(0.755) NULL LRRC37B 114659 genome.wustl.edu 37 17 30348719 30348721 + In_Frame_Del DEL TTG TTG - novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052888.2 +1 validated p.V187in_frame_del 0.024:0.035:0.047 - - - - - - - - - NULL LRRC37B 114659 genome.wustl.edu 37 17 30354829 30354829 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052888.2 +1 validated p.S598* 0.999 283 0% 282 19.9% 0 - - - - HMMSmart_SM00369,superfamily_L domain-like RHOT1 55288 genome.wustl.edu 37 17 30530924 30530924 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033568.1 +1 validated p.R450C 1.000 91 0% 68 27.9% 24 45.8% possibly_damaging(0.836) tolerated(0.06) deleterious(0.642) HMMPfam_Miro,superfamily_SSF52540 RHBDL3 162494 genome.wustl.edu 37 17 30611700 30611700 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138328.2 +1 validated p.Y53C 0.997 22 0% 29 24.1% 0 - probably_damaging(0.968) tolerated(0.17) deleterious(0.469) superfamily_SSF47473 PSMD11 5717 genome.wustl.edu 37 17 30804556 30804556 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000457654 +1 known p.R27C 1.000 170 0% 128 25.8% 106 52.8% - - - HMMPfam_PCI MYO1D 4642 genome.wustl.edu 37 17 31048192 31048192 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015194.1 -1 provisional p.R588C 1.000 161 0% 168 32.1% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1D 4642 genome.wustl.edu 37 17 31075976 31075976 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015194.1 -1 provisional p.R506* 0.992 303 0% 271 29.9% 8 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1D 4642 genome.wustl.edu 37 17 31087319 31087319 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015194.1 -1 provisional p.P429S 1.000 1096 0% 1057 28.9% 9 11.1% benign(0.183) tolerated(0.31) neutral(0.044) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1D 4642 genome.wustl.edu 37 17 31087349 31087349 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015194.1 -1 provisional p.E419* 1.000 1082 0% 1051 33.9% 12 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1D 4642 genome.wustl.edu 37 17 31087410 31087410 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015194.1 -1 provisional p.F398L 1.000 833 0.1% 841 16.4% 13 15.3% possibly_damaging(0.639) tolerated(0.3) neutral(0.252) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TMEM98 26022 genome.wustl.edu 37 17 31267874 31267874 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033504.1 +1 validated p.G182S 1.000 151 0% 135 21.5% 34 0% benign(0) tolerated(1) - NULL ENSG00000226049 0 genome.wustl.edu 37 17 32366316 32366316 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000430493 -1 known p.E135D 0.994 216 0% 152 25.7% 4 0% - - - NULL ENSG00000226049 0 genome.wustl.edu 37 17 32366698 32366698 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000430493 -1 known p.R64I 1.000 134 0% 89 28.1% 0 - - - - NULL CCL11 6356 genome.wustl.edu 37 17 32612836 32612836 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002986.2 +1 reviewed p.V3 0.000 464 0% 355 27.6% 40 0% - - - NULL CCL13 6357 genome.wustl.edu 37 17 32684605 32684605 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005408.2 +1 reviewed p.V63A 0.897 252 0% 191 28.8% 8 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines LIG3 3980 genome.wustl.edu 37 17 33318844 33318844 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013975.2 +1 reviewed p.D399G 1.000 108 0% 133 26.3% 5 20% benign(0.007) tolerated(0.31) neutral(0.027) HMMPfam_DNA_ligase_A_N SLC35G3 146861 genome.wustl.edu 37 17 33520926 33520926 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152462.2 -1 validated p.R134H 1.000 256 0% 204 30.4% 0 - possibly_damaging(0.7) tolerated(0.18) neutral(0.307) HMMPfam_DUF6,superfamily_Multidrug resistance efflux transporter EmrE SLFN11 91607 genome.wustl.edu 37 17 33680395 33680395 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001104587.1 -1 validated p.L628I 0.576 315 0% 258 23.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases AP2B1 163 genome.wustl.edu 37 17 33925338 33925338 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001030006.1 +1 reviewed p.V43M 1.000 106 0% 75 22.7% 37 37.8% possibly_damaging(0.729) tolerated(0.14) deleterious(0.515) HMMPfam_Adaptin_N,superfamily_ARM repeat TAF15 8148 genome.wustl.edu 37 17 34147191 34147191 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139215.1 +1 reviewed p.T41 0.335 170 0% 194 25.3% 51 15.6% - - - NULL C17orf66 256957 genome.wustl.edu 37 17 34182345 34182345 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152781.2 -1 validated p.L479F 0.030 526 0% 515 33.2% 0 - benign(0.001) tolerated(0.32) neutral(0.024) NULL CCL14 6358 genome.wustl.edu 37 17 34313661 34313661 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032962.4 -1 reviewed p.P9S 0.009 91 0% 95 32.6% 0 - benign(0.001) tolerated(1) - NULL GGNBP2 79893 genome.wustl.edu 37 17 34935745 34935745 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024835.2 +1 validated p.L306I 1.000 196 0% 221 30.3% 27 44.4% possibly_damaging(0.772) tolerated(0.24) neutral(0.324) NULL GGNBP2 79893 genome.wustl.edu 37 17 34945767 34945767 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024835.2 +1 validated p.N674D 1.000 229 0% 200 27.5% 51 41.1% benign(0.252) tolerated(0.17) neutral(0.085) NULL ACACA 31 genome.wustl.edu 37 17 35454050 35454050 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198834.1 -1 reviewed p.R2258C 1.000 72 0% 78 32.1% 12 8.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carboxyl_trans,superfamily_SSF52096 ACACA 31 genome.wustl.edu 37 17 35506830 35506830 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198834.1 -1 reviewed p.E1879D 1.000 284 0% 277 31% 12 91.6% benign(0.008) tolerated(0.14) neutral(0.249) HMMPfam_Carboxyl_trans,superfamily_SSF52096 ACACA 31 genome.wustl.edu 37 17 35578754 35578754 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198834.1 -1 reviewed p.R1192* 1.000 139 0% 108 31.5% 3 0% - - - HMMPfam_ACC_central ACACA 31 genome.wustl.edu 37 17 35591977 35591977 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198834.1 -1 reviewed p.E1053D 1.000 133 0% 140 30.7% 3 0% benign(0.025) tolerated(0.1) neutral(0.287) HMMPfam_ACC_central TADA2A 6871 genome.wustl.edu 37 17 35831231 35831231 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001488.3 +1 reviewed p.A354 1.000 62 0% 47 23.4% 9 44.4% - - - NULL SYNRG 11276 genome.wustl.edu 37 17 35879084 35879084 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007247.4 -1 reviewed p.E1302K 1.000 261 0% 213 33.8% 10 30% possibly_damaging(0.947) tolerated(0.1) deleterious(0.677) NULL GPR179 440435 genome.wustl.edu 37 17 36483472 36483472 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004334.2 -1 validated p.A1994T 0.000 161 0% 177 31.1% 0 - benign(0.001) tolerated(0.5) neutral(0.010) NULL SRCIN1 80725 genome.wustl.edu 37 17 36708268 36708268 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025248.2 -1 validated p.E861K 0.998 50 0% 41 34.1% 1 100% benign(0.047) tolerated(0.21) neutral(0.047) NULL LASP1 3927 genome.wustl.edu 37 17 37074894 37074894 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006148.2 +1 validated p.D217N 1.000 60 0% 75 33.3% 81 24.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CACNB1 782 genome.wustl.edu 37 17 37340098 37340098 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000723.3 -1 reviewed p.I306 0.375 28 0% 40 30% 0 - - - - HMMPfam_Ca_channel_B,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases CACNB1 782 genome.wustl.edu 37 17 37341040 37341040 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000723.3 -1 reviewed p.Y242 0.998 65 0% 61 36.1% 0 - - - - HMMPfam_Ca_channel_B,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases CDK12 51755 genome.wustl.edu 37 17 37618947 37618947 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016507.2 +1 validated p.K208T 1.000 209 0% 238 22.7% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ERBB2 2064 genome.wustl.edu 37 17 37884261 37884261 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004448.2 +1 reviewed p.E1244D 1.000 77 0% 65 32.3% 139 44.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GSDMB 55876 genome.wustl.edu 37 17 38061210 38061210 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042471.1 -1 reviewed p.S356Y 0.000 254 0% 284 28.2% 4 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Gasdermin GSDMA 284110 genome.wustl.edu 37 17 38127835 38127835 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178171.4 +1 validated p.R206Q 1.000 212 0.5% 212 35.4% 1 0% probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMPfam_Gasdermin PSMD3 5709 genome.wustl.edu 37 17 38146393 38146393 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002809.2 +1 reviewed p.T308 0.710 109 0% 118 29.7% 259 41.6% - - - HMMSmart_SM00753,superfamily_TPR-like MED24 9862 genome.wustl.edu 37 17 38183243 38183243 + Silent SNP G G A rs142434171 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014815.3 -1 reviewed p.F525 1.000 65 0% 52 30.8% 46 34.7% - - - NULL TOP2A 7153 genome.wustl.edu 37 17 38556217 38556217 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001067.2 -1 reviewed p.E1035* 1.000 83 0% 67 35.8% 13 0% - - - HMMPfam_DNA_topoisoIV,HMMSmart_SM00434,superfamily_Type II DNA topoisomerase IGFBP4 3487 genome.wustl.edu 37 17 38609323 38609323 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001552.2 +1 reviewed p.I146L 0.445 100 0% 103 28.2% 154 0% benign(0) tolerated(0.67) neutral(0.003) superfamily_Thyroglobulin_1 KRT25 147183 genome.wustl.edu 37 17 38906816 38906816 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181534.3 -1 reviewed p.E331K 0.518 344 0% 304 26% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Filament KRT25 147183 genome.wustl.edu 37 17 38910212 38910212 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181534.3 -1 reviewed p.R190Q 0.998 277 0% 238 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT26 353288 genome.wustl.edu 37 17 38927483 38927483 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181539.4 -1 reviewed p.I149M 0.147 61 0% 50 36% 0 - benign(0.088) tolerated(0.09) neutral(0.303) HMMPfam_Filament KRT28 162605 genome.wustl.edu 37 17 38948759 38948759 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181535.3 -1 reviewed p.L439I 0.968 73 0% 81 33.3% 0 - possibly_damaging(0.573) tolerated(0.33) neutral(0.221) NULL KRT12 3859 genome.wustl.edu 37 17 39021103 39021103 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000223.3 -1 reviewed p.E254 0.040 161 0% 135 29.6% 0 - - - - HMMPfam_Filament KRT23 25984 genome.wustl.edu 37 17 39084546 39084546 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015515.3 -1 reviewed p.E289K 1.000 180 0% 148 25% 41 56% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Filament KRTAP4-4 84616 genome.wustl.edu 37 17 39316881 39316881 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032524.1 -1 reviewed p.C21 0.669 169 0% 156 34% 0 - - - - HMMPfam_Keratin_B2 KRTAP9-4 85280 genome.wustl.edu 37 17 39406434 39406434 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033191.2 +1 reviewed p.C154 0.066 428 0.2% 413 35.4% 0 - - - - NULL KRT33A 3883 genome.wustl.edu 37 17 39503152 39503152 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004138.2 -1 reviewed p.E274K 0.986 158 0% 136 30.9% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_Filament KRT33B 3884 genome.wustl.edu 37 17 39521726 39521726 + Missense_Mutation SNP T T G rs61741663 byCluster;byFrequency;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002279.3 -1 reviewed p.Q223P 0.094 122 0% 104 35.6% 0 - benign(0.023) deleterious(0) neutral(0.446) HMMPfam_Filament KRT33B 3884 genome.wustl.edu 37 17 39525807 39525807 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002279.3 -1 reviewed p.R66C 1.000 193 0% 149 28.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT34 3885 genome.wustl.edu 37 17 39535249 39535249 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021013.3 -1 reviewed p.E394D 1.000 381 0% 436 14.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT37 8688 genome.wustl.edu 37 17 39578410 39578410 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003770.4 -1 reviewed p.E311K 0.132 159 0% 153 32.7% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Filament KRT38 8687 genome.wustl.edu 37 17 39596907 39596907 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006771.3 -1 reviewed p.I89 0.000 77 1.3% 74 27% 0 - - - - NULL KRT15 3866 genome.wustl.edu 37 17 39672425 39672425 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002275.3 -1 reviewed p.E277D 0.996 167 0% 145 30.3% 6 16.6% benign(0.067) tolerated(0.47) neutral(0.015) superfamily_Prefoldin,HMMPfam_Filament KRT15 3866 genome.wustl.edu 37 17 39673065 39673065 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002275.3 -1 reviewed p.E245K 1.000 112 0% 69 18.8% 4 25% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) superfamily_Prefoldin,HMMPfam_Filament KRT19 3880 genome.wustl.edu 37 17 39681449 39681449 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002276.4 -1 reviewed p.R166Q 0.988 138 0% 111 12.6% 5371 15.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Filament KRT9 3857 genome.wustl.edu 37 17 39723975 39723975 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000226.3 -1 reviewed p.G474 0.002 134 0% 136 26.5% 0 - - - - NULL KRT9 3857 genome.wustl.edu 37 17 39726123 39726123 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000226.3 -1 reviewed p.K290N 1.000 279 0% 241 32% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Filament FKBP10 60681 genome.wustl.edu 37 17 39974766 39974766 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021939.3 +1 reviewed p.G238 1.000 21 0% 28 25% 54 0% - - - HMMPfam_FKBP_C,superfamily_SSF54534 TTC25 83538 genome.wustl.edu 37 17 40117143 40117143 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000377543 +1 known p.A554G 0.000 41 0% 37 27% 0 - - - - NULL DHX58 79132 genome.wustl.edu 37 17 40261295 40261295 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024119.2 -1 validated p.R224H 0.932 11 0% 12 58.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 KAT2A 2648 genome.wustl.edu 37 17 40271683 40271683 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021078.2 -1 validated p.R251 1.000 91 0% 111 34.2% 22 54.5% - - - HMMPfam_PCAF_N STAT3 6774 genome.wustl.edu 37 17 40486033 40486033 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139276.2 -1 reviewed p.R278C 0.989 63 0% 58 22.4% 44 31.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_STAT_alpha,superfamily_STAT MLX 6945 genome.wustl.edu 37 17 40720843 40720843 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000429573 +1 known p.S15Y 0.070 15 0% 16 50% 1 100% - - - NULL CNTNAP1 8506 genome.wustl.edu 37 17 40843867 40843867 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003632.2 +1 reviewed p.L796 0.004 844 0% 693 28.9% 2 0% - - - superfamily_ConA_like_lec_gl BRCA1 672 genome.wustl.edu 37 17 41243774 41243774 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007294.3 -1 reviewed p.E1258D 0.348 383 0% 425 15.5% 4 0% benign(0.017) tolerated(0.36) neutral(0.021) NULL BRCA1 672 genome.wustl.edu 37 17 41244562 41244562 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007294.3 -1 reviewed p.K996Q 0.000 294 0% 351 31.1% 8 62.5% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) NULL NBR2 10230 genome.wustl.edu 37 17 41291903 41291903 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000356906 +1 known p.D85G 0.082 7 0.000 14 0.357 5 60% unknown(0) - - NULL NBR1 4077 genome.wustl.edu 37 17 41338323 41338323 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005899.3 +1 reviewed p.V88 0.004 27 0% 35 34.3% 22 45.4% - - - NULL ETV4 2118 genome.wustl.edu 37 17 41607297 41607297 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079675.1 -1 validated p.R304* 0.002 329 0% 290 32.1% 13 7.6% - - - HMMPfam_ETS_PEA3_N MPP2 4355 genome.wustl.edu 37 17 41958118 41958118 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005374.3 -1 reviewed p.R364H 1.000 110 0% 90 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases LSM12 124801 genome.wustl.edu 37 17 42114872 42114872 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152344.3 -1 validated p.V135I 1.000 144 0% 204 49% 48 72.9% benign(0.001) tolerated(0.54) neutral(0.007) HMMPfam_AD HDAC5 10014 genome.wustl.edu 37 17 42156562 42156562 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001015053.1 -1 reviewed p.A1011T 1.000 37 0% 48 33.3% 44 31.8% possibly_damaging(0.487) deleterious(0) deleterious(0.607) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase UBTF 7343 genome.wustl.edu 37 17 42285234 42285234 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014233.2 -1 validated p.N651D 1.000 284 0% 353 44.8% 63 57.1% benign(0.045) tolerated(0.39) neutral(0.018) superfamily_HMG-box ITGA2B 3674 genome.wustl.edu 37 17 42458283 42458283 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000419.3 -1 reviewed p.R453* 0.237 130 0% 164 28% 0 - - - - HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain C17orf104 284071 genome.wustl.edu 37 17 42744335 42744335 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145080.2 +1 validated p.K352N 0.842 98 0% 80 31.2% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL C1QL1 10882 genome.wustl.edu 37 17 43037694 43037694 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006688.3 -1 provisional p.Y213 0.960 34 0% 60 20% 1 0% - - - HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like ACBD4 79777 genome.wustl.edu 37 17 43214439 43214439 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135704.1 +1 reviewed p.F116 0.425 19 0% 25 28% 3 0% - - - NULL LOC100288229 100288229 genome.wustl.edu 37 17 43626407 43626407 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343565.1 -1 model p.S432Y 0.000 492 0% 508 26.4% 0 - - - - NULL SPPL2C 162540 genome.wustl.edu 37 17 43923141 43923141 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175882.2 +1 validated p.G290D 0.977 133 0% 91 17.6% 0 - benign(0.132) tolerated(0.24) neutral(0.049) HMMSmart_SM00730,HMMPfam_Peptidase_A22B SPPL2C 162540 genome.wustl.edu 37 17 43923304 43923304 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175882.2 +1 validated p.E344D 1.000 76 0% 71 33.8% 0 - possibly_damaging(0.76) tolerated(0.14) deleterious(0.530) HMMSmart_SM00730,HMMPfam_Peptidase_A22B SPPL2C 162540 genome.wustl.edu 37 17 43923691 43923691 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175882.2 +1 validated p.F473 0.000 139 0% 127 41.7% 0 - - - - HMMSmart_SM00730,HMMPfam_Peptidase_A22B KANSL1 284058 genome.wustl.edu 37 17 44108854 44108854 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015443.2 -1 validated p.P1102 0.279 33 0% 36 38.9% 9 11.1% - - - NULL KANSL1 284058 genome.wustl.edu 37 17 44143935 44143935 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015443.2 -1 validated p.R606* 1.000 102 0% 83 34.9% 6 0% - - - NULL ITGB3 3690 genome.wustl.edu 37 17 45361973 45361973 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000212.2 +1 reviewed p.R176W 1.000 276 0.4% 297 31% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like ENSG00000228782 0 genome.wustl.edu 37 17 45560440 45560440 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000425159 -1 known p.D126Y 0.996 325 0.3% 323 26.3% 30 0% - - - HMMPfam_Tim44 TBKBP1 9755 genome.wustl.edu 37 17 45785841 45785841 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014726.2 +1 validated p.I318 1.000 22 0% 22 27.3% 0 - - - - NULL PRR15L 79170 genome.wustl.edu 37 17 46030400 46030400 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024320.2 -1 provisional p.H67 0.950 179 0% 117 36.8% 10 80% - - - NULL HOXB3 3213 genome.wustl.edu 37 17 46629646 46629646 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002146.4 -1 reviewed p.A64D 1.000 62 0% 55 29.1% 3 66.6% benign(0.086) tolerated(0.2) neutral(0.056) NULL MIR10A 406902 genome.wustl.edu 37 17 46657217 46657217 + RNA SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000385043 -1 known NULL 1.000 67 0% 47 25.5% 0 - - - - - HOXB7 3217 genome.wustl.edu 37 17 46685238 46685238 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004502.3 -1 reviewed p.D207G 1.000 109 0% 143 23.8% 16 0% unknown(0) - - NULL MIR196A1 406972 genome.wustl.edu 37 17 46709859 46709859 + RNA SNP G G A rs186449583 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000388006 -1 known NULL 0.860 32 0% 18 27.8% 0 - - - - - TTLL6 284076 genome.wustl.edu 37 17 46846358 46846358 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130918.1 -1 validated p.R890M 0.752 138 0% 138 26.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL UBE2Z 65264 genome.wustl.edu 37 17 46990343 46990343 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023079.3 +1 validated p.N180D 1.000 105 0% 102 35.3% 51 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like LOC100131693 100131693 genome.wustl.edu 37 17 47502225 47502225 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001726582.1 -1 model p.E20D 0.999 280 0% 368 32.1% 2 0% - - - HMMPfam_IF4E,superfamily_Translation initiation factor eIF4e KAT7 11143 genome.wustl.edu 37 17 47895328 47895328 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007067.3 +1 provisional p.F370L 1.000 190 0% 140 24.3% 14 21.4% probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_Acyl-CoA N-acyltransferases (Nat) EPN3 55040 genome.wustl.edu 37 17 48618870 48618870 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017957.2 +1 validated p.G467V 0.915 119 0% 128 35.9% 20 30% benign(0.354) deleterious(0.01) deleterious(0.518) NULL ABCC3 8714 genome.wustl.edu 37 17 48733345 48733345 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003786.3 +1 reviewed p.L66 1.000 138 0% 103 45.6% 13 30.7% - - - NULL SPAG9 9043 genome.wustl.edu 37 17 49064593 49064593 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130528.2 -1 reviewed p.D940G 0.997 200 0.5% 205 31.2% 15 33.3% benign(0.02) tolerated(0.22) neutral(0.043) NULL MBTD1 54799 genome.wustl.edu 37 17 49272618 49272618 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017643.2 -1 validated p.V443 0.988 111 0% 123 18.7% 4 50% - - - HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT UTP18 51096 genome.wustl.edu 37 17 49357442 49357442 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016001.2 +1 validated p.G363 0.365 59 0% 52 38.5% 30 43.3% - - - HMMSmart_WD40,superfamily_WD40_like CA10 56934 genome.wustl.edu 37 17 50149677 50149677 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001082533.1 -1 reviewed e2+2 1.000 250 0% 174 25.3% 0 - - - - - CA10 56934 genome.wustl.edu 37 17 50149693 50149693 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001082533.1 -1 reviewed p.G41V 1.000 286 0% 189 24.9% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase KIF2B 84643 genome.wustl.edu 37 17 51901031 51901031 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032559.4 +1 validated p.R213C 0.060 91 0% 85 28.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF2B 84643 genome.wustl.edu 37 17 51901032 51901032 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032559.4 +1 validated p.R213H 0.124 90 0% 86 26.7% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF2B 84643 genome.wustl.edu 37 17 51901521 51901521 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032559.4 +1 validated p.V376A 1.000 168 0% 153 32.7% 0 - probably_damaging(0.973) tolerated(0.06) deleterious(0.738) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF2B 84643 genome.wustl.edu 37 17 51901609 51901609 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032559.4 +1 validated p.E405D 0.017 112 0% 112 31.2% 0 - benign(0.004) tolerated(0.27) neutral(0.034) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases TOM1L1 10040 genome.wustl.edu 37 17 53037970 53037970 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005486.2 +1 validated p.Q472* 0.000 291 0% 229 33.2% 34 58.8% - - - NULL HLF 3131 genome.wustl.edu 37 17 53345361 53345361 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002126.4 +1 reviewed p.S122L 0.994 141 0% 121 32.2% 0 - benign(0.011) tolerated(0.09) neutral(0.297) NULL DGKE 8526 genome.wustl.edu 37 17 54921517 54921517 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003647.2 +1 reviewed p.D201A 1.000 56 0% 64 25% 0 - benign(0.059) tolerated(0.75) neutral(0.005) NULL TRIM25 7706 genome.wustl.edu 37 17 54981686 54981686 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005082.4 -1 reviewed p.S286N 0.072 454 0% 429 26.6% 9 55.5% benign(0.001) tolerated(0.2) neutral(0.049) NULL SCPEP1 59342 genome.wustl.edu 37 17 55072981 55072981 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021626.2 +1 validated p.E257 0.683 102 0% 94 29.8% 23 4.3% - - - HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases EPX 8288 genome.wustl.edu 37 17 56270867 56270867 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000502.4 +1 reviewed p.E102D 0.749 193 0% 210 31.4% 0 - benign(0.103) tolerated(0.19) neutral(0.058) NULL MKS1 54903 genome.wustl.edu 37 17 56294036 56294036 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000313863 -1 known p.S85Y 1.000 94 0% 95 25.3% 13 46.1% - - - NULL MKS1 54903 genome.wustl.edu 37 17 56296012 56296012 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000313863 -1 known p.T54I 1.000 83 0% 79 36.7% 14 35.7% - - - NULL BZRAP1 9256 genome.wustl.edu 37 17 56387878 56387878 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004758.2 -1 validated p.A1232T 0.996 40 0% 23 30.4% 5 60% benign(0.386) deleterious(0.01) deleterious(0.529) NULL C17orf47 284083 genome.wustl.edu 37 17 56620968 56620968 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001038704.1 -1 predicted p.L194V 0.006 196 0% 233 34.8% 0 - benign(0.376) - - NULL TEX14 56155 genome.wustl.edu 37 17 56676845 56676845 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198393.2 -1 reviewed p.E621K 0.980 153 0% 159 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TEX14 56155 genome.wustl.edu 37 17 56692683 56692683 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198393.2 -1 reviewed p.V264A 1.000 121 0% 106 32.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like RAD51C 5889 genome.wustl.edu 37 17 56772357 56772357 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_058216.1 +1 reviewed p.N71D 0.601 194 0% 141 31.2% 20 25% benign(0) tolerated(0.82) neutral(0.001) NULL PPM1E 22843 genome.wustl.edu 37 17 57049634 57049634 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014906.3 +1 reviewed p.E372* 1.000 162 0% 142 29.6% 0 - - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C PPM1E 22843 genome.wustl.edu 37 17 57057922 57057922 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014906.3 +1 reviewed p.A600T 1.000 388 0% 370 33.8% 0 - possibly_damaging(0.739) tolerated(0.07) deleterious(0.590) NULL TRIM37 4591 genome.wustl.edu 37 17 57094720 57094720 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005207.2 -1 reviewed p.R775* 1.000 206 0% 216 25.5% 7 0% - - - NULL TRIM37 4591 genome.wustl.edu 37 17 57126585 57126585 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005207.2 -1 reviewed p.K495T 1.000 151 0% 127 31.5% 5 100% possibly_damaging(0.527) tolerated(0.12) neutral(0.439) NULL TUBD1 51174 genome.wustl.edu 37 17 57941101 57941101 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016261.2 -1 validated p.L395V 0.160 156 0% 115 17.4% 4 25% probably_damaging(0.994) tolerated(0.26) deleterious(0.486) superfamily_Tubulin C-terminal domain-like ENSG00000238283 0 genome.wustl.edu 37 17 58094560 58094560 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000407042 -1 known p.V46 0.005 114 0% 78 19.2% 0 - - - - NULL HEATR6 63897 genome.wustl.edu 37 17 58123397 58123397 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022070.4 -1 validated p.A988V 1.000 87 0% 97 36.1% 5 60% possibly_damaging(0.72) tolerated(0.49) neutral(0.272) superfamily_ARM-type_fold HEATR6 63897 genome.wustl.edu 37 17 58148146 58148146 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022070.4 -1 validated p.G241V 1.000 52 0% 60 23.3% 2 0% unknown(0) tolerated(0.08) - NULL USP32 84669 genome.wustl.edu 37 17 58258686 58258686 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032582.3 -1 validated p.S1516L 1.000 158 0% 154 31.2% 14 14.2% probably_damaging(0.978) tolerated(0.13) deleterious(0.673) HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_SSF54001 USP32 84669 genome.wustl.edu 37 17 58299847 58299847 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032582.3 -1 validated p.D558Y 1.000 371 0% 381 33.9% 7 42.8% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMSmart_DUSP,HMMPfam_DUF1055 C17orf64 124773 genome.wustl.edu 37 17 58506896 58506896 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181707.2 +1 validated p.R201 0.000 51 0% 29 17.2% 0 - - - - NULL PPM1D 8493 genome.wustl.edu 37 17 58740810 58740810 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003620.2 +1 reviewed p.R572Q 0.998 174 0% 168 12.5% 23 13% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BRIP1 83990 genome.wustl.edu 37 17 59761048 59761048 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032043.1 -1 reviewed p.D1120A 0.000 205 0% 190 34.2% 1 100% benign(0) tolerated(0.24) neutral(0.037) NULL INTS2 57508 genome.wustl.edu 37 17 59981936 59981936 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020748.2 -1 validated p.E406K 1.000 84 0% 78 26.9% 1 0% probably_damaging(0.96) deleterious(0.03) deleterious(0.768) NULL INTS2 57508 genome.wustl.edu 37 17 60003813 60003813 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020748.2 -1 validated p.R73C 1.000 138 0% 130 30% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL MED13 9969 genome.wustl.edu 37 17 60088343 60088343 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005121.2 -1 reviewed p.R512Q 1.000 135 0% 139 28.1% 4 0% probably_damaging(0.986) tolerated(0.42) neutral(0.449) NULL MED13 9969 genome.wustl.edu 37 17 60140635 60140635 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005121.2 -1 reviewed p.K32Q 1.000 104 0% 99 37.4% 0 - benign(0.031) tolerated(0.13) neutral(0.254) NULL ENSG00000188755 0 genome.wustl.edu 37 17 60351202 60351202 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000339120 -1 known p.P38H 0.072 156 0% 84 26.2% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL EFCAB3 146779 genome.wustl.edu 37 17 60460344 60460344 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144933.1 +1 validated p.A54T 0.990 98 0% 86 27.9% 0 - possibly_damaging(0.586) deleterious(0) deleterious(0.647) superfamily_EF-hand EFCAB3 146779 genome.wustl.edu 37 17 60484019 60484019 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144933.1 +1 validated p.L275I 1.000 125 0% 145 33.8% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TLK2 11011 genome.wustl.edu 37 17 60685476 60685476 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006852.3 +1 validated p.F682 0.998 99 0% 116 31.9% 27 44.4% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MARCH10 162333 genome.wustl.edu 37 17 60779070 60779070 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100875.1 -1 validated p.V807 0.012 147 0% 109 29.4% 0 - - - - NULL MARCH10 162333 genome.wustl.edu 37 17 60821759 60821759 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100875.1 -1 validated p.K171N 0.014 172 0% 142 27.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TANC2 26115 genome.wustl.edu 37 17 61457183 61457183 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025185.3 +1 validated p.F822C 1.000 360 0% 279 29.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TANC2 26115 genome.wustl.edu 37 17 61498226 61498226 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025185.3 +1 validated p.I1628T 1.000 158 0% 174 33.9% 0 - benign(0.032) deleterious(0) neutral(0.446) NULL ACE 1636 genome.wustl.edu 37 17 61560856 61560856 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000789.2 +1 reviewed p.R508Q 0.845 56 0% 47 27.7% 5 40% benign(0.234) tolerated(0.58) neutral(0.029) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" MAP3K3 4215 genome.wustl.edu 37 17 61769157 61769157 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203351.1 +1 reviewed p.T501M 1.000 95 0% 69 31.9% 8 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PSMC5 5705 genome.wustl.edu 37 17 61907805 61907805 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002805.4 +1 reviewed p.E166K 1.000 109 0% 95 28.4% 226 42.9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases CD79B 974 genome.wustl.edu 37 17 62007698 62007698 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039933.1 -1 reviewed p.K57Q 0.898 27 0% 47 40.4% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CEP95 90799 genome.wustl.edu 37 17 62533231 62533231 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138363.1 +1 provisional e19+1 1.000 88 0% 87 26.4% 4 100% - - - - SMURF2 64750 genome.wustl.edu 37 17 62594511 62594511 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022739.3 -1 validated p.Q63 1.000 305 0% 238 30.7% 0 - - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB LOC100289243 100289243 genome.wustl.edu 37 17 62747193 62747193 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343577.1 +1 model p.K222T 1.000 107 0% 136 30.9% 1 100% - - - HMMPfam_Sec63,HMMSmart_SM00611 ENSG00000214176 0 genome.wustl.edu 37 17 62818111 62818111 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000397718 -1 known p.E166K 1.000 71 0% 70 24.3% 4 100% benign(0.35) tolerated(0.21) neutral(0.155) HMMPfam_RUN LRRC37A3 374819 genome.wustl.edu 37 17 62892245 62892245 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199340.2 -1 provisional p.P377 0.000 767 0.1% 773 15.5% 0 - - - - NULL GNA13 10672 genome.wustl.edu 37 17 63010731 63010731 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006572.4 -1 validated p.R260* 1.000 214 0% 220 29.5% 3 33.3% - - - HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases GNA13 10672 genome.wustl.edu 37 17 63049823 63049823 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006572.4 -1 validated p.R103* 0.904 264 0% 237 33.3% 9 0% - - - HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases AXIN2 8313 genome.wustl.edu 37 17 63533916 63533916 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004655.3 -1 reviewed p.S413L 0.002 8 0.000 5 0.800 13 53.8% benign(0.002) tolerated(0.23) neutral(0.042) NULL CEP112 201134 genome.wustl.edu 37 17 63848110 63848110 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145036.3 -1 validated p.E736* 1.000 109 0% 91 35.2% 2 0% - - - NULL PRKCA 5578 genome.wustl.edu 37 17 64800106 64800106 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002737.2 +1 reviewed p.S657L 1.000 41 0% 53 24.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00133,HMMPfam_Pkinase_C CACNG4 27092 genome.wustl.edu 37 17 65026678 65026678 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014405.2 +1 reviewed p.Y181C 1.000 582 0% 515 33% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMP22_Claudin HELZ 9931 genome.wustl.edu 37 17 65105444 65105444 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014877.3 -1 validated p.G1426E 0.993 149 0% 139 38.8% 13 61.5% unknown(0) deleterious(0) - NULL HELZ 9931 genome.wustl.edu 37 17 65163814 65163814 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014877.3 -1 validated p.R510H 1.000 307 0% 214 31.3% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HELZ 9931 genome.wustl.edu 37 17 65186388 65186388 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014877.3 -1 validated p.R214I 1.000 116 0% 86 32.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PSMD12 5718 genome.wustl.edu 37 17 65344684 65344684 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002816.3 -1 reviewed p.S164 0.996 125 0% 100 30% 75 56% - - - NULL BPTF 2186 genome.wustl.edu 37 17 65941546 65941546 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182641.3 +1 reviewed p.S2241N 1.000 143 0% 151 27.8% 5 0% benign(0.195) tolerated(0.38) neutral(0.036) NULL WIPI1 55062 genome.wustl.edu 37 17 66432541 66432541 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017983.5 -1 validated p.L170 1.000 107 0% 103 39.8% 5 0% - - - superfamily_WD40 repeat-like FAM20A 54757 genome.wustl.edu 37 17 66533822 66533822 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017565.3 -1 validated p.S474 0.910 35 0% 25 40% 6 0% - - - HMMPfam_DUF1193 ABCA8 10351 genome.wustl.edu 37 17 66938093 66938093 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007168.2 -1 reviewed p.R28I 0.996 201 0% 208 27.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ABCA9 10350 genome.wustl.edu 37 17 67016553 67016553 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080283.3 -1 reviewed p.K859T 0.002 219 0% 168 31.5% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL ABCA9 10350 genome.wustl.edu 37 17 67028402 67028402 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080283.3 -1 reviewed p.R431Q 0.000 82 0% 82 24.4% 0 - benign(0.009) tolerated(0.34) neutral(0.024) NULL ABCA6 23460 genome.wustl.edu 37 17 67084337 67084337 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080284.2 -1 reviewed p.K1223N 0.893 177 0% 121 26.4% 0 - possibly_damaging(0.522) tolerated(0.5) neutral(0.186) NULL ABCA10 10349 genome.wustl.edu 37 17 67150093 67150093 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080282.3 -1 reviewed p.F1282L 0.065 214 0.5% 180 37.2% 0 - possibly_damaging(0.947) tolerated(0.16) neutral(0.450) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA10 10349 genome.wustl.edu 37 17 67170764 67170764 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080282.3 -1 reviewed p.E1011G 0.000 580 0% 459 32.9% 0 - benign(0) tolerated(0.39) neutral(0.016) NULL ABCA10 10349 genome.wustl.edu 37 17 67170765 67170765 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080282.3 -1 reviewed p.E1011K 0.000 579 0% 456 33.1% 0 - benign(0.045) tolerated(0.91) neutral(0.003) NULL ABCA10 10349 genome.wustl.edu 37 17 67183865 67183865 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080282.3 -1 reviewed p.R763C 0.197 227 0% 178 29.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABCA10 10349 genome.wustl.edu 37 17 67186509 67186509 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080282.3 -1 reviewed p.I707 0.023 163 0% 138 36.2% 0 - - - - NULL ABCA10 10349 genome.wustl.edu 37 17 67189746 67189746 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080282.3 -1 reviewed p.R510I 0.950 93 0% 68 29.4% 0 - benign(0.003) deleterious(0.03) neutral(0.364) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA5 23461 genome.wustl.edu 37 17 67249939 67249939 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018672.3 -1 reviewed p.R1439Q 1.000 108 0% 79 26.6% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA5 23461 genome.wustl.edu 37 17 67293434 67293434 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018672.3 -1 reviewed p.R445I 1.000 225 0% 168 32.7% 0 - benign(0.253) tolerated(0.05) neutral(0.371) NULL LOC124685 124685 genome.wustl.edu 37 17 69617491 69617491 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_040247.2 +1 model NULL 1.000 90 0% 78 30.8% 0 - - - - - CDC42EP4 23580 genome.wustl.edu 37 17 71281904 71281904 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012121.4 -1 reviewed p.A246T 0.000 39 0% 40 30% 39 33.3% benign(0.017) tolerated(0.53) neutral(0.008) NULL SDK2 54549 genome.wustl.edu 37 17 71380057 71380057 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144952.1 -1 provisional p.R1555* 0.381 70 0% 76 23.7% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SDK2 54549 genome.wustl.edu 37 17 71391349 71391349 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144952.1 -1 provisional p.N1179 0.899 16 0% 23 21.7% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SDK2 54549 genome.wustl.edu 37 17 71391487 71391487 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144952.1 -1 provisional p.G1133 1.000 43 0% 40 27.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TTYH2 94015 genome.wustl.edu 37 17 72218625 72218625 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032646.5 +1 reviewed p.S44L 1.000 15 0% 23 34.8% 0 - unknown(0) deleterious(0) - HMMPfam_Tweety DNAI2 64446 genome.wustl.edu 37 17 72297260 72297260 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023036.4 +1 reviewed p.L314 0.007 155 0.6% 121 27.3% 0 - - - - superfamily_WD40 repeat-like DNAI2 64446 genome.wustl.edu 37 17 72308306 72308306 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023036.4 +1 reviewed p.F553 0.016 13 0% 15 40% 0 - - - - superfamily_WD40 repeat-like GPR142 350383 genome.wustl.edu 37 17 72368624 72368624 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181790.1 +1 provisional p.V425A 1.000 65 0% 44 22.7% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_SSF81321 CD300LD 100131439 genome.wustl.edu 37 17 72584683 72584683 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001115152.1 -1 provisional p.L116I 0.005 228 0% 275 31.6% 0 - possibly_damaging(0.592) tolerated(0.07) deleterious(0.523) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CD300LD 100131439 genome.wustl.edu 37 17 72584974 72584974 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001115152.1 -1 provisional p.A19T 0.000 197 0% 213 25.4% 0 - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_V-set CD300E 342510 genome.wustl.edu 37 17 72613293 72613293 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181449.1 -1 provisional p.D118N 0.005 444 0% 467 26.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409 CD300LF 146722 genome.wustl.edu 37 17 72691278 72691278 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139018.3 -1 validated p.G277D 0.000 41 0% 58 31% 0 - possibly_damaging(0.824) tolerated(0.95) neutral(0.312) NULL GRIN2C 2905 genome.wustl.edu 37 17 72844040 72844040 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000835.3 -1 reviewed p.F574 0.997 34 0% 22 31.8% 0 - - - - HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II FDXR 2232 genome.wustl.edu 37 17 72860104 72860104 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004110.3 -1 reviewed p.K369T 1.000 57 0% 58 31% 91 45% benign(0.041) deleterious(0) neutral(0.447) HMMPfam_Pyr_redox_2,superfamily_SSF51971 OTOP3 347741 genome.wustl.edu 37 17 72942967 72942967 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178233.1 +1 provisional p.F339 0.706 54 0% 38 36.8% 0 - - - - NULL GGA3 23163 genome.wustl.edu 37 17 73234827 73234827 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138619.2 -1 reviewed p.L656S 1.000 79 0% 34 41.2% 17 23.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,superfamily_Clathrin adaptor appendage domain RECQL5 9400 genome.wustl.edu 37 17 73627235 73627235 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004259.5 -1 validated p.R515C 1.000 61 0% 44 25% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBE2O 63893 genome.wustl.edu 37 17 74392498 74392498 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022066.3 -1 validated p.P840 0.995 163 0% 130 36.2% 6 16.6% - - - NULL TNRC6C 57690 genome.wustl.edu 37 17 76046644 76046644 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142640.1 +1 validated p.T501A 1.000 203 0% 161 34.2% 0 - probably_damaging(0.977) tolerated(0.06) deleterious(0.742) NULL TNRC6C 57690 genome.wustl.edu 37 17 76047222 76047222 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142640.1 +1 validated p.I693 0.098 25 0% 33 15.2% 1 0% - - - NULL DNAH17 8632 genome.wustl.edu 37 17 76497854 76497854 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000389840 -1 known p.R1753 0.988 66 0% 50 24% 0 - - - - NULL CYTH1 9267 genome.wustl.edu 37 17 76705766 76705766 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004762.2 -1 reviewed p.R24Q 1.000 149 0% 135 26.7% 2 50% benign(0.29) deleterious(0.05) neutral(0.435) NULL USP36 57602 genome.wustl.edu 37 17 76794618 76794618 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025090.3 -1 validated p.K1086Q 0.998 243 0% 231 26.4% 13 15.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL TIMP2 7077 genome.wustl.edu 37 17 76851766 76851766 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003255.4 -1 reviewed p.D216N 1.000 43 0% 37 21.6% 135 12.5% probably_damaging(0.955) tolerated(0.38) neutral(0.416) NULL TIMP2 7077 genome.wustl.edu 37 17 76851839 76851839 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003255.4 -1 reviewed p.F191 0.991 55 0% 58 31% 131 12.2% - - - HMMPfam_TIMP,HMMSmart_NTR,superfamily_TIMP_like CANT1 124583 genome.wustl.edu 37 17 76991254 76991254 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138793.3 -1 reviewed p.G227 0.652 30 0% 31 19.4% 28 46.4% - - - HMMPfam_Apyrase,superfamily_Apyrase SLC26A11 284129 genome.wustl.edu 37 17 78210729 78210729 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173626.3 +1 reviewed p.R247C 1.000 127 0% 118 38.1% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfate_transp RNF213 57674 genome.wustl.edu 37 17 78317012 78317012 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000508628 +1 known p.R2024* 0.981 32 0% 27 55.6% 0 - - - - NULL ENSG00000237199 0 genome.wustl.edu 37 17 78326559 78326559 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000437954 -1 known p.H154R 0.000 22 0% 26 26.9% 0 - - - - NULL CCDC57 284001 genome.wustl.edu 37 17 80153195 80153195 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198082.2 -1 validated p.E188K 0.024 14 0% 22 22.7% 1 100% possibly_damaging(0.923) deleterious(0.03) deleterious(0.737) NULL C17orf101 79701 genome.wustl.edu 37 17 80373404 80373404 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175902.4 -1 validated p.L58 0.000 51 0% 42 47.6% 24 37.5% - - - NULL TBCD 6904 genome.wustl.edu 37 17 80878488 80878488 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005993.4 +1 reviewed p.V699I 0.000 8 0.000 13 0.308 39 51.2% benign(0.002) tolerated(0.44) neutral(0.013) superfamily_ARM repeat ENSG00000173213 0 genome.wustl.edu 37 18 47680 47680 + Missense_Mutation SNP C C T rs191210390 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000308911 -1 known p.V349I 1.000 215 0% 137 31.4% 0 - benign(0.001) tolerated(0.1) neutral(0.286) superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C COLEC12 81035 genome.wustl.edu 37 18 331708 331708 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130386.2 -1 validated p.N675H 0.985 118 0% 70 30% 5 0% possibly_damaging(0.878) - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CETN1 1068 genome.wustl.edu 37 18 580592 580592 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004066.1 +1 reviewed p.F62V 1.000 38 0% 39 28.2% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) superfamily_EF-hand CETN1 1068 genome.wustl.edu 37 18 580773 580773 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004066.1 +1 reviewed p.S122L 0.997 115 0% 115 37.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand ENOSF1 55556 genome.wustl.edu 37 18 683362 683362 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_202758.2 -1 validated p.R275C 1.000 93 0% 113 32.7% 24 41.6% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_MR_MLE,PatternScan_MR_MLE_2,superfamily_SSF51604 ADCYAP1 116 genome.wustl.edu 37 18 909539 909539 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099733.1 +1 reviewed p.R145Q 1.000 236 0% 136 23.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hormone_2,HMMSmart_GLUCA,PatternScan_GLUCAGON ADCYAP1 116 genome.wustl.edu 37 18 909620 909620 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099733.1 +1 reviewed p.R172Q 1.000 238 0% 114 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL METTL4 64863 genome.wustl.edu 37 18 2563825 2563825 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022840.3 -1 validated p.E144K 1.000 169 0% 140 37.1% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NDC80 10403 genome.wustl.edu 37 18 2587861 2587861 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006101.2 +1 validated p.E234 0.357 98 0% 82 30.5% 16 43.7% - - - NULL SMCHD1 23347 genome.wustl.edu 37 18 2694562 2694562 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015295.2 +1 validated p.R304I 1.000 37 0% 47 31.9% 1 100% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase SMCHD1 23347 genome.wustl.edu 37 18 2718183 2718183 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015295.2 +1 validated p.S763L 1.000 179 0% 137 10.9% 3 33.3% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL EMILIN2 84034 genome.wustl.edu 37 18 2891355 2891355 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032048.2 +1 validated p.K410N 0.002 98 0% 92 26.1% 4 0% benign(0.039) tolerated(0.11) neutral(0.274) NULL EMILIN2 84034 genome.wustl.edu 37 18 2913152 2913152 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032048.2 +1 validated p.S971L 1.000 49 0% 42 28.6% 6 0% benign(0.32) deleterious(0) deleterious(0.544) superfamily_TNF_like LPIN2 9663 genome.wustl.edu 37 18 2927785 2927785 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014646.2 -1 reviewed p.D549Y 1.000 137 0% 108 29.6% 3 66.6% possibly_damaging(0.921) deleterious(0) deleterious(0.816) NULL ENSG00000252258 0 genome.wustl.edu 37 18 3025544 3025544 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000516449 -1 novel NULL 0.000 83 0% 97 29.9% 0 - - - - - MYOM1 8736 genome.wustl.edu 37 18 3112406 3112406 + Missense_Mutation SNP C C T rs186972208 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003803.3 -1 reviewed p.R1103Q 0.745 55 0% 48 27.1% 0 - benign(0.001) tolerated(0.67) neutral(0.003) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MYOM1 8736 genome.wustl.edu 37 18 3189054 3189054 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003803.3 -1 reviewed p.E155K 0.997 143 0% 117 35.9% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ZFP161 7541 genome.wustl.edu 37 18 5292107 5292107 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143823.1 -1 validated p.E34* 1.000 124 0% 64 23.4% 3 0% - - - superfamily_BTB/POZ_fold,HMMPfam_BTB EPB41L3 23136 genome.wustl.edu 37 18 5428394 5428394 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012307.2 -1 provisional p.R328Q 1.000 332 0% 244 26.6% 3 0% probably_damaging(0.977) deleterious(0.05) deleterious(0.764) HMMPfam_FERM_C,superfamily_PH domain-like L3MBTL4 91133 genome.wustl.edu 37 18 6263973 6263973 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173464.3 -1 validated p.V64 0.085 211 0% 158 30.4% 0 - - - - HMMSmart_MBT,superfamily_SSF63748 ARHGAP28 79822 genome.wustl.edu 37 18 6837267 6837267 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000400091 +1 known p.D133Y 1.000 41 0% 55 38.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LAMA1 284217 genome.wustl.edu 37 18 6985300 6985300 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005559.2 -1 validated p.D1866N 0.230 155 0% 155 19.4% 0 - possibly_damaging(0.639) deleterious(0.03) deleterious(0.588) superfamily_Concanavalin A-like lectins/glucanases PTPRM 5797 genome.wustl.edu 37 18 8069787 8069787 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105244.1 +1 reviewed p.S412 0.992 192 0% 136 11% 3 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRM 5797 genome.wustl.edu 37 18 8085711 8085711 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105244.1 +1 reviewed p.L532V 1.000 106 0% 94 27.7% 3 0% benign(0.005) tolerated(0.89) - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SOGA2 23255 genome.wustl.edu 37 18 8783588 8783588 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015210.3 +1 predicted p.R160C 1.000 16 0% 21 23.8% 1 100% possibly_damaging(0.439) tolerated(0.14) neutral(0.392) NULL SOGA2 23255 genome.wustl.edu 37 18 8812994 8812994 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015210.3 +1 predicted p.E874D 0.993 86 0% 75 29.3% 0 - possibly_damaging(0.512) tolerated(0.3) neutral(0.200) NULL SOGA2 23255 genome.wustl.edu 37 18 8824824 8824824 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015210.3 +1 predicted p.L1106I 1.000 57 0% 47 34% 1 0% probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL ANKRD12 23253 genome.wustl.edu 37 18 9195595 9195595 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015208.3 +1 validated p.R45Q 1.000 92 0% 84 31% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TWSG1 57045 genome.wustl.edu 37 18 9396408 9396408 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020648.5 +1 validated p.I118 0.978 143 0% 144 33.3% 50 40% - - - HMMPfam_Tsg PPP4R1 9989 genome.wustl.edu 37 18 9550053 9550053 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042388.1 -1 validated p.C848 1.000 107 0% 110 39.1% 39 58.9% - - - superfamily_ARM repeat TXNDC2 84203 genome.wustl.edu 37 18 9887209 9887209 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098529.1 +1 validated p.E245* 0.000 597 0% 572 31.1% 0 - - - - NULL APCDD1 147495 genome.wustl.edu 37 18 10485597 10485597 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153000.4 +1 validated p.E305K 1.000 62 0% 36 30.6% 59 1.6% probably_damaging(0.999) tolerated(0.9) deleterious(0.490) NULL GNAL 2774 genome.wustl.edu 37 18 11753678 11753678 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182978.2 +1 validated p.I167 0.998 132 0% 72 33.3% 0 - - - - HMMPfam_G-alpha,superfamily_Transducn_insert,superfamily_SSF52540 CIDEA 1149 genome.wustl.edu 37 18 12274154 12274154 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198289.2 +1 reviewed p.F165 0.881 82 0% 96 22.9% 0 - - - - NULL LOC100289263 100289263 genome.wustl.edu 37 18 12325598 12325598 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002344141.1 -1 model p.E38K 0.770 51 0% 46 32.6% 107 41.1% - - - NULL AFG3L2 10939 genome.wustl.edu 37 18 12351390 12351390 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006796.1 -1 reviewed p.V447 0.029 92 0% 98 39.8% 39 38.4% - - - HMMSmart_AAA,HMMPfam_AAA,PatternScan_AAA,superfamily_SSF52540 AFG3L2 10939 genome.wustl.edu 37 18 12353104 12353104 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006796.1 -1 reviewed p.I406 1.000 173 0.6% 236 29.2% 51 45% - - - HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 AFG3L2 10939 genome.wustl.edu 37 18 12367098 12367098 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006796.1 -1 reviewed p.D140N 1.000 92 0% 114 33.3% 26 34.6% benign(0.007) tolerated(0.29) neutral(0.029) NULL SLMO1 10650 genome.wustl.edu 37 18 12427319 12427319 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142405.1 +1 validated p.K154N 0.990 147 0% 155 34.8% 2 50% benign(0) tolerated(0.51) neutral(0.009) HMMPfam_PRELI PSMG2 56984 genome.wustl.edu 37 18 12706652 12706652 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020232.3 +1 provisional p.P54L 1.000 227 0% 250 30.8% 91 31.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCCA3 CEP192 55125 genome.wustl.edu 37 18 13049191 13049191 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032142.3 +1 validated p.S205A 0.002 166 0% 145 31.7% 0 - benign(0.396) deleterious(0) deleterious(0.572) NULL CEP192 55125 genome.wustl.edu 37 18 13068895 13068895 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032142.3 +1 validated p.E1027K 1.000 240 0% 173 30.6% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM210A 125228 genome.wustl.edu 37 18 13681703 13681703 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098801.1 -1 validated p.R125Q 1.000 290 0% 283 31.8% 2 0% probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_DUF1279 RNMT 8731 genome.wustl.edu 37 18 13731732 13731732 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003799.1 +1 provisional p.S72R 0.098 115 0% 138 19.6% 6 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LOC646359 646359 genome.wustl.edu 37 18 14378217 14378217 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_929288.3 -1 model p.V182 0.308 97 0% 96 20.8% 0 - - - - HMMPfam_TRF,superfamily_Telomeric repeat binding factor (TRF) dimerisation domain POTEC 388468 genome.wustl.edu 37 18 14542879 14542879 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001137671.1 -1 validated p.S89 0.005 198 0% 201 23.4% 0 - - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14852060 14852060 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145029.1 +1 validated p.L1254I 0.992 51 0% 33 21.2% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL ROCK1 6093 genome.wustl.edu 37 18 18572895 18572895 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005406.2 -1 reviewed p.R630Q 1.000 205 0% 146 25.3% 15 26.6% possibly_damaging(0.581) tolerated(0.21) neutral(0.244) NULL ESCO1 114799 genome.wustl.edu 37 18 19153436 19153436 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052911.2 -1 validated p.E457* 0.976 162 0% 199 30.7% 2 50% - - - NULL SNRPD1 6632 genome.wustl.edu 37 18 19203799 19203799 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006938.2 +1 reviewed p.R61Q 1.000 200 0% 193 26.9% 225 36.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_LSM,HMMSmart_SM00651,superfamily_Sm-like ribonucleoproteins CTAGE1 64693 genome.wustl.edu 37 18 19995786 19995786 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172241.2 -1 validated p.P663 0.253 880 0.1% 768 28.1% 0 - - - - NULL RBBP8 5932 genome.wustl.edu 37 18 20602122 20602122 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002894.2 +1 reviewed p.E829* 1.000 190 0% 110 32.7% 32 25% - - - HMMPfam_SAE2 RBBP8 5932 genome.wustl.edu 37 18 20606175 20606175 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002894.2 +1 reviewed p.S889Y 1.000 44 0% 62 29% 41 73.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CABLES1 91768 genome.wustl.edu 37 18 20793964 20793964 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100619.2 +1 validated p.R345I 1.000 261 0% 222 33.3% 4 100% probably_damaging(0.996) tolerated(0.23) deleterious(0.503) NULL CABLES1 91768 genome.wustl.edu 37 18 20817148 20817148 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100619.2 +1 validated p.L462S 1.000 94 2.1% 96 26% 17 35.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CABLES1 91768 genome.wustl.edu 37 18 20837268 20837268 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100619.2 +1 validated p.F613 1.000 107 0% 93 29% 9 66.6% - - - superfamily_Cyclin-like RIOK3 8780 genome.wustl.edu 37 18 21044530 21044530 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003831.3 +1 reviewed p.D161Y 1.000 198 0% 145 33.8% 14 42.8% benign(0.003) tolerated(0.11) neutral(0.272) NULL NPC1 4864 genome.wustl.edu 37 18 21121069 21121069 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000271.4 -1 reviewed p.S826Y 0.726 175 0% 156 28.8% 18 11.1% benign(0.093) deleterious(0.01) neutral(0.413) HMMPfam_Patched ANKRD29 147463 genome.wustl.edu 37 18 21229153 21229153 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173505.2 -1 validated p.E9A 1.000 86 0% 60 20% 0 - probably_damaging(0.995) tolerated(0.12) deleterious(0.718) NULL LAMA3 3909 genome.wustl.edu 37 18 21399891 21399891 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198129.1 +1 reviewed p.R745Q 1.000 187 0% 142 33.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LAMA3 3909 genome.wustl.edu 37 18 21494398 21494398 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198129.1 +1 reviewed p.A2452T 1.000 50 0% 72 20.8% 62 40.3% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases TTC39C 125488 genome.wustl.edu 37 18 21660643 21660643 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001135993.1 +1 validated p.K185N 1.000 128 0% 134 12.7% 4 0% benign(0.13) tolerated(0.18) neutral(0.067) HMMPfam_Deme6 CABYR 26256 genome.wustl.edu 37 18 21735967 21735967 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012189.2 +1 reviewed p.V168I 1.000 198 0.5% 196 28.1% 2 100% possibly_damaging(0.93) deleterious(0) deleterious(0.821) NULL HRH4 59340 genome.wustl.edu 37 18 22048893 22048893 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021624.3 +1 reviewed p.R112Q 1.000 101 0% 114 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like HRH4 59340 genome.wustl.edu 37 18 22056924 22056924 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021624.3 +1 reviewed p.A191T 0.466 353 0% 353 32.9% 0 - benign(0.023) tolerated(0.92) neutral(0.001) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF521 25925 genome.wustl.edu 37 18 22806254 22806254 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015461.2 -1 validated p.R543Q 0.997 209 0.5% 162 27.8% 2 50% benign(0.103) tolerated(0.15) neutral(0.249) NULL CDH2 1000 genome.wustl.edu 37 18 25565698 25565698 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001792.3 -1 reviewed p.T590M 0.998 147 0% 125 26.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH2 1000 genome.wustl.edu 37 18 25589704 25589704 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001792.3 -1 reviewed p.R227C 1.000 159 0% 146 36.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH2 1000 genome.wustl.edu 37 18 25616465 25616465 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000399380 -1 known p.K16N 0.354 255 0% 208 31.2% 0 - benign(0.006) tolerated(0.21) neutral(0.044) HMMPfam_Cadherin_pro,superfamily_Cadherin DSC3 1825 genome.wustl.edu 37 18 28598185 28598185 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001941.3 -1 reviewed p.E372G 0.874 138 0% 111 23.4% 0 - probably_damaging(0.971) deleterious(0.02) deleterious(0.796) HMMPfam_Cadherin,superfamily_Cadherin-like DSC3 1825 genome.wustl.edu 37 18 28605815 28605815 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001941.3 -1 reviewed p.E181* 1.000 145 0% 137 29.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC3 1825 genome.wustl.edu 37 18 28612212 28612212 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001941.3 -1 reviewed p.K34Q 0.100 235 0% 186 25.8% 0 - possibly_damaging(0.822) tolerated(0.07) deleterious(0.630) HMMPfam_Cadherin_pro,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28926072 28926072 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001942.2 +1 reviewed p.E671* 1.000 201 0% 208 24% 0 - - - - HMMPfam_Cadherin_C DSG1 1828 genome.wustl.edu 37 18 28934805 28934805 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001942.2 +1 reviewed p.E882 0.902 331 0% 281 30.2% 0 - - - - NULL DSG3 1830 genome.wustl.edu 37 18 29038448 29038448 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001944.2 +1 reviewed p.R86Q 0.001 240 0.4% 222 27.5% 0 - benign(0.031) tolerated(0.05) neutral(0.347) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DSG3 1830 genome.wustl.edu 37 18 29056028 29056028 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001944.2 +1 reviewed p.E935D 0.862 170 0% 157 28.7% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL DSG2 1829 genome.wustl.edu 37 18 29122789 29122789 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001943.3 +1 reviewed p.E770* 0.982 124 0% 111 32.4% 92 54.3% - - - NULL DSG2 1829 genome.wustl.edu 37 18 29125729 29125729 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001943.3 +1 reviewed p.D794Y 1.000 262 0% 274 29.6% 65 32.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MCART2 147407 genome.wustl.edu 37 18 29340011 29340011 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001034172.2 -1 validated p.T205M 0.002 239 0% 223 29.6% 1 0% possibly_damaging(0.506) tolerated(0.12) neutral(0.430) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr MCART2 147407 genome.wustl.edu 37 18 29340044 29340044 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001034172.2 -1 validated p.R194Q 0.995 207 0% 196 40.8% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr TRAPPC8 22878 genome.wustl.edu 37 18 29497601 29497601 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014939.3 -1 validated p.E128K 1.000 386 0% 245 29.4% 0 - possibly_damaging(0.947) deleterious(0.03) deleterious(0.755) NULL RNF125 54941 genome.wustl.edu 37 18 29617215 29617215 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017831.3 +1 reviewed p.A101T 0.451 252 0% 313 16.6% 0 - benign(0) tolerated(0.36) neutral(0.020) NULL RNF125 54941 genome.wustl.edu 37 18 29622192 29622192 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017831.3 +1 reviewed p.I123M 1.000 37 0% 31 41.9% 0 - probably_damaging(0.996) tolerated(0.21) deleterious(0.506) NULL MEP1B 4225 genome.wustl.edu 37 18 29770079 29770079 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005925.2 +1 validated p.L16F 0.041 53 0% 55 30.9% 0 - benign(0.167) tolerated(0.21) neutral(0.059) NULL MEP1B 4225 genome.wustl.edu 37 18 29782855 29782855 + Splice_Site SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005925.2 +1 validated e6-1 1.000 39 0% 35 37.1% 0 - - - - - MEP1B 4225 genome.wustl.edu 37 18 29790487 29790487 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005925.2 +1 validated p.D315N 0.008 119 0% 99 39.4% 0 - benign(0) tolerated(1) - HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1 FAM59A 64762 genome.wustl.edu 37 18 29847986 29847986 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022751.1 -1 provisional p.E826K 1.000 87 0% 66 10.6% 3 33.3% possibly_damaging(0.862) deleterious(0.03) deleterious(0.698) HMMPfam_SAM_1,superfamily_SAM_homology FAM59A 64762 genome.wustl.edu 37 18 29850225 29850225 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022751.1 -1 provisional p.S563Y 1.000 34 0% 30 26.7% 4 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL FAM59A 64762 genome.wustl.edu 37 18 29867558 29867558 + Silent SNP G G A rs184904701 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022751.1 -1 provisional p.F334 0.970 153 0% 150 29.3% 2 100% - - - NULL C18orf34 374864 genome.wustl.edu 37 18 30926334 30926334 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105528.1 -1 validated p.L167I 0.932 155 0% 107 23.4% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL C18orf34 374864 genome.wustl.edu 37 18 30977167 30977167 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105528.1 -1 validated p.T22A 0.000 106 0% 88 35.2% 0 - benign(0.181) deleterious(0) neutral(0.461) NULL ASXL3 80816 genome.wustl.edu 37 18 31319953 31319953 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030632.1 +1 provisional p.K862T 0.995 110 0% 87 36.8% 0 - benign(0.259) deleterious(0) deleterious(0.472) NULL ASXL3 80816 genome.wustl.edu 37 18 31325277 31325277 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030632.1 +1 provisional p.K1822T 1.000 237 0.4% 236 22.9% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL NOL4 8715 genome.wustl.edu 37 18 31523095 31523095 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003787.3 -1 validated p.I492 1.000 169 0% 149 26.8% 0 - - - - NULL NOL4 8715 genome.wustl.edu 37 18 31599559 31599559 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003787.3 -1 validated p.S260Y 1.000 110 0% 148 31.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DTNA 1837 genome.wustl.edu 37 18 32438275 32438275 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001390.4 +1 reviewed p.L493R 1.000 113 0% 79 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DTNA 1837 genome.wustl.edu 37 18 32455326 32455326 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001390.4 +1 reviewed p.G596* 1.000 77 0% 66 34.8% 0 - - - - NULL ZSCAN30 100101467 genome.wustl.edu 37 18 32833601 32833601 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001112734.2 -1 validated p.R433I 1.000 211 0% 218 32.6% 1 100% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN30 100101467 genome.wustl.edu 37 18 32844108 32844108 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001112734.2 -1 validated p.R70Q 0.410 103 0% 84 35.7% 2 100% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) HMMPfam_SCAN,HMMSmart_SM00431 SLC39A6 25800 genome.wustl.edu 37 18 33703614 33703614 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012319.3 -1 validated p.G328 0.996 666 0% 591 24.7% 38 39.4% - - - HMMPfam_Zip MOCOS 55034 genome.wustl.edu 37 18 33780267 33780267 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017947.2 +1 validated p.P307 0.000 64 0% 70 30% 0 - - - - HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases FHOD3 80206 genome.wustl.edu 37 18 34191951 34191951 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025135.2 +1 validated p.D284N 1.000 100 0% 88 36.4% 0 - possibly_damaging(0.879) deleterious(0) deleterious(0.787) NULL FHOD3 80206 genome.wustl.edu 37 18 34298241 34298241 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025135.2 +1 validated p.D819Y 1.000 197 0% 173 27.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KIAA1328 57536 genome.wustl.edu 37 18 34647291 34647291 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020776.1 +1 validated p.R339W 0.973 213 0% 194 34.5% 1 0% possibly_damaging(0.9) deleterious(0.03) deleterious(0.721) NULL CELF4 56853 genome.wustl.edu 37 18 34854356 34854356 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020180.3 -1 reviewed p.R240Q 1.000 45 0% 36 38.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SETBP1 26040 genome.wustl.edu 37 18 42530863 42530863 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015559.2 +1 validated p.E520* 0.972 402 0% 366 33.6% 0 - - - - NULL LOC100131669 100131669 genome.wustl.edu 37 18 42643084 42643084 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001715120.1 -1 model p.D99N 0.997 97 0% 74 37.8% 0 - - - - NULL SLC14A2 8170 genome.wustl.edu 37 18 43247924 43247924 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007163.3 +1 validated p.A615V 1.000 258 0% 228 32.9% 0 - possibly_damaging(0.896) deleterious(0) deleterious(0.798) HMMPfam_UT EPG5 57724 genome.wustl.edu 37 18 43479452 43479452 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020964.2 -1 validated p.R1576C 1.000 170 0% 163 22.7% 6 33.3% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL EPG5 57724 genome.wustl.edu 37 18 43523231 43523231 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020964.2 -1 validated p.I613M 1.000 384 0% 382 36.9% 0 - probably_damaging(0.955) tolerated(0.09) deleterious(0.695) NULL HAUS1 115106 genome.wustl.edu 37 18 43685319 43685319 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138443.3 +1 validated p.E64* 0.995 80 0% 86 32.6% 30 13.3% - - - NULL HAUS1 115106 genome.wustl.edu 37 18 43685368 43685368 + RNA SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_026978.1 +1 validated NULL 0.000 66 0% 64 29.7% 0 - - - - - HAUS1 115106 genome.wustl.edu 37 18 43702477 43702477 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138443.3 +1 validated p.K174T 1.000 168 0% 118 23.7% 39 5.1% possibly_damaging(0.889) tolerated(0.14) deleterious(0.599) NULL PIAS2 9063 genome.wustl.edu 37 18 44424037 44424037 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004671.2 -1 validated p.R341W 1.000 269 0% 198 27.8% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RING/U-box PIAS2 9063 genome.wustl.edu 37 18 44470803 44470803 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004671.2 -1 validated p.S80* 0.126 213 0% 229 13.5% 6 50% - - - NULL KATNAL2 83473 genome.wustl.edu 37 18 44584631 44584631 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031303.2 +1 validated p.L48I 1.000 146 0% 106 35.8% 0 - probably_damaging(0.992) tolerated(0.54) neutral(0.455) NULL KATNAL2 83473 genome.wustl.edu 37 18 44627364 44627364 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031303.2 +1 validated p.F463 0.947 276 0% 232 27.2% 2 50% - - - NULL ZBTB7C 201501 genome.wustl.edu 37 18 45567285 45567285 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039360.1 -1 validated p.A65V 0.757 31 0% 41 26.8% 0 - benign(0.058) tolerated(0.37) neutral(0.022) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB CTIF 9811 genome.wustl.edu 37 18 46284759 46284759 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142397.1 +1 validated p.R352* 1.000 361 0% 276 32.2% 4 0% - - - NULL DYM 54808 genome.wustl.edu 37 18 46906113 46906113 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017653.3 -1 reviewed p.R70Q 1.000 246 0% 228 28.1% 9 66.6% probably_damaging(0.997) tolerated(0.58) deleterious(0.471) HMMPfam_Dymeclin SMAD4 4089 genome.wustl.edu 37 18 48593532 48593532 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005359.5 +1 reviewed p.K428T 1.000 141 0% 124 29.8% 15 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MH2,HMMSmart_SM00524,superfamily_SMAD/FHA domain DCC 1630 genome.wustl.edu 37 18 50450145 50450145 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005215.3 +1 reviewed p.D256Y 1.000 118 0% 93 23.7% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DCC 1630 genome.wustl.edu 37 18 50734120 50734120 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005215.3 +1 reviewed p.F598L 0.999 139 0% 124 25% 0 - benign(0) tolerated(0.11) neutral(0.272) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TCF4 6925 genome.wustl.edu 37 18 52895478 52895478 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083962.1 -1 reviewed p.S665L 0.976 107 0% 89 28.1% 16 0% benign(0.121) tolerated(0.06) neutral(0.332) NULL TCF4 6925 genome.wustl.edu 37 18 52924580 52924580 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083962.1 -1 reviewed p.S371L 1.000 250 0% 247 27.5% 16 0% possibly_damaging(0.837) tolerated(0.84) neutral(0.320) NULL TCF4 6925 genome.wustl.edu 37 18 53017619 53017619 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083962.1 -1 reviewed p.R174* 1.000 151 0% 128 35.9% 7 0% - - - NULL TXNL1 9352 genome.wustl.edu 37 18 54281690 54281690 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004786.2 -1 validated p.R234C 1.000 71 0% 84 28.6% 309 43.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF1000 WDR7 23335 genome.wustl.edu 37 18 54606619 54606619 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015285.2 +1 reviewed p.I1353 1.000 151 0% 110 35.5% 5 20% - - - NULL ST8SIA3 51046 genome.wustl.edu 37 18 55024396 55024396 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015879.2 +1 validated p.F185 1.000 126 0% 121 35.5% 0 - - - - HMMPfam_Glyco_transf_29 MALT1 10892 genome.wustl.edu 37 18 56367802 56367802 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006785.2 +1 reviewed p.D210N 0.999 219 0% 255 26.7% 12 25% benign(0.002) tolerated(0.53) neutral(0.007) superfamily_Immunoglobulin ZNF532 55205 genome.wustl.edu 37 18 56620896 56620896 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018181.4 +1 validated p.K1005N 1.000 146 0% 174 27.6% 12 41.6% probably_damaging(0.96) tolerated(0.18) neutral(0.459) NULL RAX 30062 genome.wustl.edu 37 18 56939653 56939653 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013435.2 -1 reviewed p.P161 0.943 69 0% 36 30.6% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like CPLX4 339302 genome.wustl.edu 37 18 56964048 56964048 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181654.3 -1 reviewed p.S122Y 1.000 121 0% 141 31.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CDH20 28316 genome.wustl.edu 37 18 59157987 59157987 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031891.2 +1 reviewed p.F67L 1.000 383 0.3% 312 22.8% 0 - possibly_damaging(0.726) deleterious(0.02) deleterious(0.647) HMMPfam_Cadherin,superfamily_Cadherin CDH20 28316 genome.wustl.edu 37 18 59221637 59221637 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031891.2 +1 reviewed p.I705 0.925 32 0% 29 55.2% 0 - - - - HMMPfam_Cadherin_C PIGN 23556 genome.wustl.edu 37 18 59774081 59774081 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012327.5 -1 reviewed p.A570T 0.966 62 0% 51 17.6% 14 7.1% benign(0.002) tolerated(0.19) neutral(0.050) HMMPfam_PigN PIGN 23556 genome.wustl.edu 37 18 59821873 59821873 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012327.5 -1 reviewed p.D152Y 1.000 285 0% 243 27.2% 6 66.6% benign(0.154) deleterious(0.01) neutral(0.419) superfamily_Alkaline_phosphatase_core KIAA1468 57614 genome.wustl.edu 37 18 59941249 59941249 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020854.3 +1 validated p.D933Y 1.000 218 0% 191 27.7% 11 54.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat PHLPP1 23239 genome.wustl.edu 37 18 60506128 60506128 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194449.2 +1 validated p.R117* 1.000 244 0.4% 172 25% 2 0% - - - HMMPfam_PH,superfamily_L domain-like PHLPP1 23239 genome.wustl.edu 37 18 60563045 60563045 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194449.2 +1 validated p.L237I 1.000 565 0% 458 27.5% 2 0% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like SERPINB4 6318 genome.wustl.edu 37 18 61306534 61306534 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002974.2 -1 validated p.S218Y 0.000 205 0% 174 13.8% 0 - benign(0.002) tolerated(0.13) neutral(0.253) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB4 6318 genome.wustl.edu 37 18 61306941 61306941 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002974.2 -1 validated p.I180T 0.998 310 0% 239 28% 0 - possibly_damaging(0.783) deleterious(0.02) deleterious(0.676) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB11 89778 genome.wustl.edu 37 18 61390517 61390517 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080475.2 +1 validated p.A355T 0.000 301 0% 303 32.7% 0 - benign(0) tolerated(0.86) neutral(0.001) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins CDH19 28513 genome.wustl.edu 37 18 64172503 64172503 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021153.2 -1 reviewed p.R622I 0.287 242 0% 198 33.3% 0 - possibly_damaging(0.819) deleterious(0) deleterious(0.754) HMMPfam_Cadherin_C CDH19 28513 genome.wustl.edu 37 18 64202327 64202327 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021153.2 -1 reviewed p.S411N 0.986 82 0% 59 27.1% 0 - possibly_damaging(0.455) tolerated(0.37) neutral(0.168) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DSEL 92126 genome.wustl.edu 37 18 65178589 65178589 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032160.2 -1 validated p.K1096T 0.992 162 0% 125 27.2% 3 0% benign(0) tolerated(0.14) neutral(0.249) superfamily_P-loop containing nucleoside triphosphate hydrolases DSEL 92126 genome.wustl.edu 37 18 65178777 65178777 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032160.2 -1 validated p.S1033 0.001 201 0% 164 25.6% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DSEL 92126 genome.wustl.edu 37 18 65181252 65181252 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032160.2 -1 validated p.E208D 0.990 127 0% 112 29.5% 0 - benign(0.051) tolerated(0.31) neutral(0.030) NULL DSEL 92126 genome.wustl.edu 37 18 65181320 65181320 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032160.2 -1 validated p.G186C 1.000 121 0% 108 25.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DSEL 92126 genome.wustl.edu 37 18 65181610 65181610 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032160.2 -1 validated p.S89Y 1.000 101 0% 97 30.9% 0 - possibly_damaging(0.887) deleterious(0.01) deleterious(0.752) NULL CD226 10666 genome.wustl.edu 37 18 67562970 67562970 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006566.2 -1 reviewed p.E232K 0.009 70 0% 58 37.9% 1 0% benign(0.01) tolerated(0.8) neutral(0.001) HMMPfam_V-set,superfamily_SSF48726 CBLN2 147381 genome.wustl.edu 37 18 70209181 70209181 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182511.3 -1 validated p.P72L 0.998 10 0% 14 50% 0 - possibly_damaging(0.712) deleterious(0.01) deleterious(0.663) NULL NETO1 81832 genome.wustl.edu 37 18 70451127 70451127 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138966.2 -1 reviewed p.F218L 1.000 206 0% 179 27.4% 0 - benign(0.14) deleterious(0.02) neutral(0.395) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain FBXO15 201456 genome.wustl.edu 37 18 71740862 71740862 + Missense_Mutation SNP C C T rs191921902 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142958.1 -1 reviewed p.S456N 0.003 645 0.5% 725 36.7% 1 0% benign(0) tolerated(0.23) neutral(0.042) NULL ZNF407 55628 genome.wustl.edu 37 18 72347213 72347213 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017757.2 +1 reviewed p.R1413Q 0.142 104 0% 117 30.8% 2 50% probably_damaging(1) tolerated(0.05) deleterious(0.845) superfamily_C2H2 and C2HC zinc fingers C18orf62 284274 genome.wustl.edu 37 18 73130845 73130845 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037331.2 -1 provisional p.F52L 0.001 162 0% 122 22.1% 0 - benign(0.009) - - NULL ZNF516 9658 genome.wustl.edu 37 18 74083482 74083482 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000443185 -1 known p.E1102K 0.003 12 0% 15 33.3% 4 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF236 7776 genome.wustl.edu 37 18 74635035 74635035 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007345.3 +1 validated p.R1187Q 0.904 100 0% 120 32.5% 1 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ATP9B 374868 genome.wustl.edu 37 18 76870408 76870408 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198531.3 +1 validated p.R116H 1.000 214 0% 176 29.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP9B 374868 genome.wustl.edu 37 18 76966965 76966965 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198531.3 +1 validated p.S328N 1.000 41 0% 29 34.5% 1 0% probably_damaging(0.988) deleterious(0.04) deleterious(0.786) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A ATP9B 374868 genome.wustl.edu 37 18 77108158 77108158 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198531.3 +1 validated p.F955 0.966 107 0% 88 33% 15 26.6% - - - NULL NFATC1 4772 genome.wustl.edu 37 18 77170636 77170636 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172387.1 +1 reviewed p.E108K 1.000 25 0% 27 37% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PTBP1 5725 genome.wustl.edu 37 19 807901 807901 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002819.4 +1 reviewed p.F384 1.000 84 0% 70 41.4% 285 36.8% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 AZU1 566 genome.wustl.edu 37 19 830888 830888 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001700.3 +1 reviewed p.R181C 0.003 19 0% 18 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ARID3A 1820 genome.wustl.edu 37 19 964870 964870 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005224.2 +1 reviewed p.R330W 1.000 23 0% 21 38.1% 23 21.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ARID,HMMSmart_BRIGHT,superfamily_ARID POLR2E 5434 genome.wustl.edu 37 19 1090924 1090924 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002695.3 -1 reviewed p.N138D 1.000 12 0% 12 58.3% 294 43.8% possibly_damaging(0.924) tolerated(0.07) deleterious(0.692) HMMPfam_RNA_pol_Rpb5_C,superfamily_RNA_pol_Rpb5_N MUM1 84939 genome.wustl.edu 37 19 1360170 1360170 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032853.3 +1 validated p.E85* 0.997 81 0% 60 30% 3 66.6% - - - NULL DOT1L 84444 genome.wustl.edu 37 19 2180744 2180744 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032482.2 +1 validated p.I38 1.000 17 0% 23 30.4% 6 50% - - - superfamily_SSF53335 LMNB2 84823 genome.wustl.edu 37 19 2444468 2444468 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032737.2 -1 reviewed p.R92Q 0.991 13 0% 18 50% 18 33.3% possibly_damaging(0.732) deleterious(0.04) deleterious(0.617) HMMPfam_Filament ZNF555 148254 genome.wustl.edu 37 19 2853875 2853875 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152791.4 +1 validated p.F604L 0.003 131 0% 135 25.2% 1 100% benign(0) tolerated(0.29) neutral(0.029) NULL ZNF556 80032 genome.wustl.edu 37 19 2877963 2877963 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024967.1 +1 provisional p.T336M 0.863 55 0% 65 24.6% 0 - benign(0.349) tolerated(0.08) neutral(0.410) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF57 126295 genome.wustl.edu 37 19 2916112 2916112 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173480.2 +1 validated p.S56Y 0.142 165 0% 154 31.8% 6 83.3% possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMSmart_SM00349 ZNF57 126295 genome.wustl.edu 37 19 2917690 2917690 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173480.2 +1 validated p.T357 0.001 139 0% 133 23.3% 8 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF57 126295 genome.wustl.edu 37 19 2917857 2917857 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173480.2 +1 validated p.T413M 0.001 158 0.6% 180 26.1% 7 28.5% possibly_damaging(0.905) tolerated(0.1) deleterious(0.646) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF77 58492 genome.wustl.edu 37 19 2934669 2934669 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021217.2 -1 validated p.E152D 0.003 250 0% 230 28.7% 3 33.3% benign(0.008) tolerated(0.58) neutral(0.005) superfamily_SSF57667 TLE6 79816 genome.wustl.edu 37 19 2989551 2989551 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143986.1 +1 validated p.R338C 1.000 30 0% 42 45.2% 3 33.3% possibly_damaging(0.606) tolerated(0.06) deleterious(0.532) HMMSmart_SM00320,superfamily_WD40 repeat-like GNA15 2769 genome.wustl.edu 37 19 3155833 3155833 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002068.2 +1 validated p.V209 0.925 28 0% 31 29% 7 0% - - - HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases MATK 4145 genome.wustl.edu 37 19 3778366 3778366 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002378.3 -1 reviewed p.E448K 0.999 8 0.000 8 0.625 9 22.2% possibly_damaging(0.454) tolerated(0.2) neutral(0.198) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like MATK 4145 genome.wustl.edu 37 19 3779382 3779382 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002378.3 -1 reviewed p.F333C 1.000 16 0% 12 50% 4 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like MATK 4145 genome.wustl.edu 37 19 3789290 3789290 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002378.3 -1 reviewed p.R19H 0.001 52 0% 45 24.4% 0 - unknown(0) deleterious(0.01) - NULL EEF2 1938 genome.wustl.edu 37 19 3980633 3980633 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001961.3 -1 reviewed p.R409W 0.987 41 0% 35 22.9% 1302 45.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU_D2,superfamily_Translation proteins ANKRD24 170961 genome.wustl.edu 37 19 4210268 4210268 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133475.1 +1 provisional p.R320* 0.006 34 0% 19 47.4% 1 100% - - - NULL ANKRD24 170961 genome.wustl.edu 37 19 4216922 4216922 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133475.1 +1 provisional p.A589T 0.004 44 0% 41 34.1% 0 - probably_damaging(0.98) tolerated(0.16) deleterious(0.483) NULL SH3GL1 6455 genome.wustl.edu 37 19 4366974 4366974 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003025.2 -1 provisional p.V21 0.735 147 0% 93 18.3% 32 15.6% - - - HMMPfam_BAR,HMMSmart_SM00721 DPP9 91039 genome.wustl.edu 37 19 4702054 4702054 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139159.4 -1 reviewed p.R333W 1.000 52 0% 32 25% 20 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DPPIV_N,superfamily_SSF82171 SAFB2 9667 genome.wustl.edu 37 19 5590386 5590386 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014649.2 -1 validated p.P810S 0.159 18 0% 22 22.7% 14 28.5% unknown(0) tolerated(0.09) - superfamily_SSF54928 SAFB2 9667 genome.wustl.edu 37 19 5604658 5604658 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014649.2 -1 validated p.E499K 0.994 84 0% 78 26.9% 15 26.6% benign(0.176) tolerated(0.49) neutral(0.027) superfamily_SSF54928 SAFB 6294 genome.wustl.edu 37 19 5657299 5657299 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002967.2 +1 reviewed p.S601 0.001 55 0% 26 26.9% 73 20.5% - - - superfamily_SSF54928 LONP1 9361 genome.wustl.edu 37 19 5713162 5713162 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004793.2 -1 reviewed p.I207 0.992 38 0% 39 15.4% 64 29.6% - - - HMMPfam_LON,HMMSmart_LON ACSBG2 81616 genome.wustl.edu 37 19 6183087 6183087 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030924.3 +1 validated p.T376A 0.001 172 0% 167 32.9% 0 - benign(0.001) tolerated(0.87) neutral(0.001) HMMPfam_AMP-binding,superfamily_SSF56801 C3 718 genome.wustl.edu 37 19 6692943 6692943 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000064.2 -1 reviewed p.E1128* 1.000 112 0% 109 27.5% 30 6.6% - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp C3 718 genome.wustl.edu 37 19 6702214 6702214 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000064.2 -1 reviewed p.T788 0.005 116 0% 69 23.2% 15 46.6% - - - HMMPfam_A2M C3 718 genome.wustl.edu 37 19 6702535 6702535 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000064.2 -1 reviewed p.F767L 0.998 155 0% 123 32.5% 20 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C3 718 genome.wustl.edu 37 19 6711019 6711019 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000064.2 -1 reviewed p.K486 0.076 77 0% 86 22.1% 11 0% - - - HMMPfam_A2M_N_2 C3 718 genome.wustl.edu 37 19 6712412 6712412 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000064.2 -1 reviewed p.F375 0.597 47 0% 52 25% 14 64.2% - - - NULL GPR108 56927 genome.wustl.edu 37 19 6734315 6734315 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080452.1 -1 provisional p.V126 0.999 29 0% 32 31.2% 40 35% - - - NULL TRIP10 9322 genome.wustl.edu 37 19 6743845 6743845 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004240.2 +1 validated p.D214N 1.000 154 0% 149 28.2% 92 34.7% benign(0.012) tolerated(1) neutral(0.001) NULL VAV1 7409 genome.wustl.edu 37 19 6825377 6825377 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005428.2 +1 reviewed p.A263T 0.467 73 0% 48 18.8% 1 0% possibly_damaging(0.727) tolerated(0.44) neutral(0.277) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain EMR1 2015 genome.wustl.edu 37 19 6906538 6906538 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000450315 +1 known e9+2 0.206 209 0% 188 29.8% 0 - - - - - ZNF358 140467 genome.wustl.edu 37 19 7584331 7584331 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018083.4 +1 validated p.S68L 0.090 93 0% 113 31.9% 82 42.6% benign(0.141) deleterious(0) neutral(0.457) NULL CLEC4G 339390 genome.wustl.edu 37 19 7794755 7794755 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198492.3 -1 validated p.G232D 0.000 69 0% 69 29% 0 - possibly_damaging(0.877) tolerated(0.13) deleterious(0.594) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CLEC4M 10332 genome.wustl.edu 37 19 7831075 7831075 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014257.4 +1 reviewed p.D256N 0.004 207 0% 241 29% 0 - benign(0.087) tolerated(0.1) neutral(0.293) NULL CLEC4M 10332 genome.wustl.edu 37 19 7833812 7833812 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014257.4 +1 reviewed p.R380* 0.000 258 0% 240 29.2% 0 - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 FBN3 84467 genome.wustl.edu 37 19 8173113 8173113 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032447.3 -1 reviewed p.R1543I 1.000 180 0% 135 30.4% 0 - probably_damaging(0.956) tolerated(0.07) deleterious(0.719) HMMPfam_TB,superfamily_TB module/8-cys domain FBN3 84467 genome.wustl.edu 37 19 8174205 8174205 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032447.3 -1 reviewed p.A1508 0.049 206 0% 148 15.5% 0 - - - - HMMPfam_TB,superfamily_TB module/8-cys domain FBN3 84467 genome.wustl.edu 37 19 8174551 8174551 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032447.3 -1 reviewed p.D1474N 0.999 247 0% 181 29.3% 0 - possibly_damaging(0.919) tolerated(0.37) neutral(0.389) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin MYO1F 4542 genome.wustl.edu 37 19 8595422 8595422 + Silent SNP G G A rs192805660 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012335.3 -1 validated p.F693 1.000 227 0% 343 16.3% 2 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1F 4542 genome.wustl.edu 37 19 8612974 8612974 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012335.3 -1 validated p.F405 1.000 154 0.6% 156 22.4% 4 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1F 4542 genome.wustl.edu 37 19 8613157 8613157 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012335.3 -1 validated p.I382 0.918 82 0% 93 39.8% 6 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF558 148156 genome.wustl.edu 37 19 8922567 8922567 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144693.1 -1 provisional p.R200I 1.000 163 0% 131 29% 4 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MBD3L1 85509 genome.wustl.edu 37 19 8953665 8953665 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145208.2 +1 reviewed p.S104Y 0.000 250 0% 251 29.1% 0 - benign(0.001) tolerated(0.11) neutral(0.272) NULL MUC16 94025 genome.wustl.edu 37 19 9009648 9009648 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024690.2 -1 validated p.E13026D 0.312 1081 0% 1254 29.3% 9 66.6% probably_damaging(0.994) - - HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain MUC16 94025 genome.wustl.edu 37 19 9048972 9048972 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024690.2 -1 validated p.A10887T 0.000 860 0% 1000 28.7% 5 40% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9056732 9056732 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024690.2 -1 validated p.T10238 0.000 101 0% 96 32.3% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9058343 9058343 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024690.2 -1 validated p.E9701D 0.000 116 0.9% 151 31.8% 1 100% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9060111 9060111 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024690.2 -1 validated p.Q9112R 0.003 215 0% 312 31.7% 0 - unknown(0) - - NULL OR1M1 125963 genome.wustl.edu 37 19 9204625 9204625 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004456.1 +1 provisional p.K235N 0.029 238 0% 309 31.1% 0 - possibly_damaging(0.868) tolerated(0.11) deleterious(0.609) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR7G2 390882 genome.wustl.edu 37 19 9213399 9213399 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005193.1 -1 provisional p.I195S 0.078 183 0% 223 23.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF699 374879 genome.wustl.edu 37 19 9406273 9406273 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198535.1 -1 provisional p.R603* 0.000 198 0% 166 11.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF559 84527 genome.wustl.edu 37 19 9452763 9452763 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032497.1 +1 provisional p.P212 0.000 293 0% 247 29.1% 1 100% - - - superfamily_SSF57667 ZNF559 84527 genome.wustl.edu 37 19 9453161 9453161 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032497.1 +1 provisional p.R345Q 0.040 190 0% 170 26.5% 3 33.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF560 147741 genome.wustl.edu 37 19 9577814 9577814 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152476.2 -1 validated p.K603N 0.000 259 0% 222 35.1% 0 - possibly_damaging(0.598) tolerated(0.64) neutral(0.210) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF562 54811 genome.wustl.edu 37 19 9763950 9763950 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130031.1 -1 validated p.T319M 0.005 466 0% 427 30% 5 20% benign(0.082) tolerated(0.08) neutral(0.306) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FBXL12 54850 genome.wustl.edu 37 19 9922034 9922034 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017703.1 -1 provisional p.T173 0.000 20 0% 24 16.7% 17 23.5% - - - superfamily_RNI-like COL5A3 50509 genome.wustl.edu 37 19 10071203 10071203 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015719.3 -1 reviewed p.E1708K 0.881 200 0% 262 40.8% 46 8.6% unknown(0) deleterious(0.01) - HMMPfam_COLFI,HMMSmart_SM00038 RDH8 50700 genome.wustl.edu 37 19 10127868 10127868 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015725.2 +1 validated p.I80S 0.916 23 0% 42 28.6% 0 - possibly_damaging(0.935) deleterious(0) deleterious(0.825) HMMPfam_adh_short,superfamily_NAD(P)-bd DNMT1 1786 genome.wustl.edu 37 19 10291528 10291528 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130823.1 -1 reviewed p.E51K 1.000 60 0% 71 26.8% 5 20% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_DMAP_binding ICAM5 7087 genome.wustl.edu 37 19 10402899 10402899 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003259.3 +1 reviewed p.A288T 0.019 29 0% 18 50% 0 - benign(0.099) tolerated(0.09) neutral(0.304) superfamily_Immunoglobulin DNM2 1785 genome.wustl.edu 37 19 10904485 10904485 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005360.1 +1 reviewed p.R361Q 0.991 110 0% 101 29.7% 60 38.3% possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_Dynamin_M DNM2 1785 genome.wustl.edu 37 19 10912967 10912967 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005360.1 +1 reviewed p.L476F 1.000 63 0% 48 27.1% 95 42.1% possibly_damaging(0.694) deleterious(0.05) deleterious(0.595) HMMPfam_Dynamin_M RGL3 57139 genome.wustl.edu 37 19 11529942 11529942 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001035223.2 -1 validated p.A5T 0.018 13 0% 11 54.5% 15 46.6% possibly_damaging(0.918) deleterious(0) deleterious(0.813) NULL ZNF627 199692 genome.wustl.edu 37 19 11728046 11728046 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145295.3 +1 validated p.R243M 0.606 47 0% 62 48.4% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF823 55552 genome.wustl.edu 37 19 11836080 11836080 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080493.2 -1 validated p.G22 0.662 158 0% 112 27.7% 1 0% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF441 126068 genome.wustl.edu 37 19 11890938 11890938 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152355.2 +1 validated p.V100A 0.006 125 0% 120 15% 0 - benign(0.186) tolerated(0.47) neutral(0.029) NULL ZNF441 126068 genome.wustl.edu 37 19 11891121 11891121 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152355.2 +1 validated p.R161I 0.000 144 0% 141 32.6% 0 - possibly_damaging(0.949) tolerated(0.16) neutral(0.453) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF441 126068 genome.wustl.edu 37 19 11891152 11891152 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152355.2 +1 validated p.C171 0.009 144 0% 145 31% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF441 126068 genome.wustl.edu 37 19 11891955 11891955 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152355.2 +1 validated p.R439I 0.475 148 0% 175 32.6% 0 - possibly_damaging(0.905) tolerated(0.06) deleterious(0.682) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF491 126069 genome.wustl.edu 37 19 11916863 11916863 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152356.3 +1 validated p.P32H 0.154 83 0% 87 28.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZNF491 126069 genome.wustl.edu 37 19 11917976 11917976 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152356.3 +1 validated p.R403K 0.001 103 0% 95 27.4% 0 - probably_damaging(0.955) tolerated(0.14) deleterious(0.648) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF440 126070 genome.wustl.edu 37 19 11943170 11943170 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152357.2 +1 validated p.E393D 0.999 246 0% 274 26.3% 2 0% benign(0.013) tolerated(0.07) neutral(0.320) superfamily_SSF57667 ZNF440 126070 genome.wustl.edu 37 19 11943544 11943544 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152357.2 +1 validated p.S518N 0.000 254 0% 245 26.9% 6 83.3% possibly_damaging(0.767) deleterious(0.03) deleterious(0.649) NULL ZNF439 90594 genome.wustl.edu 37 19 11978669 11978669 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152262.2 +1 provisional p.R262I 0.814 284 0% 260 29.2% 0 - benign(0.085) tolerated(0.1) neutral(0.292) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF763 284390 genome.wustl.edu 37 19 12089398 12089398 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012753.1 +1 validated p.R223I 0.919 195 0% 242 30.2% 0 - possibly_damaging(0.893) tolerated(0.06) deleterious(0.674) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF136 7695 genome.wustl.edu 37 19 12298080 12298080 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003437.2 +1 validated p.R296Q 0.000 176 0% 171 11.7% 2 0% possibly_damaging(0.601) tolerated(0.58) neutral(0.213) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100287841 100287841 genome.wustl.edu 37 19 12358618 12358618 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343641.1 -1 model p.E366A 0.011 32 0% 29 37.9% 0 - possibly_damaging(0.857) tolerated(0.06) deleterious(0.653) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF44 51710 genome.wustl.edu 37 19 12383928 12383928 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016264.3 -1 validated p.R381Q 0.000 220 0.5% 212 34% 2 50% probably_damaging(0.977) tolerated(0.52) neutral(0.427) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF563 147837 genome.wustl.edu 37 19 12429697 12429697 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145276.2 -1 validated p.R381Q 0.000 464 0.2% 447 32% 2 50% probably_damaging(1) tolerated(0.56) deleterious(0.506) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF442 79973 genome.wustl.edu 37 19 12461125 12461125 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030824.2 -1 validated p.R425M 0.995 424 0% 428 31.1% 1 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF442 79973 genome.wustl.edu 37 19 12461293 12461293 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030824.2 -1 validated p.R369I 0.940 665 0% 583 33.1% 4 25% possibly_damaging(0.938) deleterious(0.04) deleterious(0.732) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF442 79973 genome.wustl.edu 37 19 12461809 12461809 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030824.2 -1 validated p.R197Q 0.000 471 0.2% 434 12.7% 0 - benign(0.426) tolerated(0.58) neutral(0.143) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF799 90576 genome.wustl.edu 37 19 12501388 12501388 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080821.1 -1 validated p.K608N 0.095 560 0% 529 26.3% 4 50% possibly_damaging(0.772) deleterious(0.02) deleterious(0.670) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF799 90576 genome.wustl.edu 37 19 12501557 12501557 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080821.1 -1 validated p.R552I 0.093 418 0% 389 31.1% 8 50% benign(0.294) deleterious(0.03) neutral(0.456) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12575333 12575333 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152601.3 -1 validated p.R468I 0.000 482 0% 393 32.6% 0 - possibly_damaging(0.894) tolerated(0.2) neutral(0.401) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF709 163051 genome.wustl.edu 37 19 12576257 12576257 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152601.3 -1 validated p.R160I 0.345 193 0% 127 28.3% 0 - possibly_damaging(0.831) tolerated(0.08) deleterious(0.616) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF564 163050 genome.wustl.edu 37 19 12637754 12637754 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144976.3 -1 validated p.D390N 1.000 377 0% 374 31.6% 2 0% unknown(0) deleterious(0.01) - superfamily_C2H2 and C2HC zinc fingers ZNF490 57474 genome.wustl.edu 37 19 12692248 12692248 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020714.2 -1 validated p.R214I 0.050 258 0% 339 33.6% 0 - possibly_damaging(0.789) tolerated(0.06) deleterious(0.619) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MAN2B1 4125 genome.wustl.edu 37 19 12760965 12760965 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000528.3 -1 reviewed p.G706 0.774 167 0% 161 27.3% 72 25% - - - superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C MAN2B1 4125 genome.wustl.edu 37 19 12763017 12763017 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000528.3 -1 reviewed p.Q666K 0.000 134 0% 160 30% 88 27.2% benign(0) tolerated(0.75) neutral(0.002) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C DHPS 1725 genome.wustl.edu 37 19 12792409 12792409 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001930.2 -1 reviewed p.N58Y 1.000 56 0% 37 27% 78 34.6% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_DS,superfamily_DHS-like NAD/FAD-binding domain BEST2 54831 genome.wustl.edu 37 19 12864107 12864107 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017682.2 +1 reviewed p.F62 0.967 271 0% 258 29.8% 0 - - - - HMMPfam_Bestrophin CALR 811 genome.wustl.edu 37 19 13051640 13051640 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004343.3 +1 reviewed p.S300Y 1.000 88 0% 92 33.7% 1626 42.1% possibly_damaging(0.722) deleterious(0.02) deleterious(0.645) HMMPfam_Calreticulin C19orf53 28974 genome.wustl.edu 37 19 13885490 13885490 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014047.2 +1 validated p.A41V 1.000 74 0% 77 28.6% 340 46.1% benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_DUF2462 C19orf57 79173 genome.wustl.edu 37 19 14000019 14000019 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024323.3 -1 predicted p.F550 0.000 21 0% 21 57.1% 2 0% - - - NULL C19orf57 79173 genome.wustl.edu 37 19 14015680 14015680 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024323.3 -1 predicted p.T9I 0.206 111 0% 97 27.8% 0 - possibly_damaging(0.901) deleterious(0.03) deleterious(0.722) NULL CD97 976 genome.wustl.edu 37 19 14517967 14517967 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_078481.2 +1 reviewed p.T768A 0.002 55 0% 65 32.3% 111 35.1% benign(0.004) tolerated(1) - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like EMR2 30817 genome.wustl.edu 37 19 14877057 14877057 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013447.2 -1 reviewed p.T208 0.012 44 0% 59 28.8% 0 - - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin OR7A5 26659 genome.wustl.edu 37 19 14938443 14938443 + Missense_Mutation SNP G G A rs143093089 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017506.1 -1 validated p.A204V 0.000 240 0% 341 32.8% 0 - benign(0) tolerated(0.77) neutral(0.001) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR7A2P 390894 genome.wustl.edu 37 19 14974642 14974642 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000304105 -1 known p.D296Y 0.876 112 0% 162 32.7% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_Family A G protein-coupled receptor-like OR7C2 26658 genome.wustl.edu 37 19 15052940 15052940 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012377.1 +1 provisional p.I214L 0.006 231 0% 272 33.8% 0 - benign(0.399) deleterious(0.02) deleterious(0.512) HMMPfam_7tm_1,superfamily_SSF81321 LOC100289597 100289597 genome.wustl.edu 37 19 15072861 15072861 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343628.1 +1 model p.E37K 0.999 324 0% 439 30.1% 0 - - - - NULL CCDC105 126402 genome.wustl.edu 37 19 15131442 15131442 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173482.2 +1 validated p.P282H 0.465 58 0% 71 32.4% 0 - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL BRD4 23476 genome.wustl.edu 37 19 15349196 15349196 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_058243.2 -1 reviewed p.L1361I 1.000 63 0% 62 30.6% 57 42.1% probably_damaging(0.984) - - NULL WIZ 58525 genome.wustl.edu 37 19 15547689 15547689 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021241.2 -1 validated p.R153W 0.165 14 0.000 9 0.444 1 0% benign(0.142) deleterious(0) neutral(0.457) NULL PGLYRP2 114770 genome.wustl.edu 37 19 15580623 15580623 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052890.3 -1 validated p.T487 0.001 9 0.000 10 0.500 0 - - - - HMMPfam_Amidase_2,HMMSmart_SM00644,superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701 CYP4F22 126410 genome.wustl.edu 37 19 15659953 15659953 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173483.3 +1 reviewed p.I425 1.000 192 0% 155 29% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F3 4051 genome.wustl.edu 37 19 15752390 15752390 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000896.2 +1 reviewed p.P55 0.000 75 0% 68 38.2% 1 0% - - - HMMPfam_p450,superfamily_Cytochrome_P450 OR10H3 26532 genome.wustl.edu 37 19 15853072 15853072 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013938.1 +1 provisional p.I290 1.000 636 0% 563 32% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000225607 0 genome.wustl.edu 37 19 15890582 15890582 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000412610 -1 known p.R47H 0.001 109 0% 57 35.1% 0 - - - - superfamily_Cytochrome P450 ZNF861P 100302737 genome.wustl.edu 37 19 15932940 15932940 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000292633 -1 known p.G61R 0.026 23 0% 12 41.7% 0 - - - - NULL OR10H4 126541 genome.wustl.edu 37 19 16060120 16060120 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004465.1 +1 validated p.Q101H 1.000 480 0% 446 25.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 CALR3 125972 genome.wustl.edu 37 19 16593513 16593513 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145046.3 -1 validated p.P254 0.000 36 0% 38 28.9% 0 - - - - HMMPfam_Calreticulin,superfamily_ConA_like_lec_gl,superfamily_Calret_calnex_P NWD1 284434 genome.wustl.edu 37 19 16899921 16899921 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007525.2 +1 validated p.K819Q 0.000 65 0% 113 27.4% 0 - benign(0) tolerated(0.61) neutral(0.004) HMMSmart_SM00320,superfamily_WD40 repeat-like NWD1 284434 genome.wustl.edu 37 19 16908614 16908614 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007525.2 +1 validated p.E991K 0.629 187 1.1% 197 35.5% 2 0% possibly_damaging(0.911) tolerated(0.18) neutral(0.419) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 NWD1 284434 genome.wustl.edu 37 19 16925938 16925938 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007525.2 +1 validated p.R1363Q 0.998 129 0% 129 21.7% 7 0% probably_damaging(0.999) tolerated(0.33) deleterious(0.514) NULL CPAMD8 27151 genome.wustl.edu 37 19 17085974 17085974 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015692.2 -1 validated p.R715Q 0.416 29 0% 33 36.4% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL MYO9B 4650 genome.wustl.edu 37 19 17273842 17273842 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004145.3 +1 reviewed p.F527 0.981 23 0% 21 23.8% 8 0% - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 USE1 55850 genome.wustl.edu 37 19 17330166 17330166 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018467.3 +1 validated p.A189 0.021 13 0% 16 25% 69 39.1% - - - HMMPfam_Use1 USHBP1 83878 genome.wustl.edu 37 19 17373675 17373675 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031941.3 -1 validated p.P110S 0.000 62 0% 55 29.1% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL ANO8 57719 genome.wustl.edu 37 19 17435963 17435963 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020959.2 -1 validated p.R965H 1.000 51 0% 40 40% 13 38.4% unknown(0) deleterious(0) - NULL PLVAP 83483 genome.wustl.edu 37 19 17476774 17476774 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031310.1 -1 provisional p.T167M 0.001 33 0% 63 34.9% 26 0% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_PV-1 SLC27A1 376497 genome.wustl.edu 37 19 17599836 17599836 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198580.1 +1 provisional p.G302 0.601 70 0% 54 24.1% 7 0% - - - HMMPfam_AMP-binding,superfamily_SSF56801 SLC27A1 376497 genome.wustl.edu 37 19 17611318 17611318 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198580.1 +1 provisional p.L450I 0.942 41 0% 42 28.6% 5 20% possibly_damaging(0.927) tolerated(0.12) deleterious(0.635) HMMPfam_AMP-binding,superfamily_SSF56801 MAST3 23031 genome.wustl.edu 37 19 18248060 18248060 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015016.1 +1 validated p.E633K 1.000 76 0% 55 47.3% 6 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FKBP8 23770 genome.wustl.edu 37 19 18643603 18643603 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012181.3 -1 reviewed p.T342 0.974 22 0% 34 44.1% 597 40% - - - superfamily_SSF48452 DDX49 54555 genome.wustl.edu 37 19 19035708 19035708 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019070.4 +1 validated p.T316M 0.998 43 0% 36 22.2% 94 52.1% possibly_damaging(0.525) deleterious(0.04) deleterious(0.526) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 HOMER3 9454 genome.wustl.edu 37 19 19042181 19042181 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145722.1 -1 reviewed p.E283K 0.326 43 0% 58 24.1% 57 42.1% possibly_damaging(0.919) tolerated(0.26) neutral(0.403) NULL NCAN 1463 genome.wustl.edu 37 19 19359640 19359640 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004386.2 +1 validated p.R1257* 0.995 100 0% 174 31% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module GATAD2A 54815 genome.wustl.edu 37 19 19576180 19576180 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017660.3 +1 provisional p.R9Q 1.000 109 0% 94 23.4% 9 55.5% probably_damaging(0.997) tolerated(0.07) deleterious(0.785) NULL ATP13A1 57130 genome.wustl.edu 37 19 19757027 19757027 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020410.2 -1 validated p.R1079W 1.000 19 0% 40 40% 107 37.3% probably_damaging(0.996) tolerated(0.14) deleterious(0.711) NULL ZNF101 94039 genome.wustl.edu 37 19 19790184 19790184 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033204.2 +1 provisional p.R129Q 0.593 154 0% 189 31.7% 0 - benign(0.411) tolerated(0.27) neutral(0.167) NULL ZNF101 94039 genome.wustl.edu 37 19 19790703 19790703 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033204.2 +1 provisional p.R302I 0.220 98 0% 139 26.6% 2 0% benign(0.076) tolerated(0.08) neutral(0.305) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF101 94039 genome.wustl.edu 37 19 19790729 19790729 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033204.2 +1 provisional p.E311K 0.001 120 0% 157 32.5% 4 25% benign(0) tolerated(0.42) neutral(0.014) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2 ZNF14 7561 genome.wustl.edu 37 19 19823476 19823476 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021030.2 -1 reviewed p.T205I 0.037 199 0% 218 22.5% 0 - possibly_damaging(0.55) deleterious(0) deleterious(0.631) HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF506 440515 genome.wustl.edu 37 19 19906181 19906181 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099269.2 -1 validated p.S172Y 0.000 113 0% 110 31.8% 0 - possibly_damaging(0.463) tolerated(0.35) neutral(0.172) superfamily_SSF57667 ZNF253 56242 genome.wustl.edu 37 19 19989320 19989320 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021047.2 +1 provisional p.E12* 0.622 319 0% 206 31.1% 4 0% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LOC100128975 100128975 genome.wustl.edu 37 19 20047944 20047944 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001719745.1 -1 model p.E115G 0.035 259 0% 113 31% 0 - - - - NULL ZNF682 91120 genome.wustl.edu 37 19 20133876 20133876 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033196.2 -1 validated p.R55C 0.042 215 0% 187 23.5% 1 100% benign(0) tolerated(0.68) neutral(0.002) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF90 7643 genome.wustl.edu 37 19 20228884 20228884 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007138.1 +1 validated p.K174R 0.000 121 0% 123 30.9% 0 - possibly_damaging(0.751) tolerated(0.05) deleterious(0.621) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF486 90649 genome.wustl.edu 37 19 20295253 20295253 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052852.2 +1 provisional p.D40A 0.603 416 0% 386 26.7% 0 - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF486 90649 genome.wustl.edu 37 19 20308132 20308132 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052852.2 +1 provisional p.T205A 0.996 219 0% 249 32.5% 0 - benign(0.003) tolerated(0.07) neutral(0.319) superfamily_SSF57667 ZNF626 199777 genome.wustl.edu 37 19 20808275 20808275 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001076675.2 -1 validated p.C136 0.000 305 0% 261 28.7% 0 - - - - NULL ZNF85 7639 genome.wustl.edu 37 19 21116860 21116860 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003429.3 +1 validated p.E12* 0.585 385 0% 339 28.3% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF430 80264 genome.wustl.edu 37 19 21239953 21239953 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025189.3 +1 validated p.K280R 0.991 348 0% 281 32.7% 4 75% possibly_damaging(0.783) tolerated(0.09) deleterious(0.589) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF714 148206 genome.wustl.edu 37 19 21300851 21300851 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000291770 +1 known p.F461V 0.968 268 0% 288 29.5% 3 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF431 170959 genome.wustl.edu 37 19 21365838 21365838 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133473.2 +1 validated p.F244 0.035 335 0% 366 28.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF431 170959 genome.wustl.edu 37 19 21366174 21366174 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133473.2 +1 validated p.F356 0.000 226 0% 284 32% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF431 170959 genome.wustl.edu 37 19 21366243 21366243 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133473.2 +1 validated p.K379N 0.994 276 0% 250 27.2% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF708 7562 genome.wustl.edu 37 19 21476330 21476330 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021269.2 -1 validated p.E480* 0.877 226 0% 231 33.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF708 7562 genome.wustl.edu 37 19 21493328 21493328 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021269.2 -1 validated p.E35D 0.147 234 0.4% 198 32.3% 0 - benign(0.402) deleterious(0.02) deleterious(0.512) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF493 284443 genome.wustl.edu 37 19 21605911 21605911 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001076678.2 +1 validated p.Q150 0.295 307 0% 229 12.2% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21607296 21607296 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001076678.2 +1 validated p.R612Q 0.000 225 0.4% 192 62.5% 0 - benign(0.056) tolerated(0.45) neutral(0.015) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF429 353088 genome.wustl.edu 37 19 21719964 21719964 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001415.2 +1 provisional p.K370T 0.000 171 0% 161 26.7% 0 - benign(0.26) tolerated(0.09) neutral(0.324) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC400682 400682 genome.wustl.edu 37 19 21838700 21838700 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001726878.1 +1 model p.F142C 0.000 124 0% 121 24.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 21991162 21991162 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003423.2 -1 validated p.I559M 0.998 326 0% 332 29.2% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 21991460 21991460 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003423.2 -1 validated p.G460V 1.000 319 0% 299 27.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 21992001 21992001 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003423.2 -1 validated p.R280C 0.991 222 0% 249 33.7% 0 - benign(0.017) deleterious(0) neutral(0.445) superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 21992055 21992055 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003423.2 -1 validated p.E262* 0.002 198 0% 216 30.6% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 22001993 22001993 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003423.2 -1 validated p.E12* 0.987 302 0.3% 273 27.8% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF208 7757 genome.wustl.edu 37 19 22155446 22155446 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007153.3 -1 provisional p.R697I 0.000 378 0% 282 30.5% 0 - benign(0.006) tolerated(0.18) neutral(0.056) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22157160 22157160 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007153.3 -1 provisional p.E226K 0.130 313 0.6% 226 24.8% 0 - benign(0.064) tolerated(0.07) neutral(0.323) superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22157524 22157524 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007153.3 -1 provisional p.E104 0.005 257 0% 173 34.7% 0 - - - - NULL ZNF257 113835 genome.wustl.edu 37 19 22270800 22270800 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033468.2 +1 provisional p.E83A 0.143 133 0% 117 30.8% 0 - benign(0.064) tolerated(0.07) neutral(0.323) NULL ZNF257 113835 genome.wustl.edu 37 19 22271082 22271082 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000397123 +1 known e4+2 0.000 133 0% 161 29.8% 0 - - - - - ZNF257 113835 genome.wustl.edu 37 19 22271727 22271727 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033468.2 +1 provisional p.R392I 1.000 137 0% 174 32.2% 0 - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22496808 22496808 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343636.1 +1 model p.R64* 0.000 32 0% 44 43.2% 0 - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22497663 22497663 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343636.1 +1 model p.H349N 0.997 443 0% 443 30% 0 - benign(0.187) deleterious(0) neutral(0.462) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22498223 22498223 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343636.1 +1 model p.F535 0.000 295 0% 320 35% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22574322 22574322 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098626.1 -1 validated p.K572T 0.069 58 0% 85 34.1% 0 - benign(0.416) deleterious(0) deleterious(0.579) NULL ZNF98 148198 genome.wustl.edu 37 19 22574713 22574713 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098626.1 -1 validated p.A442S 0.820 227 0% 211 42.7% 0 - possibly_damaging(0.436) deleterious(0.04) deleterious(0.491) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22574992 22574992 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098626.1 -1 validated p.F349L 0.977 283 0% 290 30.7% 0 - benign(0) tolerated(0.06) neutral(0.323) superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22575070 22575070 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098626.1 -1 validated p.K323Q 0.000 353 0% 324 19.8% 0 - possibly_damaging(0.802) deleterious(0.02) deleterious(0.685) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF492 57615 genome.wustl.edu 37 19 22846757 22846757 + Nonsense_Mutation SNP G G T rs112130958 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020855.2 +1 validated p.E96* 0.001 119 0% 100 29% 2 0% - - - NULL ZNF492 57615 genome.wustl.edu 37 19 22847294 22847294 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020855.2 +1 validated p.H275N 0.993 394 0% 321 19.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC646864 646864 genome.wustl.edu 37 19 23040775 23040775 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001726885.1 +1 model p.R390I 0.717 217 0% 242 31.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC646864 646864 genome.wustl.edu 37 19 23040930 23040930 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001726885.1 +1 model p.T442A 0.074 211 0% 205 31.2% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23159063 23159063 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001726961.1 -1 model p.K359T 0.976 320 0% 298 32.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23159480 23159480 + Missense_Mutation SNP C C A rs144353074 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001726961.1 -1 model p.R220I 0.988 245 0.8% 211 34.6% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF728 388523 genome.wustl.edu 37 19 23171218 23171218 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001726961.1 -1 model p.F13L 0.485 360 0% 230 26.5% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF91 7644 genome.wustl.edu 37 19 23543076 23543076 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003430.2 -1 validated p.R902I 0.101 242 0% 224 35.7% 4 25% benign(0.378) tolerated(0.17) neutral(0.179) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23543496 23543496 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003430.2 -1 validated p.R762I 0.691 277 0% 275 30.2% 1 0% benign(0.002) tolerated(0.13) neutral(0.253) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23543607 23543607 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003430.2 -1 validated p.R725Q 0.000 271 0% 253 26.5% 1 0% possibly_damaging(0.628) tolerated(0.35) neutral(0.239) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23543691 23543691 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003430.2 -1 validated p.R697Q 0.000 387 0% 336 12.8% 1 0% unknown(0) tolerated(0.35) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF91 7644 genome.wustl.edu 37 19 23544828 23544828 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003430.2 -1 validated p.G318E 0.833 437 0.2% 382 23.3% 0 - possibly_damaging(0.788) tolerated(0.11) deleterious(0.567) superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23836068 23836068 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138330.2 -1 validated p.K556T 0.946 157 0% 157 37.6% 5 20% benign(0.245) tolerated(0.08) neutral(0.325) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23837500 23837500 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138330.2 -1 validated p.S79A 0.250 181 0% 178 25.8% 0 - probably_damaging(0.99) tolerated(0.33) neutral(0.466) NULL ENSG00000104777 0 genome.wustl.edu 37 19 24102081 24102081 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000300996 -1 known NULL 0.001 162 0% 133 23.3% 0 - - - - - ZNF726 730087 genome.wustl.edu 37 19 24116149 24116149 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000322487 +1 known p.N411D 0.001 184 0% 142 29.6% 0 - benign(0.226) tolerated(0.27) neutral(0.056) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24309339 24309339 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203282.2 +1 validated p.K179N 1.000 374 0% 370 28.9% 6 33.3% benign(0.175) tolerated(0.17) neutral(0.075) superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24310499 24310499 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203282.2 +1 validated p.R566I 0.968 324 0.3% 298 26.2% 8 75% benign(0.079) tolerated(0.25) neutral(0.042) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers URI1 8725 genome.wustl.edu 37 19 30503408 30503408 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003796.2 +1 reviewed p.K465N 0.030 261 0% 162 35.2% 43 44.1% benign(0.086) deleterious(0.02) neutral(0.390) NULL URI1 8725 genome.wustl.edu 37 19 30505891 30505891 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003796.2 +1 reviewed p.R508Q 0.998 757 0.1% 452 26.1% 22 40.9% benign(0.144) deleterious(0.01) neutral(0.418) NULL ZNF536 9745 genome.wustl.edu 37 19 30934886 30934886 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014717.1 +1 provisional p.F139 1.000 62 0% 39 15.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF536 9745 genome.wustl.edu 37 19 31040323 31040323 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014717.1 +1 provisional p.S1266L 1.000 52 0% 126 78.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TSHZ3 57616 genome.wustl.edu 37 19 31769119 31769119 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020856.2 -1 validated p.E527G 1.000 277 0% 212 34% 2 0% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL TSHZ3 57616 genome.wustl.edu 37 19 31769926 31769926 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020856.2 -1 validated p.R258H 1.000 370 0% 302 31.5% 0 - probably_damaging(0.977) deleterious(0) deleterious(0.863) NULL DPY19L3 147991 genome.wustl.edu 37 19 32954342 32954342 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207325.2 +1 validated p.Y465D 1.000 213 0% 172 25.6% 3 0% probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_DUF2211 ANKRD27 84079 genome.wustl.edu 37 19 33135287 33135287 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032139.2 -1 validated p.A157T 0.743 193 0% 207 32.9% 6 50% benign(0.001) tolerated(0.6) neutral(0.004) superfamily_SSF109993 SLC7A9 11136 genome.wustl.edu 37 19 33324115 33324115 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001126335.1 -1 reviewed p.G447S 1.000 228 0% 193 16.1% 0 - probably_damaging(0.975) deleterious(0.04) deleterious(0.766) HMMPfam_AA_permease SLC7A9 11136 genome.wustl.edu 37 19 33350776 33350776 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001126335.1 -1 reviewed p.E282K 1.000 38 0% 26 46.2% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_AA_permease CEP89 84902 genome.wustl.edu 37 19 33390846 33390846 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032816.3 -1 validated p.E598K 0.976 211 0% 228 35.5% 13 38.4% probably_damaging(0.998) tolerated(0.64) deleterious(0.477) NULL WDR88 126248 genome.wustl.edu 37 19 33639783 33639783 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173479.3 +1 validated p.A216T 0.626 207 0% 177 27.7% 0 - possibly_damaging(0.49) tolerated(0.18) neutral(0.219) superfamily_WD40 repeat-like RPS4XP21 126235 genome.wustl.edu 37 19 34513755 34513755 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000334591 -1 known p.K199N 1.000 42 0% 50 24% 0 - - - - NULL RPS4XP21 126235 genome.wustl.edu 37 19 34583602 34583602 + Missense_Mutation SNP G G A rs137882021 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000469064 -1 known p.T216M 0.994 42 0% 46 37% 0 - benign(0.002) tolerated(0.16) neutral(0.059) NULL RPS4XP21 126235 genome.wustl.edu 37 19 34583965 34583965 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000469064 -1 known p.G95E 1.000 117 0% 108 20.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF599 148103 genome.wustl.edu 37 19 35250401 35250401 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007248.2 -1 validated p.S435 0.009 143 0% 137 31.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF792 126375 genome.wustl.edu 37 19 35448950 35448950 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175872.4 -1 validated p.E603D 0.041 76 0% 72 16.7% 0 - possibly_damaging(0.649) tolerated(0.41) neutral(0.243) NULL FAM187B 148109 genome.wustl.edu 37 19 35718915 35718915 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152481.1 -1 provisional p.L223 0.000 62 0% 75 30.7% 0 - - - - NULL HAMP 57817 genome.wustl.edu 37 19 35773519 35773520 + In_Frame_Ins INS - - CTC novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021175.2 +1 reviewed p.17in_frame_insL 0.984:0.987 - - - - - - - - - HMMPfam_Hepcidin CD22 933 genome.wustl.edu 37 19 35832839 35832839 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001771.3 +1 validated p.R669H 0.003 242 0.4% 263 30% 0 - benign(0.002) tolerated(0.06) neutral(0.323) HMMSmart_SM00409,superfamily_Immunoglobulin FFAR3 2865 genome.wustl.edu 37 19 35850257 35850257 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005304.3 +1 validated p.F155L 0.000 88 0% 97 23.7% 0 - benign(0.055) tolerated(0.34) neutral(0.026) HMMPfam_7tm_1,superfamily_SSF81321 FFAR3 2865 genome.wustl.edu 37 19 35850397 35850397 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005304.3 +1 validated p.Y202C 1.000 58 0% 70 21.4% 0 - benign(0.054) deleterious(0.01) neutral(0.409) HMMPfam_7tm_1,superfamily_SSF81321 GAPDHS 26330 genome.wustl.edu 37 19 36034688 36034688 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014364.4 +1 reviewed p.K339E 0.996 40 0% 39 35.9% 2 100% benign(0) tolerated(1) - HMMPfam_Gp_dh_C,superfamily_SSF55347 MLL4 9757 genome.wustl.edu 37 19 36220075 36220075 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014727.1 +1 reviewed p.L1599V 1.000 25 0% 32 34.4% 5 20% possibly_damaging(0.666) - - NULL NPHS1 4868 genome.wustl.edu 37 19 36336295 36336295 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004646.3 -1 reviewed p.S635 1.000 36 0% 41 36.6% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin NPHS1 4868 genome.wustl.edu 37 19 36342709 36342709 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004646.3 -1 reviewed p.L11I 0.101 7 0.000 6 0.667 0 - unknown(0) deleterious(0.04) - NULL KIRREL2 84063 genome.wustl.edu 37 19 36357303 36357303 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199180.2 +1 validated p.F679S 0.993 124 0% 97 29.9% 2 50% benign(0.071) deleterious(0.01) neutral(0.411) NULL KIRREL2 84063 genome.wustl.edu 37 19 36357398 36357398 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032123.5 +1 validated p.S621Y 0.142 144 0% 94 23.4% 0 - possibly_damaging(0.604) tolerated(0.1) deleterious(0.496) NULL WDR62 284403 genome.wustl.edu 37 19 36594454 36594454 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083961.1 +1 validated p.V1242M 0.000 56 0% 37 32.4% 9 77.7% benign(0.313) tolerated(0.08) neutral(0.397) NULL ZNF565 147929 genome.wustl.edu 37 19 36673664 36673664 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042474.1 -1 validated p.R402C 0.005 206 0% 251 25.9% 3 66.6% benign(0.231) tolerated(0.22) neutral(0.065) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF146 7705 genome.wustl.edu 37 19 36727979 36727979 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099638.1 +1 validated p.E213K 0.994 179 0% 206 31.6% 38 39.4% benign(0.002) tolerated(0.45) neutral(0.012) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP14 57677 genome.wustl.edu 37 19 36832078 36832078 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020917.1 -1 provisional p.R217Q 0.001 309 0% 258 32.2% 0 - benign(0.153) tolerated(0.95) neutral(0.013) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP14 57677 genome.wustl.edu 37 19 36832181 36832181 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020917.1 -1 provisional p.R183C 0.148 392 0% 306 28.4% 0 - probably_damaging(0.997) tolerated(0.18) deleterious(0.522) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP14 57677 genome.wustl.edu 37 19 36853105 36853105 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020917.1 -1 provisional p.F15L 1.000 184 0% 189 23.3% 1 100% benign(0.227) deleterious(0.04) neutral(0.371) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box LOC644189 644189 genome.wustl.edu 37 19 36913052 36913052 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_016949.3 +1 model NULL 1.000 112 0% 106 33% 0 - - - - - ZNF529 57711 genome.wustl.edu 37 19 37038837 37038837 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145649.1 -1 validated p.F208C 0.030 157 0% 167 33.5% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_C2H2 and C2HC zinc fingers ZNF382 84911 genome.wustl.edu 37 19 37117689 37117689 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032825.3 +1 validated p.H297R 0.656 278 0% 309 30.7% 2 0% benign(0) deleterious(0.03) neutral(0.364) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF382 84911 genome.wustl.edu 37 19 37118166 37118166 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032825.3 +1 validated p.R456I 1.000 224 0% 240 35.8% 0 - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF461 92283 genome.wustl.edu 37 19 37129898 37129898 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153257.2 -1 validated p.F450C 0.957 218 0% 219 23.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF567 163081 genome.wustl.edu 37 19 37211368 37211368 + Missense_Mutation SNP G G T rs192986331 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152603.2 +1 provisional p.R550I 1.000 107 0% 136 28.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF790 388536 genome.wustl.edu 37 19 37309621 37309621 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206894.2 -1 validated p.S542Y 0.203 208 0% 196 34.7% 1 100% possibly_damaging(0.777) deleterious(0) deleterious(0.734) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF829 374899 genome.wustl.edu 37 19 37382626 37382626 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037232.3 -1 validated p.E356A 0.436 186 0% 195 27.7% 0 - possibly_damaging(0.78) deleterious(0.01) deleterious(0.697) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF568 374900 genome.wustl.edu 37 19 37441006 37441006 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198539.2 +1 validated p.Q317H 0.016 138 0% 143 30.1% 0 - benign(0.032) tolerated(0.14) neutral(0.251) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF568 374900 genome.wustl.edu 37 19 37441156 37441156 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198539.2 +1 validated p.C367 1.000 185 0% 179 31.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF568 374900 genome.wustl.edu 37 19 37487993 37487993 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000455427 +1 known p.S403N 0.000 36 0% 30 46.7% 0 - possibly_damaging(0.736) tolerated(0.21) neutral(0.313) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF420 147923 genome.wustl.edu 37 19 37581970 37581970 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144689.3 +1 provisional p.R28I 0.559 203 0% 163 30.1% 0 - benign(0.056) deleterious(0) neutral(0.448) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF585A 199704 genome.wustl.edu 37 19 37644119 37644119 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152655.2 -1 validated p.D173Y 0.299 392 0% 408 32.8% 2 0% probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF585B 92285 genome.wustl.edu 37 19 37676394 37676394 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152279.3 -1 validated p.R682I 0.997 409 0% 387 22.2% 1 100% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37677410 37677410 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152279.3 -1 validated p.T343 0.027 511 0% 382 27.7% 2 0% - - - superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37677638 37677638 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152279.3 -1 validated p.E267 1.000 522 0% 452 27.4% 0 - - - - superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37677920 37677920 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152279.3 -1 validated p.F173L 0.036 350 0.3% 315 29.8% 0 - probably_damaging(0.988) tolerated(1) neutral(0.438) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37680979 37680979 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152279.3 -1 validated p.R49I 0.983 254 0% 206 33.5% 1 100% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF569 148266 genome.wustl.edu 37 19 37904067 37904067 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152484.2 -1 validated p.E498G 0.004 171 0% 207 31.9% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF569 148266 genome.wustl.edu 37 19 37904496 37904496 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152484.2 -1 validated p.K355T 0.204 252 0% 283 27.9% 0 - benign(0.07) tolerated(0.18) neutral(0.061) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF570 148268 genome.wustl.edu 37 19 37966850 37966850 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144694.1 +1 provisional p.S34F 1.000 301 0% 308 29.5% 0 - probably_damaging(0.965) tolerated(0.06) deleterious(0.730) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF570 148268 genome.wustl.edu 37 19 37975114 37975114 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144694.1 +1 provisional p.R197I 0.477 450 0% 424 29.5% 1 100% benign(0.077) deleterious(0.01) neutral(0.411) superfamily_C2H2 and C2HC zinc fingers ZNF793 390927 genome.wustl.edu 37 19 38028578 38028578 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013659.2 +1 validated p.R340C 0.006 59 0% 90 34.4% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF793 390927 genome.wustl.edu 37 19 38028712 38028712 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013659.2 +1 validated p.R384 0.434 51 0% 69 26.1% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP30 22835 genome.wustl.edu 37 19 38126967 38126967 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014898.2 -1 validated p.E159K 0.036 266 0% 204 27.9% 1 100% probably_damaging(0.999) tolerated(0.89) deleterious(0.490) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF781 163115 genome.wustl.edu 37 19 38160678 38160678 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152605.3 -1 validated p.K124N 0.114 254 0.4% 254 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 ZNF607 84775 genome.wustl.edu 37 19 38189263 38189263 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032689.4 -1 validated p.E590G 0.034 128 0% 155 23.2% 4 75% benign(0.051) tolerated(0.38) neutral(0.021) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF607 84775 genome.wustl.edu 37 19 38190382 38190382 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032689.4 -1 validated p.R217I 0.369 200 0% 219 25.1% 0 - possibly_damaging(0.95) deleterious(0.05) deleterious(0.739) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF607 84775 genome.wustl.edu 37 19 38190715 38190715 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032689.4 -1 validated p.R106I 0.261 166 0% 140 33.6% 0 - benign(0.378) tolerated(0.24) neutral(0.158) superfamily_C2H2 and C2HC zinc fingers CATSPERG 57828 genome.wustl.edu 37 19 38860873 38860873 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021185.4 +1 validated p.P1063L 0.000 68 0% 81 33.3% 0 - benign(0.072) deleterious(0.03) neutral(0.369) NULL FAM98C 147965 genome.wustl.edu 37 19 38895721 38895721 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174905.3 +1 validated p.A175T 0.940 71 1.4% 120 24.2% 36 63.8% probably_damaging(0.999) tolerated(0.31) deleterious(0.517) HMMPfam_DUF2465 RYR1 6261 genome.wustl.edu 37 19 38934430 38934430 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000540.2 +1 reviewed p.A140T 0.997 116 0% 95 32.6% 0 - benign(0.009) - - HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 RYR1 6261 genome.wustl.edu 37 19 38981328 38981328 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000540.2 +1 reviewed p.R2028Q 0.999 111 0% 132 37.9% 0 - benign(0.389) - - NULL RYR1 6261 genome.wustl.edu 37 19 39023370 39023370 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000540.2 +1 reviewed p.S3751 0.998 63 0% 44 38.6% 0 - - - - NULL HNRNPL 3191 genome.wustl.edu 37 19 39327370 39327370 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001533.2 -1 reviewed p.A588T 1.000 390 0% 280 22.9% 588 39.4% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL PAF1 54623 genome.wustl.edu 37 19 39880008 39880008 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019088.2 -1 provisional p.A125 0.010 67 0% 65 30.8% 50 52% - - - HMMPfam_Paf1 SUPT5H 6829 genome.wustl.edu 37 19 39960840 39960840 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001111020.2 +1 validated p.E486K 1.000 298 0% 274 28.1% 78 44.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_KOW,HMMSmart_SM00739,superfamily_Translation proteins SH3-like domain DLL3 10683 genome.wustl.edu 37 19 39995961 39995961 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016941.3 +1 reviewed p.C321* 1.000 59 0% 62 17.7% 1 0% - - - HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 LOC148003 148003 genome.wustl.edu 37 19 40149281 40149281 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001721341.1 +1 model p.R122C 0.018 47 0% 61 16.4% 0 - benign(0.02) tolerated(0.26) neutral(0.035) HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases FBL 2091 genome.wustl.edu 37 19 40331282 40331282 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001436.3 -1 reviewed p.G52 0.002 180 0% 206 31.1% 26 26.9% - - - NULL FCGBP 8857 genome.wustl.edu 37 19 40370207 40370207 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003890.2 -1 validated p.I4153 0.304 211 0% 196 12.2% 0 - - - - HMMPfam_VWD,HMMSmart_VWD FCGBP 8857 genome.wustl.edu 37 19 40376760 40376760 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003890.2 -1 validated p.D3888Y 0.043 217 0.5% 167 14.4% 2 0% unknown(0) tolerated(0.12) - HMMPfam_C8 PSMC4 5704 genome.wustl.edu 37 19 40478337 40478337 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006503.2 +1 reviewed p.K66T 1.000 82 0% 65 36.9% 126 52.3% benign(0.064) deleterious(0) neutral(0.449) NULL ZNF780B 163131 genome.wustl.edu 37 19 40541836 40541836 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005851.2 -1 validated p.C310 1.000 369 0% 371 29.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40580565 40580565 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142577.1 -1 validated p.R596Q 0.000 401 0% 385 27% 1 100% benign(0.036) tolerated(0.59) neutral(0.006) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40581216 40581216 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142577.1 -1 validated p.R379H 0.000 548 0% 442 30.5% 1 100% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40581406 40581406 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142577.1 -1 validated p.R316* 0.000 505 0.2% 451 32.8% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers AKT2 208 genome.wustl.edu 37 19 40761146 40761146 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001626.3 -1 reviewed p.R69Q 0.995 250 0% 195 17.4% 48 18.7% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 HIPK4 147746 genome.wustl.edu 37 19 40889827 40889827 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144685.3 -1 provisional p.E229K 0.996 65 0% 64 37.5% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SPTBN4 57731 genome.wustl.edu 37 19 41071391 41071391 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020971.2 +1 reviewed p.A1993V 0.998 59 0% 38 23.7% 1 100% possibly_damaging(0.894) deleterious(0.01) deleterious(0.758) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat RAB4B 53916 genome.wustl.edu 37 19 41286403 41286403 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016154.3 +1 validated p.R71W 1.000 28 0% 24 33.3% 34 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CYP2B6 1555 genome.wustl.edu 37 19 41509950 41509950 + Silent SNP G G A rs28399485 TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000767.4 +1 reviewed p.P72 0.000 118 0% 112 45.5% 2 0% - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP2F1 1572 genome.wustl.edu 37 19 41627951 41627951 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000774.3 +1 reviewed p.I245 0.343 133 0% 181 34.3% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 AXL 558 genome.wustl.edu 37 19 41727877 41727877 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021913.3 +1 reviewed p.P168S 1.000 27 0% 31 38.7% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,superfamily_Immunoglobulin AXL 558 genome.wustl.edu 37 19 41743919 41743919 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021913.3 +1 reviewed p.S285L 0.958 236 0% 239 27.6% 8 0% benign(0) tolerated(0.81) neutral(0.001) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CEACAM5 1048 genome.wustl.edu 37 19 42224988 42224988 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004363.2 +1 validated p.L640I 0.504 200 0.5% 214 28.5% 99 4% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CEACAM6 4680 genome.wustl.edu 37 19 42266002 42266002 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002483.4 +1 validated p.F277L 0.000 169 0% 155 29% 70 7.1% benign(0) tolerated(1) - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ATP1A3 478 genome.wustl.edu 37 19 42485658 42485658 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152296.3 -1 reviewed p.Y478C 1.000 124 0% 91 28.6% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 POU2F2 5452 genome.wustl.edu 37 19 42599712 42599712 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002698.2 -1 validated p.E297D 1.000 30 0% 18 38.9% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like CEACAM1 634 genome.wustl.edu 37 19 43016516 43016516 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001712.4 -1 reviewed p.F454 0.000 166 0% 225 28% 3 66.6% - - - NULL CEACAM1 634 genome.wustl.edu 37 19 43023250 43023250 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001712.4 -1 reviewed p.L366F 0.001 138 0% 123 40.7% 5 20% possibly_damaging(0.666) deleterious(0) deleterious(0.680) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CEACAM8 1088 genome.wustl.edu 37 19 43093852 43093852 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001816.3 -1 validated p.S154A 0.081 717 0% 639 26.8% 6 0% possibly_damaging(0.824) tolerated(0.26) neutral(0.346) HMMSmart_SM00409,superfamily_Immunoglobulin CEACAM8 1088 genome.wustl.edu 37 19 43098046 43098046 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001816.3 -1 validated p.L24H 0.033 738 0% 807 38.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V-set PSG3 5671 genome.wustl.edu 37 19 43234003 43234003 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021016.3 -1 validated p.T305 0.627 617 0% 534 25.7% 0 - - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 PSG3 5671 genome.wustl.edu 37 19 43237124 43237124 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021016.3 -1 validated p.P174L 0.011 840 0.2% 768 29.3% 0 - benign(0) tolerated(0.17) neutral(0.059) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 PSG1 5669 genome.wustl.edu 37 19 43372357 43372357 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006905.2 -1 validated p.F380S 0.023 495 0% 454 28.6% 0 - benign(0) tolerated(0.67) neutral(0.003) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PSG11 5680 genome.wustl.edu 37 19 43519445 43519445 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002785.2 -1 validated p.A263T 0.001 459 0% 384 38% 0 - benign(0) tolerated(0.62) neutral(0.004) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PSG11 5680 genome.wustl.edu 37 19 43529050 43529050 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002785.2 -1 validated p.L75I 0.000 747 0% 666 25.1% 0 - possibly_damaging(0.492) tolerated(0.43) neutral(0.178) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin LYPD3 27076 genome.wustl.edu 37 19 43965973 43965973 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014400.2 -1 validated p.R191W 0.928 96 1% 83 28.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UPAR_LY6 PHLDB3 653583 genome.wustl.edu 37 19 44006256 44006256 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198850.3 -1 validated p.I131 1.000 33 0% 35 14.3% 0 - - - - NULL ZNF428 126299 genome.wustl.edu 37 19 44118444 44118444 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182498.3 -1 validated p.R5C 1.000 75 0% 107 43% 117 41% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ZNF283 284349 genome.wustl.edu 37 19 44351269 44351269 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181845.1 +1 validated p.E172D 0.013 93 0% 62 25.8% 0 - benign(0.002) tolerated(0.32) neutral(0.024) NULL ZNF404 342908 genome.wustl.edu 37 19 44376932 44376932 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033719.2 -1 validated p.S478 0.000 101 0% 86 23.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF404 342908 genome.wustl.edu 37 19 44377174 44377174 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001033719.2 -1 validated p.L398I 0.114 94 0% 86 36% 0 - possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF45 7596 genome.wustl.edu 37 19 44418697 44418697 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003425.3 -1 validated p.V297 0.700 197 0% 190 30% 5 60% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF221 7638 genome.wustl.edu 37 19 44469478 44469478 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013359.2 +1 validated e3+1 0.011 143 0% 138 34.8% 0 - - - - - ZNF155 7711 genome.wustl.edu 37 19 44501043 44501043 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003445.2 +1 validated p.R345I 0.004 421 0% 374 34.5% 2 0% unknown(0) tolerated(0.34) - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF222 7673 genome.wustl.edu 37 19 44536909 44536909 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001129996.1 +1 validated p.R401K 0.004 181 0% 203 26.1% 1 0% benign(0.343) tolerated(0.47) neutral(0.119) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF223 7766 genome.wustl.edu 37 19 44571023 44571023 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013361.4 +1 validated p.E348* 0.280 294 0% 263 27.8% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF223 7766 genome.wustl.edu 37 19 44571086 44571086 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013361.4 +1 validated p.E369* 1.000 241 0% 220 29.5% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF223 7766 genome.wustl.edu 37 19 44571414 44571414 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013361.4 +1 validated p.F478C 0.017 117 0% 102 26.5% 0 - benign(0.003) deleterious(0) neutral(0.445) NULL ZNF284 342909 genome.wustl.edu 37 19 44591158 44591158 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037813.2 +1 provisional p.K509 0.958 190 0% 199 32.7% 0 - - - - superfamily_SSF57667 ZNF225 7768 genome.wustl.edu 37 19 44635770 44635770 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013362.2 +1 validated p.R335C 0.003 462 0% 460 28% 1 0% benign(0.122) tolerated(0.2) neutral(0.059) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF226 7769 genome.wustl.edu 37 19 44681046 44681046 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001032372.1 +1 validated p.S544* 0.158 247 0% 276 31.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF227 7770 genome.wustl.edu 37 19 44739561 44739561 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182490.1 +1 provisional p.C326 0.088 169 0% 161 33.5% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF233 353355 genome.wustl.edu 37 19 44778496 44778496 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181756.1 +1 provisional p.E561D 1.000 308 0% 309 31.7% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) superfamily_C2H2 and C2HC zinc fingers ZNF235 9310 genome.wustl.edu 37 19 44792470 44792470 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004234.4 -1 reviewed p.K373T 1.000 141 0% 129 17.1% 0 - probably_damaging(0.954) deleterious(0.01) deleterious(0.803) superfamily_C2H2 and C2HC zinc fingers ZFP112 7771 genome.wustl.edu 37 19 44831920 44831920 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001083335.1 -1 validated p.R803I 0.997 359 0% 372 11.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_C2H2 and C2HC zinc fingers ZNF285 26974 genome.wustl.edu 37 19 44890896 44890896 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152354.3 -1 validated p.R504I 0.661 192 0% 153 30.7% 0 - benign(0.081) tolerated(0.17) neutral(0.065) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF229 7772 genome.wustl.edu 37 19 44933328 44933328 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014518.2 -1 validated p.K543T 0.946 216 0% 188 25% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_C2H2 and C2HC zinc fingers ZNF229 7772 genome.wustl.edu 37 19 44934086 44934086 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014518.2 -1 validated p.E290D 0.920 92 0% 83 14.5% 0 - benign(0.051) tolerated(0.27) neutral(0.037) superfamily_C2H2 and C2HC zinc fingers ZNF229 7772 genome.wustl.edu 37 19 44934249 44934249 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014518.2 -1 validated p.I236T 0.001 144 0% 130 23.1% 0 - benign(0.202) tolerated(0.65) neutral(0.022) NULL ZNF229 7772 genome.wustl.edu 37 19 44934346 44934346 + Nonsense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014518.2 -1 validated p.K204* 0.000 159 0% 164 31.1% 0 - - - - NULL ZNF180 7733 genome.wustl.edu 37 19 44980740 44980740 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013256.3 -1 validated p.R653I 1.000 656 0.2% 517 35.4% 4 25% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44980908 44980908 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013256.3 -1 validated p.R597I 0.998 583 0% 438 15.3% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44980992 44980992 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013256.3 -1 validated p.R569K 1.000 544 0% 408 32.4% 6 83.3% probably_damaging(0.982) tolerated(0.32) neutral(0.451) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers QPCTL 54814 genome.wustl.edu 37 19 46198903 46198903 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017659.3 +1 validated p.S187* 1.000 48 0% 57 33.3% 3 0% - - - HMMPfam_Peptidase_M28,superfamily_SSF53187 SYMPK 8189 genome.wustl.edu 37 19 46345720 46345720 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004819.2 -1 reviewed p.S292L 1.000 85 0% 100 30% 25 36% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat FOXA3 3171 genome.wustl.edu 37 19 46375766 46375766 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004497.2 +1 reviewed p.S168L 1.000 223 0% 220 40.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 IRF2BP1 26145 genome.wustl.edu 37 19 46388373 46388373 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015649.1 -1 provisional p.E220 1.000 47 0% 46 26.1% 43 51.1% - - - NULL IGFL4 444882 genome.wustl.edu 37 19 46543451 46543451 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002923.1 -1 provisional p.D98E 0.001 256 0% 255 12.5% 0 - benign(0.121) tolerated(0.95) neutral(0.009) NULL IGFL4 444882 genome.wustl.edu 37 19 46544204 46544204 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002923.1 -1 provisional p.S6Y 0.000 25 0% 28 32.1% 0 - benign(0.037) tolerated(0.1) neutral(0.288) NULL IGFL2 147920 genome.wustl.edu 37 19 46664106 46664106 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002915.2 +1 validated p.C114 0.001 130 0% 164 36% 2 0% - - - NULL ARHGAP35 2909 genome.wustl.edu 37 19 47422697 47422697 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004491.4 +1 reviewed p.K255N 0.998 119 0% 107 38.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SLC8A2 6543 genome.wustl.edu 37 19 47944679 47944679 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015063.2 -1 validated p.K594N 1.000 30 0% 42 23.8% 0 - benign(0.089) tolerated(0.48) neutral(0.017) HMMPfam_Calx-beta,HMMSmart_SM00237 CRX 1406 genome.wustl.edu 37 19 48342596 48342596 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000554.4 +1 reviewed p.R91M 0.995 623 0% 614 29.6% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 CABP5 56344 genome.wustl.edu 37 19 48543967 48543967 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019855.3 -1 reviewed p.D45Y 1.000 185 0% 147 29.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 PLA2G4C 8605 genome.wustl.edu 37 19 48558278 48558278 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003706.2 -1 reviewed p.R429H 0.003 57 0% 76 36.8% 1 0% benign(0.006) tolerated(0.13) neutral(0.253) HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase IZUMO1 284359 genome.wustl.edu 37 19 49246712 49246712 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182575.2 -1 validated p.Y163 0.000 45 0% 39 33.3% 0 - - - - superfamily_Immunoglobulin PLEKHA4 57664 genome.wustl.edu 37 19 49341331 49341331 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020904.2 -1 validated p.L674F 1.000 113 0% 127 25.2% 8 0% benign(0.053) tolerated(0.07) neutral(0.323) NULL TULP2 7288 genome.wustl.edu 37 19 49398363 49398363 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003323.2 -1 validated p.D136N 0.045 148 0% 175 28.6% 0 - possibly_damaging(0.846) deleterious(0) deleterious(0.770) NULL CGB7 94027 genome.wustl.edu 37 19 49557794 49557794 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033142.1 -1 reviewed p.F84 0.959 79 0% 71 14.1% 4 0% - - - HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501 KCNA7 3743 genome.wustl.edu 37 19 49573956 49573956 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031886.2 -1 reviewed p.I245 1.000 62 0% 70 27.1% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 LIN7B 64130 genome.wustl.edu 37 19 49619697 49619697 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022165.2 +1 validated p.R136C 1.000 37 0% 38 23.7% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ CPT1C 126129 genome.wustl.edu 37 19 50213615 50213615 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152359.1 +1 provisional p.K535N 1.000 94 0% 134 15.7% 3 0% benign(0.01) tolerated(0.24) neutral(0.038) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases TSKS 60385 genome.wustl.edu 37 19 50243431 50243431 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021733.1 -1 reviewed p.R503C 1.000 228 0% 211 28.9% 2 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL ATF5 22809 genome.wustl.edu 37 19 50436243 50436243 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012068.4 +1 validated p.R248H 1.000 42 0% 42 31% 49 36.7% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_BRLZ,HMMPfam_bZIP_1 ZNF473 25888 genome.wustl.edu 37 19 50549532 50549532 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001006656.1 +1 validated p.R611K 0.307 156 0% 196 28.1% 2 0% benign(0.002) tolerated(0.65) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers IZUMO2 126123 genome.wustl.edu 37 19 50666340 50666340 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152358.2 -1 validated p.A38T 0.002 31 0% 35 40% 0 - probably_damaging(0.959) deleterious(0.02) deleterious(0.786) NULL KCNC3 3748 genome.wustl.edu 37 19 50827028 50827028 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004977.2 -1 reviewed p.L394 0.996 38 0% 39 12.8% 2 0% - - - HMMPfam_Ion_trans,superfamily_SSF81324 NAPSA 9476 genome.wustl.edu 37 19 50862331 50862331 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004851.1 -1 reviewed p.P324 0.807 59 0% 85 24.7% 0 - - - - HMMPfam_Asp,superfamily_Pept_Aspartic NR1H2 7376 genome.wustl.edu 37 19 50882274 50882274 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007121.4 +1 validated p.A255T 0.474 81 0% 51 29.4% 130 25.3% benign(0) tolerated(0.57) neutral(0.006) superfamily_Nuclear receptor ligand-binding domain LRRC4B 94030 genome.wustl.edu 37 19 51022595 51022595 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080457.1 -1 provisional p.I125 1.000 27 0% 39 28.2% 0 - - - - HMMPfam_LRR_1,superfamily_SSF52058 KLK3 354 genome.wustl.edu 37 19 51359542 51359542 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001648.2 +1 reviewed p.C31 0.006 164 0% 175 21.7% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK4 9622 genome.wustl.edu 37 19 51412524 51412524 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004917.3 -1 reviewed p.A70T 0.364 126 0% 122 35.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS KLK5 25818 genome.wustl.edu 37 19 51452216 51452216 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001077491.1 -1 reviewed p.R164H 0.000 60 0% 66 42.4% 0 - possibly_damaging(0.925) tolerated(0.19) neutral(0.423) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK8 11202 genome.wustl.edu 37 19 51503408 51503408 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144505.1 -1 reviewed p.D158N 0.001 83 0% 135 35.6% 1 0% benign(0) tolerated(0.61) neutral(0.004) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SIGLEC7 27036 genome.wustl.edu 37 19 51649378 51649378 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014385.2 +1 validated p.G343C 0.000 137 0% 132 10.6% 2 0% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL ENSG00000171101 0 genome.wustl.edu 37 19 51671098 51671098 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000341811 +1 known p.K102Q 0.000 96 0% 72 36.1% 0 - benign(0.347) deleterious(0.01) deleterious(0.516) HMMSmart_IG,superfamily_SSF48726 CD33 945 genome.wustl.edu 37 19 51728768 51728768 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001772.3 +1 validated p.R111M 0.000 300 0% 286 28% 0 - possibly_damaging(0.494) tolerated(0.1) neutral(0.451) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIGLEC10 89790 genome.wustl.edu 37 19 51919987 51919987 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033130.4 -1 validated p.L213 1.000 85 0% 82 30.5% 4 25% - - - HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin SIGLEC10 89790 genome.wustl.edu 37 19 51920820 51920820 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033130.4 -1 validated p.L6M 0.126 90 0% 74 32.4% 1 0% - - - NULL SIGLEC8 27181 genome.wustl.edu 37 19 51958904 51958904 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014442.2 -1 validated p.V273 0.002 88 0% 76 30.3% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin SIGLEC8 27181 genome.wustl.edu 37 19 51960723 51960723 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014442.2 -1 validated p.D242G 0.000 76 0% 98 34.7% 2 0% benign(0.028) deleterious(0.03) neutral(0.366) HMMSmart_SM00409,superfamily_Immunoglobulin CEACAM18 729767 genome.wustl.edu 37 19 51986279 51986279 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080405.1 +1 provisional p.D289N 0.001 200 0% 252 36.5% 0 - possibly_damaging(0.946) deleterious(0.01) deleterious(0.796) superfamily_Immunoglobulin ZNF175 7728 genome.wustl.edu 37 19 52091239 52091239 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007147.2 +1 validated p.I552S 0.701 235 0% 231 24.7% 4 0% benign(0.011) tolerated(0.11) neutral(0.272) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF175 7728 genome.wustl.edu 37 19 52091486 52091486 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007147.2 +1 validated p.Q634 0.922 371 0% 326 25.8% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HAS1 3036 genome.wustl.edu 37 19 52222512 52222512 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001523.2 -1 reviewed p.E217K 1.000 97 0% 64 32.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF53448 LOC100287831 100287831 genome.wustl.edu 37 19 52249948 52249948 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343694.1 +1 model p.E176K 0.005 266 0% 270 27.4% 8 0% - - - NULL FPR3 2359 genome.wustl.edu 37 19 52327365 52327365 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002030.3 +1 validated p.D122N 1.000 369 0% 315 11.1% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like ZNF577 84765 genome.wustl.edu 37 19 52376303 52376303 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032679.2 -1 validated p.T314P 0.013 188 0% 202 27.2% 2 0% probably_damaging(0.991) deleterious(0.05) deleterious(0.789) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF649 65251 genome.wustl.edu 37 19 52394376 52394376 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023074.3 -1 validated p.R338Q 0.984 226 0.9% 192 35.9% 7 42.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF613 79898 genome.wustl.edu 37 19 52443551 52443551 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031721.3 +1 validated p.D35 0.958 297 1% 300 32.7% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF613 79898 genome.wustl.edu 37 19 52448311 52448311 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031721.3 +1 validated p.R392Q 0.988 196 0.5% 228 31.1% 1 100% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF613 79898 genome.wustl.edu 37 19 52448820 52448820 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031721.3 +1 validated p.L562F 0.000 103 0% 105 33.3% 2 0% benign(0) tolerated(0.44) neutral(0.013) NULL ZNF615 284370 genome.wustl.edu 37 19 52496146 52496146 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198480.2 -1 provisional p.R728I 0.001 402 0% 366 32.2% 4 50% probably_damaging(0.954) deleterious(0.01) deleterious(0.803) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF615 284370 genome.wustl.edu 37 19 52497238 52497238 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198480.2 -1 provisional p.R364Q 0.957 201 0% 197 28.9% 2 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF615 284370 genome.wustl.edu 37 19 52497516 52497516 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198480.2 -1 provisional p.K271N 0.015 304 0% 283 36% 0 - probably_damaging(0.978) tolerated(0.24) neutral(0.458) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF614 80110 genome.wustl.edu 37 19 52519532 52519532 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025040.3 -1 validated p.R440H 0.000 369 0% 362 29.8% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF432 9668 genome.wustl.edu 37 19 52537754 52537754 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014650.2 -1 provisional p.R393Q 0.295 284 0% 251 32.7% 1 0% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF841 284371 genome.wustl.edu 37 19 52568865 52568865 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136499.1 -1 validated p.R757I 0.403 83 0% 86 31.4% 1 100% probably_damaging(0.997) tolerated(0.14) deleterious(0.716) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF841 284371 genome.wustl.edu 37 19 52569031 52569031 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136499.1 -1 validated p.N702H 0.000 70 0% 73 27.4% 5 0% possibly_damaging(0.765) deleterious(0) deleterious(0.728) superfamily_SSF57667 ZNF841 284371 genome.wustl.edu 37 19 52570545 52570545 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136499.1 -1 validated p.K197R 0.000 7 0.000 12 0.417 1 0% benign(0.381) tolerated(0.84) neutral(0.122) NULL ZNF841 284371 genome.wustl.edu 37 19 52570753 52570753 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136499.1 -1 validated p.N128H 0.004 26 0% 14 28.6% 0 - possibly_damaging(0.8) tolerated(0.06) deleterious(0.623) NULL ZNF616 90317 genome.wustl.edu 37 19 52618543 52618543 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178523.3 -1 validated p.R625I 0.010 169 0% 225 36.9% 6 83.3% benign(0.044) tolerated(0.17) neutral(0.061) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52620065 52620065 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178523.3 -1 validated p.N118D 0.000 287 0% 329 32.5% 2 100% probably_damaging(0.955) tolerated(0.6) neutral(0.403) NULL ZNF836 162962 genome.wustl.edu 37 19 52659971 52659971 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102657.1 -1 provisional p.R322I 1.000 109 0% 115 29.6% 0 - probably_damaging(0.999) tolerated(0.2) deleterious(0.539) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PPP2R1A 5518 genome.wustl.edu 37 19 52716329 52716329 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014225.5 +1 reviewed p.R258H 0.998 34 0% 44 40.9% 332 45.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat ZNF766 90321 genome.wustl.edu 37 19 52793606 52793606 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010851.2 +1 validated p.E188K 0.000 285 0% 269 27.1% 7 0% benign(0.001) tolerated(1) - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF766 90321 genome.wustl.edu 37 19 52794168 52794168 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010851.2 +1 validated p.R375I 0.053 101 0% 108 25.9% 6 0% benign(0.294) tolerated(0.19) neutral(0.141) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF480 147657 genome.wustl.edu 37 19 52817467 52817467 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144684.2 +1 validated p.D45G 0.758 366 0% 332 29.2% 2 50% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF480 147657 genome.wustl.edu 37 19 52825330 52825330 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144684.2 +1 validated p.R276Q 0.000 138 0% 159 29.6% 2 0% possibly_damaging(0.696) tolerated(0.75) neutral(0.251) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF480 147657 genome.wustl.edu 37 19 52826068 52826068 + Missense_Mutation SNP G G A rs189217102 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144684.2 +1 validated p.R522H 0.000 130 0% 157 21% 3 66.6% benign(0.001) tolerated(0.69) neutral(0.002) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF610 162963 genome.wustl.edu 37 19 52869757 52869757 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173530.2 +1 validated p.E376K 0.025 165 0% 136 29.4% 3 33.3% probably_damaging(0.988) deleterious(0.04) deleterious(0.786) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF880 400713 genome.wustl.edu 37 19 52887948 52887948 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145434.1 +1 validated p.R372I 0.031 120 0% 136 30.1% 1 0% benign(0.028) tolerated(0.29) neutral(0.031) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF528 84436 genome.wustl.edu 37 19 52918555 52918555 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032423.2 +1 validated p.K150N 0.000 160 0% 137 28.5% 5 60% possibly_damaging(0.836) tolerated(0.15) deleterious(0.560) NULL ZNF528 84436 genome.wustl.edu 37 19 52919846 52919846 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032423.2 +1 validated p.E581K 0.022 132 0% 117 28.2% 0 - benign(0.199) tolerated(0.11) neutral(0.291) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF534 147658 genome.wustl.edu 37 19 52937243 52937243 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143939.1 +1 validated p.F17L 0.999 189 0% 165 27.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF578 147660 genome.wustl.edu 37 19 53014323 53014323 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099694.1 +1 validated p.S230Y 0.063 372 0.5% 369 24.1% 0 - probably_damaging(0.974) tolerated(0.06) deleterious(0.738) superfamily_C2H2 and C2HC zinc fingers ENSG00000248326 0 genome.wustl.edu 37 19 53015754 53015754 + RNA SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000502966 -1 novel NULL 1.000 51 0% 69 26.1% 0 - - - - - ZNF600 162966 genome.wustl.edu 37 19 53270128 53270128 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198457.2 -1 validated p.R294I 0.994 546 0% 533 30.2% 6 33.3% benign(0.047) tolerated(0.21) neutral(0.047) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000245932 0 genome.wustl.edu 37 19 53302002 53302002 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000500436 +1 known NULL 0.012 55 0% 47 34% 0 - - - - - ZNF468 90333 genome.wustl.edu 37 19 53344312 53344312 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008801.1 -1 validated p.K412T 0.275 383 0% 498 32.9% 8 37.5% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF160 90338 genome.wustl.edu 37 19 53572789 53572789 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102603.1 -1 reviewed p.R333Q 0.012 236 0% 226 22.6% 2 0% probably_damaging(0.999) tolerated(0.25) deleterious(0.527) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF415 55786 genome.wustl.edu 37 19 53612087 53612087 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018355.2 -1 validated p.R404I 0.054 211 0% 257 33.9% 0 - probably_damaging(0.992) tolerated(0.07) deleterious(0.766) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF415 55786 genome.wustl.edu 37 19 53613051 53613051 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018355.2 -1 validated p.E83* 0.014 217 0% 229 24% 0 - - - - NULL ZNF347 84671 genome.wustl.edu 37 19 53644310 53644310 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032584.2 -1 validated p.H591Y 0.998 487 0% 459 34.2% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF677 342926 genome.wustl.edu 37 19 53741048 53741048 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182609.2 -1 provisional p.R311I 0.001 135 0% 162 32.7% 0 - possibly_damaging(0.699) tolerated(0.75) neutral(0.253) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF765 91661 genome.wustl.edu 37 19 53911344 53911344 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040185.1 +1 provisional p.R179I 0.000 193 0% 202 28.7% 1 100% benign(0.061) tolerated(0.12) neutral(0.265) NULL ZNF765 91661 genome.wustl.edu 37 19 53911569 53911569 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001040185.1 +1 provisional p.S254L 0.000 237 0% 261 34.9% 1 100% benign(0) tolerated(0.1) neutral(0.286) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF761 388561 genome.wustl.edu 37 19 53957910 53957910 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008401.3 +1 validated p.S50Y 0.212 139 0% 142 21.1% 0 - - - - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF813 126017 genome.wustl.edu 37 19 53994082 53994082 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004301.3 +1 validated p.S199Y 0.026 417 0% 408 29.2% 0 - benign(0.124) tolerated(0.35) neutral(0.030) superfamily_SSF57667 DPRX 503834 genome.wustl.edu 37 19 54135382 54135382 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012728.1 +1 validated p.R8C 0.545 268 0% 263 30.8% 0 - benign(0.062) deleterious(0) neutral(0.449) superfamily_Homeodomain_like MIR518B 574474 genome.wustl.edu 37 19 54205992 54205992 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000385127 +1 known NULL 0.002 154 0% 99 32.3% 0 - - - - - MIR520C 574476 genome.wustl.edu 37 19 54210781 54210781 + RNA SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000385005 +1 known NULL 0.004 162 0% 163 24.5% 0 - - - - - MIR517B 574483 genome.wustl.edu 37 19 54224374 54224374 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000385102 +1 known NULL 0.056 403 0% 359 29.2% 0 - - - - - LILRB3 11025 genome.wustl.edu 37 19 54722664 54722664 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081450.1 -1 reviewed p.E490D 0.000 93 0% 79 31.6% 5 0% benign(0.039) tolerated(0.67) neutral(0.005) NULL LILRA6 79168 genome.wustl.edu 37 19 54744415 54744415 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024318.2 -1 validated p.P331 0.001 103 0% 91 13.2% 3 0% - - - HMMSmart_IG,superfamily_SSF48726 LILRB5 10990 genome.wustl.edu 37 19 54759153 54759153 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081442.1 -1 reviewed p.I316 0.832 39 0% 27 25.9% 6 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin LILRB2 10288 genome.wustl.edu 37 19 54782725 54782725 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005874.3 -1 reviewed p.A299 0.000 41 0% 44 29.5% 3 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin LILRA3 11026 genome.wustl.edu 37 19 54803070 54803070 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006865.3 -1 validated p.R203C 0.000 217 0% 186 35.5% 3 0% possibly_damaging(0.732) deleterious(0.01) deleterious(0.673) superfamily_SSF48726 KIR3DX1 90011 genome.wustl.edu 37 19 55046933 55046933 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000335056 +1 known p.Q160* 0.000 143 0% 110 27.3% 0 - - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin LILRA2 11027 genome.wustl.edu 37 19 55085561 55085561 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130917.1 +1 validated p.R18M 0.000 170 0% 104 33.7% 0 - possibly_damaging(0.76) tolerated(0.09) deleterious(0.578) NULL LILRA2 11027 genome.wustl.edu 37 19 55086445 55086445 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001130917.1 +1 validated p.S200 0.000 210 0% 120 30.8% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin KIR2DL4 3805 genome.wustl.edu 37 19 55316319 55316319 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080770.1 +1 reviewed p.R50W 0.000 270 0% 272 33.8% 0 - benign(0.003) tolerated(0.07) neutral(0.319) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin KIR3DL1 3811 genome.wustl.edu 37 19 55329963 55329963 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013289.2 +1 reviewed p.A88 0.000 351 0% 409 31.5% 0 - - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCAR 2204 genome.wustl.edu 37 19 55399546 55399546 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002000.2 +1 reviewed p.F178 0.022 67 0% 67 31.3% 0 - - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin NLRP7 199713 genome.wustl.edu 37 19 55445041 55445041 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127255.1 -1 reviewed p.K846N 0.023 131 0% 136 30.1% 0 - benign(0.026) deleterious(0.03) neutral(0.365) HMMSmart_SM00368,superfamily_RNI-like NLRP7 199713 genome.wustl.edu 37 19 55450266 55450266 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127255.1 -1 reviewed p.E641* 0.000 155 0% 156 25.6% 1 0% - - - superfamily_RNI-like NLRP7 199713 genome.wustl.edu 37 19 55450294 55450294 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127255.1 -1 reviewed p.E631D 0.674 136 0% 147 37.4% 0 - benign(0.079) tolerated(0.28) neutral(0.037) superfamily_RNI-like NLRP7 199713 genome.wustl.edu 37 19 55451755 55451755 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127255.1 -1 reviewed p.D144E 0.000 459 0% 393 34.6% 0 - benign(0.02) tolerated(1) neutral(0.001) superfamily_P-loop containing nucleoside triphosphate hydrolases TNNI3 7137 genome.wustl.edu 37 19 55663261 55663261 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000363.4 -1 reviewed p.R192C 1.000 127 0% 124 25% 32 28.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP9 338321 genome.wustl.edu 37 19 56243505 56243505 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176820.2 -1 reviewed p.F564L 0.056 209 0% 279 29% 0 - benign(0.041) tolerated(0.85) neutral(0.003) NULL NLRP9 338321 genome.wustl.edu 37 19 56244303 56244303 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176820.2 -1 reviewed p.F298L 0.122 299 0% 325 29.2% 0 - benign(0.018) tolerated(0.31) neutral(0.028) HMMPfam_NACHT NLRP11 204801 genome.wustl.edu 37 19 56300736 56300736 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145007.3 -1 validated p.I848T 0.000 374 0% 300 30% 0 - benign(0.382) tolerated(0.25) neutral(0.159) HMMSmart_SM00368,superfamily_RNI-like NLRP11 204801 genome.wustl.edu 37 19 56320643 56320643 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145007.3 -1 validated p.R445C 0.000 263 0% 180 31.7% 0 - benign(0.015) tolerated(0.32) neutral(0.025) NULL NLRP11 204801 genome.wustl.edu 37 19 56321075 56321075 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145007.3 -1 validated p.S301P 0.000 164 0% 153 28.8% 0 - probably_damaging(0.998) tolerated(0.27) deleterious(0.508) HMMPfam_NACHT NLRP8 126205 genome.wustl.edu 37 19 56466904 56466904 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176811.2 +1 provisional p.R494W 0.002 273 0.4% 221 35.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NLRP8 126205 genome.wustl.edu 37 19 56467186 56467186 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176811.2 +1 provisional p.L588 0.003 143 0% 124 29.8% 0 - - - - NULL NLRP5 126206 genome.wustl.edu 37 19 56538555 56538555 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153447.4 +1 reviewed p.L319P 0.108 31 0% 21 42.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_NACHT,superfamily_SSF52540 NLRP5 126206 genome.wustl.edu 37 19 56569737 56569737 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153447.4 +1 reviewed p.S1144L 0.001 59 0% 68 20.6% 0 - possibly_damaging(0.602) tolerated(0.11) deleterious(0.480) superfamily_SSF52047 ZNF582 147948 genome.wustl.edu 37 19 56895244 56895244 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144690.1 -1 provisional p.S514 0.000 172 0.6% 228 28.5% 0 - - - - NULL ZNF582 147948 genome.wustl.edu 37 19 56896125 56896125 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144690.1 -1 provisional p.H221N 0.974 184 0% 214 29% 1 0% benign(0.389) deleterious(0) deleterious(0.569) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF667 63934 genome.wustl.edu 37 19 56952997 56952997 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022103.3 -1 validated p.S456L 0.009 140 0% 108 35.2% 0 - possibly_damaging(0.829) deleterious(0) deleterious(0.759) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF471 57573 genome.wustl.edu 37 19 57036956 57036956 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020813.2 +1 validated p.R507I 1.000 162 0% 166 67.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF470 388566 genome.wustl.edu 37 19 57085793 57085793 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001668.3 +1 validated p.D31Y 0.997 235 0% 225 27.6% 0 - possibly_damaging(0.901) deleterious(0.03) deleterious(0.722) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF470 388566 genome.wustl.edu 37 19 57088227 57088227 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001668.3 +1 validated p.L144V 0.000 117 0% 135 31.1% 1 0% possibly_damaging(0.882) tolerated(0.29) neutral(0.373) NULL ZNF470 388566 genome.wustl.edu 37 19 57088960 57088960 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001668.3 +1 validated p.R388Q 0.023 152 0% 144 28.5% 1 100% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF835 90485 genome.wustl.edu 37 19 57174989 57174989 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005850.1 -1 provisional p.C548 0.000 76 0% 58 37.9% 2 0% - - - NULL PEG3 5178 genome.wustl.edu 37 19 57325628 57325628 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006210.2 -1 reviewed p.A1394 1.000 268 0% 259 28.6% 0 - - - - NULL PEG3 5178 genome.wustl.edu 37 19 57326930 57326930 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006210.2 -1 reviewed p.Q960H 0.000 437 0% 413 29.8% 0 - benign(0.002) tolerated(0.08) neutral(0.300) NULL PEG3 5178 genome.wustl.edu 37 19 57335808 57335808 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006210.2 -1 reviewed p.L72 0.779 156 0% 134 32.1% 0 - - - - HMMPfam_SCAN,HMMSmart_SM00431 PEG3 5178 genome.wustl.edu 37 19 57335876 57335876 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006210.2 -1 reviewed p.R50W 0.999 120 0% 112 28.6% 0 - benign(0) deleterious(0) neutral(0.445) HMMPfam_SCAN,HMMSmart_SM00431 USP29 57663 genome.wustl.edu 37 19 57641656 57641656 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020903.2 +1 validated p.S538Y 0.947 242 0% 258 29.1% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_UCH,superfamily_SSF54001 ZIM3 114026 genome.wustl.edu 37 19 57647398 57647398 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052882.1 -1 provisional p.E103* 0.007 350 0% 350 32% 0 - - - - NULL DUXA 503835 genome.wustl.edu 37 19 57666692 57666692 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012729.1 -1 validated p.E163K 0.012 92 0% 89 28.1% 0 - benign(0.004) tolerated(0.15) neutral(0.241) HMMSmart_HOX,superfamily_Homeodomain_like DUXA 503835 genome.wustl.edu 37 19 57672135 57672135 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012729.1 -1 validated p.R19H 0.086 142 0.7% 125 30.4% 0 - benign(0.148) deleterious(0) neutral(0.458) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ZNF264 9422 genome.wustl.edu 37 19 57723370 57723370 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003417.4 +1 reviewed p.F302C 0.963 135 0% 100 26% 1 100% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF460 10794 genome.wustl.edu 37 19 57802704 57802704 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006635.3 +1 validated p.S265 0.000 164 0% 118 33.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF460 10794 genome.wustl.edu 37 19 57802833 57802833 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006635.3 +1 validated p.F308 0.000 181 0% 170 37.6% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF543 125919 genome.wustl.edu 37 19 57840299 57840299 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_213598.3 +1 validated p.R490H 0.261 149 0% 115 35.7% 3 33.3% probably_damaging(1) tolerated(0.55) deleterious(0.507) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF304 57343 genome.wustl.edu 37 19 57868009 57868009 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020657.2 +1 validated p.N258H 0.865 214 0.5% 185 28.1% 0 - possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF304 57343 genome.wustl.edu 37 19 57868238 57868238 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020657.2 +1 validated p.S334Y 0.003 252 0% 226 28.3% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) superfamily_C2H2 and C2HC zinc fingers ZNF304 57343 genome.wustl.edu 37 19 57868301 57868301 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020657.2 +1 validated p.R355K 0.922 293 0% 232 31.5% 0 - possibly_damaging(0.775) tolerated(0.22) neutral(0.330) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF547 284306 genome.wustl.edu 37 19 57888615 57888615 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173631.2 +1 validated p.T91A 0.004 253 0% 184 33.2% 0 - benign(0.21) tolerated(0.08) neutral(0.321) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF548 147694 genome.wustl.edu 37 19 57908451 57908451 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152909.3 +1 validated p.F17L 0.993 1454 0.1% 1662 8.6% 5 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF548 147694 genome.wustl.edu 37 19 57908517 57908517 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152909.3 +1 validated p.E39D 0.990 1651 0.1% 1822 30% 5 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF17 7565 genome.wustl.edu 37 19 57932571 57932571 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006959.2 +1 validated p.R571W 0.000 207 0% 194 35.6% 2 50% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100288507 100288507 genome.wustl.edu 37 19 57955686 57955686 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343700.1 -1 model p.E230* 0.110 529 0% 442 25.8% 0 - benign(0.158) tolerated(0.07) neutral(0.333) NULL ZNF749 388567 genome.wustl.edu 37 19 57956327 57956327 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001023561.2 +1 provisional p.R604I 0.001 568 0% 413 29.3% 1 100% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF773 374928 genome.wustl.edu 37 19 58018469 58018470 + Frame_Shift_Del DEL TG TG - novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198542.1 +1 provisional p.C336fs 0.990:1.000 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF773 374928 genome.wustl.edu 37 19 58024419 58024419 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000332030 +1 known p.E136K 0.066 29 0% 39 23.1% 0 - possibly_damaging(0.539) deleterious(0) deleterious(0.627) NULL ZNF549 256051 genome.wustl.edu 37 19 58050005 58050005 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153263.1 +1 provisional p.L532I 0.000 205 0% 170 24.1% 1 100% benign(0.025) tolerated(1) neutral(0.001) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF550 162972 genome.wustl.edu 37 19 58067653 58067653 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039654.1 -1 provisional p.R25G 0.999 181 0% 134 29.9% 0 - possibly_damaging(0.491) deleterious(0) deleterious(0.608) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZIK1 284307 genome.wustl.edu 37 19 58102303 58102303 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010879.2 +1 provisional p.G375E 1.000 236 0% 259 31.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Multiheme cytochromes,superfamily_C2H2 and C2HC zinc fingers ZIK1 284307 genome.wustl.edu 37 19 58102389 58102389 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010879.2 +1 provisional p.E404* 1.000 235 0% 268 24.3% 0 - - - - superfamily_Multiheme cytochromes,superfamily_C2H2 and C2HC zinc fingers ZNF530 348327 genome.wustl.edu 37 19 58118052 58118052 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020880.3 +1 validated p.A387T 0.000 329 0% 339 33.3% 0 - benign(0.052) tolerated(0.38) neutral(0.021) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF134 7693 genome.wustl.edu 37 19 58131631 58131631 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003435.3 +1 provisional p.T48 0.000 200 0% 195 26.2% 1 100% - - - superfamily_C2H2 and C2HC zinc fingers ZNF134 7693 genome.wustl.edu 37 19 58131904 58131904 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003435.3 +1 provisional p.K139N 0.000 183 0.5% 150 32.7% 3 66.6% possibly_damaging(0.919) deleterious(0.01) deleterious(0.775) superfamily_C2H2 and C2HC zinc fingers ZNF551 90233 genome.wustl.edu 37 19 58198578 58198578 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138347.3 +1 validated p.R296H 0.997 319 0.3% 307 28% 1 0% probably_damaging(1) - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF551 90233 genome.wustl.edu 37 19 58199270 58199270 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138347.3 +1 validated p.R527C 0.000 324 0% 305 15.1% 3 0% benign(0.075) tolerated(0.09) neutral(0.301) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF154 7710 genome.wustl.edu 37 19 58213615 58213615 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085384.1 -1 validated p.K234 0.143 484 0% 355 31.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF154 7710 genome.wustl.edu 37 19 58213673 58213673 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085384.1 -1 validated p.R215Q 0.001 435 0.5% 323 33.4% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_SSF57667 ZNF154 7710 genome.wustl.edu 37 19 58213859 58213859 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001085384.1 -1 validated p.R153I 0.038 632 0% 432 28.7% 0 - probably_damaging(0.976) deleterious(0.02) deleterious(0.801) superfamily_SSF57667 ZNF776 284309 genome.wustl.edu 37 19 58264652 58264652 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000431353 +1 known p.F57L 0.028 152 0% 142 31% 0 - benign(0.009) tolerated(0.37) neutral(0.019) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF814 730051 genome.wustl.edu 37 19 58388404 58388404 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144989.1 -1 validated p.V15L 0.308 333 0% 335 13.7% 0 - possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF417 147687 genome.wustl.edu 37 19 58420580 58420580 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152475.2 -1 validated p.E356K 0.012 633 0% 597 24.3% 1 0% benign(0.129) tolerated(0.06) neutral(0.334) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF417 147687 genome.wustl.edu 37 19 58420810 58420810 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152475.2 -1 validated p.R279Q 0.000 550 0.2% 520 21.3% 1 0% benign(0) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF417 147687 genome.wustl.edu 37 19 58421196 58421196 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152475.2 -1 validated p.K150N 0.000 562 0% 533 19.3% 0 - benign(0.071) tolerated(0.41) neutral(0.020) NULL ZNF418 147686 genome.wustl.edu 37 19 58441838 58441838 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133460.1 -1 provisional p.H31Y 0.000 197 0% 190 27.9% 0 - benign(0.337) tolerated(1) neutral(0.106) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF256 10172 genome.wustl.edu 37 19 58453101 58453101 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005773.2 -1 validated p.S359P 0.000 268 0% 317 24.9% 0 - probably_damaging(0.989) tolerated(0.22) deleterious(0.481) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C19orf18 147685 genome.wustl.edu 37 19 58477985 58477985 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152474.4 -1 predicted p.R95I 0.957 44 0% 55 29.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ZNF606 80095 genome.wustl.edu 37 19 58490033 58490033 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025027.3 -1 validated p.R672I 1.000 288 0% 272 36% 0 - possibly_damaging(0.909) deleterious(0.02) deleterious(0.745) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF606 80095 genome.wustl.edu 37 19 58490338 58490338 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025027.3 -1 validated p.C570 0.024 216 0% 229 26.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF606 80095 genome.wustl.edu 37 19 58491088 58491088 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025027.3 -1 validated p.K320N 1.000 266 0% 241 23.2% 1 0% benign(0.123) tolerated(0.71) neutral(0.011) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF135 7694 genome.wustl.edu 37 19 58578103 58578103 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000511556 +1 known p.L96R 0.995 87 0% 78 29.5% 0 - probably_damaging(0.983) tolerated(0.15) deleterious(0.670) NULL ZSCAN18 65982 genome.wustl.edu 37 19 58601483 58601483 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145542.1 -1 validated p.R107H 0.982 27 0% 34 41.2% 26 30.7% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_SCAN,HMMSmart_SCAN ZSCAN18 65982 genome.wustl.edu 37 19 58601532 58601532 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145542.1 -1 validated p.E91K 0.000 39 0% 29 13.8% 32 53.1% benign(0.008) tolerated(0.35) neutral(0.021) NULL ZNF329 79673 genome.wustl.edu 37 19 58639305 58639305 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024620.3 -1 validated p.K522N 0.013 123 0% 117 31.6% 1 0% benign(0.005) tolerated(0.33) neutral(0.024) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF329 79673 genome.wustl.edu 37 19 58639565 58639565 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024620.3 -1 validated p.F436L 1.000 91 0% 74 29.7% 1 0% possibly_damaging(0.914) deleterious(0.01) deleterious(0.772) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF329 79673 genome.wustl.edu 37 19 58639834 58639834 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024620.3 -1 validated p.S346N 0.002 101 0% 102 27.5% 2 0% possibly_damaging(0.918) tolerated(1) neutral(0.368) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF329 79673 genome.wustl.edu 37 19 58640035 58640035 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024620.3 -1 validated p.R279I 1.000 137 0% 124 29% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF274 10782 genome.wustl.edu 37 19 58724115 58724115 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000424679 +1 known p.S522Y 0.005 217 0% 195 25.1% 11 54.5% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF8 7554 genome.wustl.edu 37 19 58806637 58806637 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021089.2 +1 validated p.T488I 0.815 239 0% 255 34.1% 0 - benign(0.05) tolerated(1) neutral(0.003) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZSCAN22 342945 genome.wustl.edu 37 19 58850058 58850058 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181846.2 +1 validated p.S281L 0.000 259 0.4% 284 34.2% 1 0% possibly_damaging(0.915) tolerated(0.06) deleterious(0.689) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF584 201514 genome.wustl.edu 37 19 58928828 58928828 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173548.1 +1 provisional p.L315F 0.000 175 0% 207 24.2% 10 20% probably_damaging(0.97) tolerated(0.05) deleterious(0.758) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF132 7691 genome.wustl.edu 37 19 58944929 58944929 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003433.3 -1 validated p.E628K 0.002 183 0% 202 21.8% 0 - probably_damaging(0.974) tolerated(0.77) neutral(0.417) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF324B 388569 genome.wustl.edu 37 19 58966543 58966543 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000391696 +1 known p.R68C 0.015 149 0% 154 20.8% 0 - probably_damaging(0.99) - - NULL ZNF324B 388569 genome.wustl.edu 37 19 58967899 58967899 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207395.2 +1 validated p.R530C 0.002 58 0% 75 25.3% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TRIM28 10155 genome.wustl.edu 37 19 59060514 59060514 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005762.2 +1 reviewed p.E523 0.801 51 0% 56 19.6% 401 44.6% - - - NULL C20orf96 140680 genome.wustl.edu 37 20 258993 258993 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153269.1 -1 predicted p.E181D 0.449 122 0% 72 12.5% 15 40% probably_damaging(0.99) tolerated(0.1) deleterious(0.728) NULL CSNK2A1 1457 genome.wustl.edu 37 20 485767 485767 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001895.3 -1 reviewed p.L70I 1.000 63 0% 46 30.4% 38 44.7% possibly_damaging(0.929) deleterious(0.02) deleterious(0.759) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SLC52A3 113278 genome.wustl.edu 37 20 744162 744162 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033409.3 -1 validated p.V351 0.968 38 0% 28 35.7% 7 0% - - - HMMPfam_DUF1011 SIRPB2 284759 genome.wustl.edu 37 20 1460374 1460374 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122962.1 -1 validated p.S141L 0.000 308 0% 343 35.9% 0 - benign(0) tolerated(0.78) neutral(0.001) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIRPB1 10326 genome.wustl.edu 37 20 1546801 1546801 + Nonstop_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006065.3 -1 reviewed p.*399W 0.261 19 0% 19 36.8% 0 - - - - NULL SIRPG 55423 genome.wustl.edu 37 20 1629760 1629760 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018556.3 -1 reviewed p.R123Q 0.146 177 0% 208 40.4% 2 0% benign(0.154) tolerated(0.9) neutral(0.013) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin TGM3 7053 genome.wustl.edu 37 20 2291017 2291017 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003245.3 +1 reviewed p.S125 0.000 331 0% 276 30.4% 0 - - - - superfamily_E set domains ZNF343 79175 genome.wustl.edu 37 20 2473384 2473384 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024325.4 -1 validated p.E89* 0.113 253 0% 228 13.2% 2 50% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) PTPRA 5786 genome.wustl.edu 37 20 2998526 2998526 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002836.3 +1 reviewed p.I336 0.955 93 0% 67 40.3% 32 34.3% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 ENSG00000250798 0 genome.wustl.edu 37 20 3127235 3127235 + RNA SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000502279 +1 novel NULL 0.000 52 0% 62 32.3% 4 50% - - - - FASTKD5 60493 genome.wustl.edu 37 20 3128745 3128745 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021826.4 -1 validated p.G324 0.025 136 0% 173 30.6% 6 50% - - - NULL ATRN 8455 genome.wustl.edu 37 20 3520891 3520891 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_139321.2 +1 reviewed p.R173C 1.000 655 0.2% 579 32% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SIGLEC1 6614 genome.wustl.edu 37 20 3686998 3686998 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_023068.3 -1 reviewed p.V135 0.966 39 0% 30 13.3% 2 50% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MAVS 57506 genome.wustl.edu 37 20 3842924 3842924 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000416600 +1 known p.R105H 0.000 50 0% 62 32.3% 10 50% benign(0.014) tolerated(0.66) neutral(0.003) NULL PANK2 80025 genome.wustl.edu 37 20 3899406 3899406 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153638.2 +1 reviewed p.S542F 1.000 486 0% 396 29.8% 32 53.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fumble,superfamily_Actin-like ATPase domain PRND 23627 genome.wustl.edu 37 20 4705387 4705387 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012409.2 +1 reviewed p.R64C 0.544 45 0% 52 21.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Prion,superfamily_Prion-like PRNT 149830 genome.wustl.edu 37 20 4713300 4713300 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000326539 -1 known p.F8C 0.002 62 0% 48 33.3% 0 - possibly_damaging(0.649) deleterious(0) deleterious(0.672) NULL SLC23A2 9962 genome.wustl.edu 37 20 4893568 4893568 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005116.5 -1 reviewed p.E55 1.000 133 0% 66 33.3% 2 0% - - - NULL PROKR2 128674 genome.wustl.edu 37 20 5294790 5294790 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144773.2 -1 reviewed p.A76T 0.991 122 0% 79 26.6% 0 - benign(0.001) tolerated(0.47) neutral(0.011) HMMPfam_7tm_1,superfamily_SSF81321 FERMT1 55612 genome.wustl.edu 37 20 6057985 6057985 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017671.4 -1 reviewed p.I623 0.945 64 0% 56 44.6% 11 36.3% - - - NULL PLCB1 23236 genome.wustl.edu 37 20 8689378 8689378 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015192.2 +1 reviewed p.S410L 1.000 229 0% 223 30% 4 50% possibly_damaging(0.804) deleterious(0) deleterious(0.747) HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases PLCB4 5332 genome.wustl.edu 37 20 9402041 9402041 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000933.3 +1 reviewed p.R739Q 1.000 107 0% 100 37% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB PLCB4 5332 genome.wustl.edu 37 20 9417795 9417795 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000933.3 +1 reviewed p.K908N 1.000 46 0% 47 27.7% 1 0% benign(0.097) tolerated(0.47) neutral(0.018) NULL PAK7 57144 genome.wustl.edu 37 20 9538371 9538371 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020341.3 -1 reviewed p.E543* 1.000 165 0% 162 35.8% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ANKRD5 63926 genome.wustl.edu 37 20 10030294 10030294 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022096.4 +1 validated p.F359 0.413 128 0% 116 32.8% 4 50% - - - superfamily_Ankyrin repeat,superfamily_EF-hand SNAP25 6616 genome.wustl.edu 37 20 10280034 10280034 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003081.2 +1 reviewed p.R176C 1.000 158 0% 156 31.4% 0 - possibly_damaging(0.836) deleterious(0.01) deleterious(0.725) HMMPfam_SNARE,HMMSmart_SM00397 MKKS 8195 genome.wustl.edu 37 20 10393555 10393555 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018848.2 -1 reviewed p.P203H 0.981 157 0% 134 28.4% 19 63.1% possibly_damaging(0.793) tolerated(0.57) neutral(0.304) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like BTBD3 22903 genome.wustl.edu 37 20 11900456 11900456 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014962.2 +1 validated p.E170K 1.000 126 0% 82 29.3% 22 40.9% possibly_damaging(0.858) deleterious(0.01) deleterious(0.737) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB BTBD3 22903 genome.wustl.edu 37 20 11903589 11903589 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014962.2 +1 validated p.E282* 1.000 172 0% 142 27.5% 14 42.8% - - - NULL SPTLC3 55304 genome.wustl.edu 37 20 13140729 13140729 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018327.2 +1 validated p.R499W 0.929 117 0% 85 36.5% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ISM1 140862 genome.wustl.edu 37 20 13260508 13260508 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080826.1 +1 validated p.G202 1.000 57 0% 63 31.7% 1 0% - - - NULL FLRT3 23767 genome.wustl.edu 37 20 14307036 14307036 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013281.2 -1 reviewed p.T373P 1.000 212 0% 234 27.4% 3 100% possibly_damaging(0.687) tolerated(0.07) deleterious(0.565) NULL MACROD2 140733 genome.wustl.edu 37 20 15210605 15210605 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080676.5 +1 validated p.G146 0.204 118 0% 88 13.6% 0 - - - - HMMPfam_Macro,HMMSmart_A1pp,superfamily_SSF52949 KIF16B 55614 genome.wustl.edu 37 20 16352354 16352354 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024704.3 -1 validated p.R1135C 0.201 136 0% 113 35.4% 1 0% benign(0.154) deleterious(0.02) neutral(0.397) NULL KIF16B 55614 genome.wustl.edu 37 20 16359971 16359971 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024704.3 -1 validated p.F892 0.001 403 0% 483 32.1% 0 - - - - NULL KIF16B 55614 genome.wustl.edu 37 20 16360032 16360032 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024704.3 -1 validated p.S872Y 0.000 470 0% 597 33.2% 0 - possibly_damaging(0.68) tolerated(0.42) neutral(0.257) NULL KIF16B 55614 genome.wustl.edu 37 20 16474989 16474989 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024704.3 -1 validated p.E417K 1.000 139 0% 73 23.3% 0 - unknown(0) tolerated(0.32) - NULL KIF16B 55614 genome.wustl.edu 37 20 16506812 16506812 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024704.3 -1 validated p.R52 0.994 359 0% 292 26.7% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases RRBP1 6238 genome.wustl.edu 37 20 17639257 17639257 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042576.1 -1 reviewed p.K202N 1.000 134 0% 149 30.9% 100 33% possibly_damaging(0.44) deleterious(0.02) deleterious(0.526) NULL DZANK1 55184 genome.wustl.edu 37 20 18393497 18393497 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000377630 -1 known p.P242S 0.404 175 0% 186 34.9% 0 - benign(0.139) tolerated(0.62) neutral(0.016) NULL SEC23B 10483 genome.wustl.edu 37 20 18523695 18523695 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006363.4 +1 reviewed p.I515T 1.000 178 0% 125 28.8% 80 46.2% possibly_damaging(0.596) deleterious(0) deleterious(0.650) superfamily_SSF81995 SLC24A3 57419 genome.wustl.edu 37 20 19261725 19261725 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020689.3 +1 validated p.E89K 0.353 98 0% 71 26.8% 2 0% benign(0.001) tolerated(0.43) neutral(0.013) NULL NAA20 51126 genome.wustl.edu 37 20 20006351 20006351 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016100.3 +1 validated p.A37T 1.000 410 0% 280 33.6% 75 52% benign(0.009) tolerated(0.3) neutral(0.029) superfamily_Acyl-CoA N-acyltransferases (Nat) C20orf26 26074 genome.wustl.edu 37 20 20209006 20209006 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000431753 +1 known p.R222K 1.000 231 0% 183 28.4% 0 - - - - NULL C20orf26 26074 genome.wustl.edu 37 20 20232258 20232258 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015585.3 +1 validated p.D727N 1.000 136 0% 137 26.3% 0 - possibly_damaging(0.799) tolerated(0.64) neutral(0.304) superfamily_FAD/NAD(P)-binding domain RALGAPA2 57186 genome.wustl.edu 37 20 20373781 20373781 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000334388 -1 known p.R1750C 0.000 21 0% 18 38.9% 7 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RALGAPA2 57186 genome.wustl.edu 37 20 20493273 20493273 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000430436 -1 known p.S1397L 0.000 129 0% 97 20.6% 5 0% - - - superfamily_Rap/Ran-GAP (Pfam 02145) RALGAPA2 57186 genome.wustl.edu 37 20 20493523 20493523 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000430436 -1 known p.R1314* 0.119 182 0% 177 35% 4 75% benign(0.046) tolerated(0.13) neutral(0.255) NULL RALGAPA2 57186 genome.wustl.edu 37 20 20553675 20553675 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000430436 -1 known p.S732L 0.936 33 0% 25 32% 0 - - - - NULL RALGAPA2 57186 genome.wustl.edu 37 20 20601239 20601239 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000430436 -1 known p.Q240R 1.000 92 0% 101 27.7% 2 50% - - - NULL XRN2 22803 genome.wustl.edu 37 20 21312980 21312980 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012255.3 +1 reviewed p.E254* 1.000 97 0% 83 26.5% 11 0% - - - HMMPfam_XRN_N PAX1 5075 genome.wustl.edu 37 20 21687454 21687454 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006192.3 +1 validated p.R222H 1.000 25 0% 21 19% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_PAX,HMMSmart_SM00351 CD93 22918 genome.wustl.edu 37 20 23065114 23065114 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012072.3 -1 reviewed p.N572 0.000 80 0% 44 31.8% 6 0% - - - NULL CD93 22918 genome.wustl.edu 37 20 23066201 23066201 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012072.3 -1 reviewed p.S210F 0.887 47 0% 39 28.2% 5 0% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL CSTL1 128817 genome.wustl.edu 37 20 23421109 23421109 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138283.1 +1 reviewed p.R69* 0.013 337 0% 232 34.9% 0 - - - - HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 CST9L 128821 genome.wustl.edu 37 20 23546648 23546648 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080610.2 -1 reviewed p.D106G 0.335 293 0% 165 30.9% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Cystatin,superfamily_Cystatin/monellin CST2 1470 genome.wustl.edu 37 20 23805937 23805937 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001322.2 -1 reviewed p.F84L 0.000 154 0% 124 21.8% 7 0% probably_damaging(0.997) tolerated(0.4) deleterious(0.482) HMMPfam_Cystatin,HMMSmart_CY,PatternScan_CYSTATIN,superfamily_SSF54403 CST5 1473 genome.wustl.edu 37 20 23856862 23856862 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001900.4 -1 reviewed p.K131T 0.000 133 0% 116 22.4% 0 - benign(0) tolerated(0.62) neutral(0.004) HMMSmart_CY,superfamily_SSF54403 C20orf3 57136 genome.wustl.edu 37 20 24954335 24954335 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020531.2 -1 validated p.K123Q 1.000 109 0.9% 120 31.7% 83 51.8% probably_damaging(0.966) tolerated(0.06) deleterious(0.730) superfamily_Calcium-dependent phosphotriesterase ACSS1 84532 genome.wustl.edu 37 20 24988532 24988532 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032501.2 -1 reviewed p.R646W 1.000 87 0% 64 21.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Acetyl-CoA synthetase-like ENTPD6 955 genome.wustl.edu 37 20 25201886 25201886 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001247.2 +1 reviewed p.L321S 0.996 25 0% 22 22.7% 27 25.9% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_GDA1_CD39 GINS1 9837 genome.wustl.edu 37 20 25405956 25405956 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021067.3 +1 validated p.Y147S 1.000 206 0% 168 29.2% 4 75% probably_damaging(0.969) deleterious(0.01) deleterious(0.817) HMMPfam_Psf1 NINL 22981 genome.wustl.edu 37 20 25434140 25434140 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025176.4 -1 validated p.R1366C 0.000 200 0% 143 27.3% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL NINL 22981 genome.wustl.edu 37 20 25459651 25459651 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000336104 -1 known p.P5S 0.001 27 0% 34 47.1% 0 - - - - NULL NINL 22981 genome.wustl.edu 37 20 25459711 25459711 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025176.4 -1 validated p.H683 0.000 39 0% 24 37.5% 0 - - - - NULL NINL 22981 genome.wustl.edu 37 20 25507072 25507072 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025176.4 -1 validated p.T51M 0.961 219 0% 189 30.7% 2 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_SSF47473 DEFB119 245932 genome.wustl.edu 37 20 29965114 29965114 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153289.2 -1 validated p.S64R 0.199 353 0% 355 31.5% 0 - possibly_damaging(0.722) deleterious(0.02) deleterious(0.645) NULL REM1 28954 genome.wustl.edu 37 20 30064324 30064324 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014012.4 +1 reviewed p.R26W 0.000 127 0% 103 40.8% 4 0% possibly_damaging(0.95) tolerated(0.07) deleterious(0.713) NULL REM1 28954 genome.wustl.edu 37 20 30070155 30070155 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014012.4 +1 reviewed p.I163 1.000 37 0% 47 36.2% 0 - - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases TTLL9 164395 genome.wustl.edu 37 20 30530752 30530752 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000375922 +1 known p.R317C 0.000 323 0% 288 29.9% 1 100% benign(0.002) tolerated(0.05) neutral(0.345) HMMPfam_TTL HCK 3055 genome.wustl.edu 37 20 30689174 30689174 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002110.3 +1 reviewed p.R478H 0.504 56 0% 67 26.9% 34 0% probably_damaging(0.994) tolerated(0.14) deleterious(0.702) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) POFUT1 23509 genome.wustl.edu 37 20 30816070 30816070 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015352.1 +1 reviewed p.S183A 1.000 60 0% 56 37.5% 21 38% benign(0.027) deleterious(0.01) neutral(0.407) HMMPfam_O-FucT KIF3B 9371 genome.wustl.edu 37 20 30918113 30918113 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004798.2 +1 reviewed p.S713C 1.000 62 0% 101 15.8% 3 0% benign(0.165) tolerated(0.05) neutral(0.360) NULL ASXL1 171023 genome.wustl.edu 37 20 31021424 31021424 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015338.5 +1 reviewed p.D475N 0.000 192 0% 152 31.6% 5 60% benign(0) tolerated(0.26) neutral(0.034) NULL ASXL1 171023 genome.wustl.edu 37 20 31023108 31023108 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015338.5 +1 reviewed p.E865K 0.000 298 0% 203 31% 7 28.5% benign(0) tolerated(0.15) neutral(0.241) NULL COMMD7 149951 genome.wustl.edu 37 20 31294409 31294409 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053041.2 -1 validated p.E104D 1.000 152 0% 189 29.6% 67 40.2% probably_damaging(0.987) tolerated(0.38) neutral(0.454) HMMPfam_HCaRG DNMT3B 1789 genome.wustl.edu 37 20 31375143 31375143 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006892.3 +1 reviewed p.T180 0.001 81 0% 79 27.8% 4 25% - - - NULL SUN5 140732 genome.wustl.edu 37 20 31583471 31583471 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080675.3 -1 validated p.N163S 0.581 223 0% 240 23.7% 0 - benign(0.01) tolerated(0.17) neutral(0.059) NULL SUN5 140732 genome.wustl.edu 37 20 31590715 31590715 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080675.3 -1 validated p.R30* 0.008 49 0% 33 27.3% 0 - - - - NULL BPIFB6 128859 genome.wustl.edu 37 20 31627288 31627288 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174897.2 +1 validated p.R346W 0.000 156 0% 178 25.3% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom BPIFB6 128859 genome.wustl.edu 37 20 31629805 31629805 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174897.2 +1 validated p.S391L 0.036 55 0% 63 27% 0 - probably_damaging(0.998) tolerated(0.17) deleterious(0.533) HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom BPIFB4 149954 genome.wustl.edu 37 20 31671497 31671497 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182519.2 +1 validated p.A165V 0.913 49 0% 57 40.4% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL BPIFB4 149954 genome.wustl.edu 37 20 31676787 31676787 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000445356 +1 known p.S41L 0.846 350 0% 231 26.4% 0 - unknown(0) - - NULL BPIFA3 128861 genome.wustl.edu 37 20 31814273 31814273 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178466.3 +1 validated p.L200I 0.779 80 0% 87 31% 0 - benign(0.001) tolerated(0.76) neutral(0.001) HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI E2F1 1869 genome.wustl.edu 37 20 32267703 32267703 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005225.2 -1 reviewed p.S144R 1.000 67 0% 75 36% 31 51.6% probably_damaging(0.996) tolerated(0.17) deleterious(0.520) HMMPfam_E2F_TDP,superfamily_SSF46785 ZNF341 84905 genome.wustl.edu 37 20 32377368 32377368 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032819.3 +1 validated p.L663R 1.000 32 0% 24 37.5% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 EDEM2 55741 genome.wustl.edu 37 20 33725697 33725697 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018217.2 -1 validated p.R159Q 1.000 146 0% 122 29.5% 27 37% benign(0.112) tolerated(0.6) neutral(0.013) HMMPfam_Glyco_hydro_47,superfamily_Seven-hairpin glycosidases SPAG4 6676 genome.wustl.edu 37 20 34208665 34208665 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003116.1 +1 reviewed p.E379D 1.000 161 0% 115 10.4% 16 6.2% benign(0.066) tolerated(0.84) neutral(0.005) HMMPfam_Sad1_UNC RBM12 10137 genome.wustl.edu 37 20 34240708 34240708 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006047.4 -1 reviewed p.F846S 1.000 109 0% 98 28.6% 54 35.1% unknown(0) tolerated(0.1) - superfamily_RNA-binding domain RBD RBM12 10137 genome.wustl.edu 37 20 34242500 34242500 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006047.4 -1 reviewed p.P249S 1.000 84 0% 112 31.2% 28 21.4% unknown(0) deleterious(0) - NULL ROMO1 140823 genome.wustl.edu 37 20 34288760 34288760 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080748.2 +1 validated p.K58E 1.000 120 0% 72 34.7% 327 41.8% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_Mit_gmP TGIF2 60436 genome.wustl.edu 37 20 35219315 35219315 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021809.5 +1 reviewed p.I65M 0.997 244 0% 186 25.3% 15 20% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like SLA2 84174 genome.wustl.edu 37 20 35242319 35242319 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032214.2 -1 reviewed p.S246R 0.998 70 0% 69 33.3% 1 0% possibly_damaging(0.736) deleterious(0.02) deleterious(0.652) NULL SOGA1 140710 genome.wustl.edu 37 20 35434312 35434312 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199181.2 -1 validated p.N717H 0.521 62 0% 53 41.5% 0 - probably_damaging(0.992) tolerated(0.06) deleterious(0.770) NULL KIAA1755 85449 genome.wustl.edu 37 20 36869944 36869944 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001029864.1 -1 predicted p.L197I 0.001 297 0% 265 29.4% 2 0% possibly_damaging(0.47) tolerated(0.07) deleterious(0.474) NULL RALGAPB 57148 genome.wustl.edu 37 20 37179811 37179811 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020336.2 +1 validated p.P1036H 1.000 278 0% 250 12% 7 14.2% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SLC32A1 140679 genome.wustl.edu 37 20 37356616 37356616 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080552.2 +1 reviewed p.K304N 1.000 59 0% 43 46.5% 0 - benign(0.081) tolerated(0.33) neutral(0.030) HMMPfam_Aa_trans DHX35 60625 genome.wustl.edu 37 20 37650523 37650523 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021931.2 +1 reviewed p.A513V 1.000 276 0% 239 29.7% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HA2,superfamily_P-loop containing nucleoside triphosphate hydrolases MAFB 9935 genome.wustl.edu 37 20 39317284 39317284 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005461.3 -1 reviewed p.S69 0.960 29 0% 24 33.3% 16 0% - - - NULL TOP1 7150 genome.wustl.edu 37 20 39690051 39690051 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003286.2 +1 reviewed p.D26Y 1.000 116 0% 99 24.2% 30 46.6% unknown(0) deleterious(0.01) - NULL TOP1 7150 genome.wustl.edu 37 20 39713125 39713125 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003286.2 +1 reviewed p.K177N 1.000 52 0% 40 40% 36 44.4% benign(0.017) tolerated(0.27) neutral(0.034) NULL PLCG1 5335 genome.wustl.edu 37 20 39802358 39802358 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002660.2 +1 reviewed p.F1154C 1.000 279 0% 189 37% 24 20.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB ZHX3 23051 genome.wustl.edu 37 20 39833310 39833310 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015035.3 -1 reviewed p.D83N 0.990 196 0% 176 26.7% 4 75% benign(0.004) tolerated(1) - HMMSmart_ZnF_C2H2 LPIN3 64900 genome.wustl.edu 37 20 39980721 39980721 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022896.1 +1 validated p.R408 0.001 127 0% 83 38.6% 1 0% - - - NULL CHD6 84181 genome.wustl.edu 37 20 40162038 40162038 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032221.3 -1 reviewed p.A69T 0.020 192 0% 188 31.9% 0 - benign(0.022) tolerated(0.08) neutral(0.301) NULL PTPRT 11122 genome.wustl.edu 37 20 41306567 41306567 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133170.3 -1 reviewed p.R364 0.970 135 0.7% 99 22.2% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRT 11122 genome.wustl.edu 37 20 41408895 41408895 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133170.3 -1 reviewed p.I177 1.000 223 0% 194 32.5% 0 - - - - HMMPfam_MAM,HMMSmart_SM00137 L3MBTL1 26013 genome.wustl.edu 37 20 42157319 42157319 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015478.5 +1 reviewed p.C205* 0.644 67 0% 68 11.8% 0 - - - - superfamily_Tudor/PWWP/MBT IFT52 51098 genome.wustl.edu 37 20 42225099 42225099 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016004.2 +1 validated p.E48D 1.000 140 0% 119 22.7% 11 27.2% benign(0.141) tolerated(0.64) neutral(0.015) NULL MYBL2 4605 genome.wustl.edu 37 20 42343898 42343898 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002466.2 +1 reviewed p.R650Q 0.004 271 0% 213 32.9% 110 55.4% benign(0.374) tolerated(0.43) neutral(0.133) NULL TOX2 84969 genome.wustl.edu 37 20 42683124 42683124 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000372992 +1 known p.S45L 0.073 130 0% 61 37.7% 2 0% unknown(0) - - NULL C20orf111 51526 genome.wustl.edu 37 20 42825932 42825932 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016470.6 -1 provisional p.E213D 0.996 151 0% 138 25.4% 43 46.5% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) NULL GDAP1L1 78997 genome.wustl.edu 37 20 42893090 42893090 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024034.3 +1 reviewed p.K217N 1.000 56 0% 57 31.6% 0 - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) superfamily_Glutathione S-transferase (GST) C-terminal domain HNF4A 3172 genome.wustl.edu 37 20 43034863 43034863 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000457.3 +1 reviewed p.Y94C 1.000 145 0.7% 138 29.7% 11 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) HNF4A 3172 genome.wustl.edu 37 20 43048506 43048506 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000457.3 +1 reviewed p.F294L 1.000 104 0% 91 30.8% 9 0% probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain TTPAL 79183 genome.wustl.edu 37 20 43108805 43108805 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039199.1 +1 validated p.R56* 0.998 88 0% 72 34.7% 4 25% - - - HMMPfam_CRAL_TRIO_N,superfamily_Sec14p_like_N STK4 6789 genome.wustl.edu 37 20 43625831 43625831 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006282.2 +1 reviewed p.N239H 1.000 347 0% 232 37.1% 6 16.6% benign(0.221) deleterious(0.04) neutral(0.371) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KCNS1 3787 genome.wustl.edu 37 20 43723662 43723662 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002251.3 -1 reviewed p.S477I 0.993 191 0% 109 36.7% 0 - probably_damaging(0.983) tolerated(0.2) deleterious(0.478) NULL SEMG2 6407 genome.wustl.edu 37 20 43850992 43850992 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003008.2 +1 reviewed p.P240H 0.000 381 0.3% 311 29.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Semenogelin MATN4 8785 genome.wustl.edu 37 20 43927205 43927205 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003833.3 -1 reviewed p.V344A 1.000 49 0% 47 34% 0 - possibly_damaging(0.936) tolerated(0.15) deleterious(0.623) HMMSmart_VWA,superfamily_SSF53300,superfamily_SSF57196 RBPJL 11317 genome.wustl.edu 37 20 43942152 43942152 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014276.2 +1 reviewed p.R222C 1.000 95 0% 75 36% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Beta-trefoil,superfamily_Beta-trefoil WFDC8 90199 genome.wustl.edu 37 20 44184400 44184400 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130896.2 -1 reviewed p.E129K 0.000 272 0.4% 212 29.2% 0 - benign(0) tolerated(0.76) neutral(0.001) HMMPfam_Kunitz_BPTI,HMMSmart_KU,PatternScan_BPTI_KUNITZ_1,superfamily_Prot_inh_Kunz-m CTSA 5476 genome.wustl.edu 37 20 44520657 44520657 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000308.2 +1 reviewed p.G117 0.997 37 0% 27 14.8% 150 31.3% - - - HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases CTSA 5476 genome.wustl.edu 37 20 44521091 44521091 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000308.2 +1 reviewed p.D156N 0.000 61 0% 55 27.3% 160 30% benign(0.099) tolerated(0.3) neutral(0.036) HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases MMP9 4318 genome.wustl.edu 37 20 44642392 44642392 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004994.2 +1 reviewed p.S569 0.031 37 0% 25 24% 385 0% - - - superfamily_Hemopexin-like domain,PatternScan_HEMOPEXIN,HMMPfam_Hemopexin,HMMSmart_SM00120 SLC12A5 57468 genome.wustl.edu 37 20 44672541 44672541 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001134771.1 +1 reviewed p.A478T 1.000 147 0% 143 26.6% 0 - benign(0.422) deleterious(0) deleterious(0.582) HMMPfam_AA_permease CD40 958 genome.wustl.edu 37 20 44757495 44757495 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000372278 +1 known p.G167S 0.000 35 0% 26 30.8% 0 - unknown(0) - - NULL ELMO2 63916 genome.wustl.edu 37 20 44997547 44997547 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133171.3 -1 reviewed p.A649T 1.000 174 0% 165 29.1% 23 43.4% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_PH domain-like ZNF334 55713 genome.wustl.edu 37 20 45129935 45129935 + Nonstop_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018102.3 -1 validated p.*681Y 0.044 182 0% 166 31.3% 0 - - - - NULL ZNF334 55713 genome.wustl.edu 37 20 45130065 45130065 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018102.3 -1 validated p.R638H 0.000 218 0% 202 36.1% 0 - probably_damaging(0.987) tolerated(0.17) deleterious(0.495) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NCOA3 8202 genome.wustl.edu 37 20 46267800 46267800 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181659.2 +1 reviewed p.R854Q 1.000 311 0% 265 27.5% 3 33.3% probably_damaging(1) tolerated(0.3) deleterious(0.528) NULL NCOA3 8202 genome.wustl.edu 37 20 46281219 46281219 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181659.2 +1 reviewed p.R1339I 1.000 130 0% 141 12.1% 10 40% benign(0.007) deleterious(0.02) neutral(0.383) HMMPfam_DUF1518 PREX1 57580 genome.wustl.edu 37 20 47266704 47266704 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020820.3 -1 reviewed p.K953T 1.000 51 0% 42 26.2% 5 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL PREX1 57580 genome.wustl.edu 37 20 47274736 47274736 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020820.3 -1 reviewed p.D638Y 0.998 136 0% 112 39.3% 1 0% probably_damaging(0.985) deleterious(0.02) deleterious(0.815) "HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_""Winged helix"" DNA-binding domain" PREX1 57580 genome.wustl.edu 37 20 47276498 47276498 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020820.3 -1 reviewed p.D614N 1.000 180 0% 158 33.5% 3 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) "superfamily_PDZ domain-like,superfamily_""Winged helix"" DNA-binding domain" ARFGEF2 10564 genome.wustl.edu 37 20 47601346 47601346 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006420.2 +1 reviewed p.Q680R 1.000 219 0.5% 194 35.1% 0 - benign(0.026) tolerated(0.99) neutral(0.001) HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,superfamily_ARM-type_fold ARFGEF2 10564 genome.wustl.edu 37 20 47649603 47649603 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006420.2 +1 reviewed p.I1742S 1.000 40 0% 48 31.2% 13 53.8% benign(0.045) tolerated(0.09) neutral(0.299) NULL CSE1L 1434 genome.wustl.edu 37 20 47707504 47707504 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001316.2 +1 reviewed p.I770 1.000 161 0% 100 23% 117 43.5% - - - HMMPfam_CAS_CSE1,superfamily_ARM repeat LOC100131544 100131544 genome.wustl.edu 37 20 47855483 47855483 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001716051.1 -1 model p.Q182K 0.000 42 0% 64 28.1% 0 - unknown(0) - - NULL DDX27 55661 genome.wustl.edu 37 20 47859141 47859141 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017895.7 +1 reviewed p.Q740 0.219 394 0.3% 401 24.7% 42 28.5% - - - NULL ZNFX1 57169 genome.wustl.edu 37 20 47864311 47864311 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021035.2 -1 validated p.S1750 0.995 234 0% 144 29.2% 5 20% - - - NULL KCNB1 3745 genome.wustl.edu 37 20 47989645 47989645 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004975.2 -1 reviewed p.E818* 1.000 165 0% 141 12.8% 0 - - - - NULL KCNB1 3745 genome.wustl.edu 37 20 47990436 47990436 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004975.2 -1 reviewed p.S554N 0.998 234 0% 204 28.9% 0 - benign(0.003) tolerated(0.24) neutral(0.037) HMMPfam_Kv2channel SLC9A8 23315 genome.wustl.edu 37 20 48503378 48503378 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015266.1 +1 validated p.F527 0.971 47 0% 30 26.7% 6 16.6% - - - NULL PTPN1 5770 genome.wustl.edu 37 20 49197812 49197812 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002827.2 +1 reviewed p.D367Y 1.000 38 0% 33 33.3% 28 21.4% possibly_damaging(0.934) deleterious(0.01) deleterious(0.786) NULL FAM65C 140876 genome.wustl.edu 37 20 49218960 49218960 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080829.2 -1 predicted p.F432 0.000 57 0% 48 25% 0 - - - - NULL BCAS4 55653 genome.wustl.edu 37 20 49493049 49493049 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017843.3 +1 validated p.V205I 0.000 91 0% 67 37.3% 13 53.8% unknown(0) tolerated(0.32) - NULL NFATC2 4773 genome.wustl.edu 37 20 50007935 50007935 + Nonstop_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173091.2 -1 reviewed p.*926Q 1.000 231 0% 174 28.2% 3 0% - - - NULL NFATC2 4773 genome.wustl.edu 37 20 50051821 50051821 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173091.2 -1 reviewed p.R646W 1.000 298 0.3% 262 15.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains NFATC2 4773 genome.wustl.edu 37 20 50139752 50139752 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173091.2 -1 reviewed p.R343H 0.979 92 0% 110 45.5% 0 - probably_damaging(0.998) tolerated(0.12) deleterious(0.735) NULL ATP9A 10079 genome.wustl.edu 37 20 50292678 50292678 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006045.1 -1 validated p.R290Q 0.710 179 0% 202 23.8% 6 0% benign(0.239) tolerated(0.08) neutral(0.324) NULL SALL4 57167 genome.wustl.edu 37 20 50407730 50407730 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020436.3 -1 reviewed p.R431Q 1.000 67 0% 71 28.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF217 7764 genome.wustl.edu 37 20 52193292 52193292 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006526.2 -1 validated p.A671T 0.000 224 0% 239 24.7% 6 33.3% benign(0) tolerated(0.67) neutral(0.003) NULL CBLN4 140689 genome.wustl.edu 37 20 54573752 54573752 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080617.4 -1 reviewed p.V156G 1.000 273 0% 216 27.8% 0 - probably_damaging(1) tolerated(0.59) deleterious(0.504) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like FAM209A 200232 genome.wustl.edu 37 20 55100881 55100881 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012971.3 +1 validated p.R91* 0.005 222 0% 209 26.8% 0 - - - - NULL RAE1 8480 genome.wustl.edu 37 20 55948729 55948729 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001015885.1 +1 reviewed p.N254D 1.000 349 0% 355 25.4% 57 45.6% possibly_damaging(0.755) deleterious(0.05) deleterious(0.624) HMMSmart_SM00320,superfamily_WD40 repeat-like HMGB1P1 10357 genome.wustl.edu 37 20 56063451 56063452 + In_Frame_Ins INS - - TCA novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000452924 -1 known p.211in_frame_insD 1.000:1.000 - - - - - - - - - NULL CTCFL 140690 genome.wustl.edu 37 20 56098278 56098278 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080618.2 -1 reviewed p.L200 0.000 56 0% 43 25.6% 0 - - - - NULL PCK1 5105 genome.wustl.edu 37 20 56136617 56136617 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002591.3 +1 reviewed p.E50 1.000 84 0% 63 23.8% 1 0% - - - HMMPfam_PEPCK,superfamily_PEP_carboxykinase_N PCK1 5105 genome.wustl.edu 37 20 56138122 56138122 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002591.3 +1 reviewed p.T217A 1.000 54 0% 48 33.3% 0 - possibly_damaging(0.841) deleterious(0.03) deleterious(0.686) HMMPfam_PEPCK,superfamily_PEP_carboxykinase_N ZBP1 81030 genome.wustl.edu 37 20 56188259 56188259 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030776.2 -1 validated p.H210 0.000 92 0% 65 35.4% 0 - - - - NULL ZBP1 81030 genome.wustl.edu 37 20 56191336 56191336 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030776.2 -1 validated p.G75C 0.001 95 0% 72 45.8% 2 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL VAPB 9217 genome.wustl.edu 37 20 56993359 56993359 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004738.3 +1 reviewed p.R51G 0.936 141 0% 117 29.9% 18 27.7% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Motile_Sperm,superfamily_PapD-like GNAS 2778 genome.wustl.edu 37 20 57415482 57415482 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016592.2 +1 reviewed p.F107 0.865 35 0% 34 38.2% 0 - - - - HMMPfam_NESP55 GNAS 2778 genome.wustl.edu 37 20 57485443 57485443 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080425.2 +1 reviewed p.R985Q 1.000 101 0% 92 26.1% 2092 43.4% possibly_damaging(0.747) tolerated(0.4) neutral(0.290) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases PHACTR3 116154 genome.wustl.edu 37 20 58318216 58318216 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080672.3 +1 reviewed p.R58Q 0.984 84 0% 72 26.4% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL PHACTR3 116154 genome.wustl.edu 37 20 58416501 58416501 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080672.3 +1 reviewed p.R500* 1.000 89 0% 97 29.9% 0 - - - - HMMSmart_SM00707 SYCP2 10388 genome.wustl.edu 37 20 58456508 58456508 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014258.2 -1 reviewed p.D900N 0.977 27 0% 20 35% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL SYCP2 10388 genome.wustl.edu 37 20 58467167 58467167 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014258.2 -1 reviewed p.D748Y 0.998 295 0% 286 28.7% 0 - probably_damaging(0.999) tolerated(0.3) deleterious(0.519) NULL CDH26 60437 genome.wustl.edu 37 20 58547086 58547086 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177980.2 +1 reviewed p.P101T 0.998 180 0% 153 17.6% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CA,superfamily_Cadherin CDH26 60437 genome.wustl.edu 37 20 58562670 58562670 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_177980.2 +1 reviewed p.E334K 0.755 94 0% 94 40.4% 5 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin TAF4 6874 genome.wustl.edu 37 20 60575748 60575748 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003185.3 -1 reviewed p.S839L 0.992 99 0% 87 36.8% 7 28.5% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_TAF4 TCFL5 10732 genome.wustl.edu 37 20 61491491 61491491 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006602.2 -1 validated p.L273I 0.002 65 0% 78 28.2% 6 50% benign(0.019) tolerated(0.24) neutral(0.038) NULL DIDO1 11083 genome.wustl.edu 37 20 61538602 61538602 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033081.1 -1 reviewed p.A424V 0.992 203 0% 171 26.9% 31 48.3% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL KCNQ2 3785 genome.wustl.edu 37 20 62073804 62073804 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_172107.2 -1 reviewed p.E257 1.000 155 0% 129 27.9% 186 33.8% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels C20orf195 79025 genome.wustl.edu 37 20 62187763 62187763 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024059.2 +1 predicted p.P249 0.001 56 0% 57 22.8% 1 100% - - - superfamily_FN_III-like ARFRP1 10139 genome.wustl.edu 37 20 62337720 62337720 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003224.3 -1 reviewed p.L85 0.987 27 0% 23 17.4% 33 21.2% - - - HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases ARFRP1 10139 genome.wustl.edu 37 20 62338074 62338074 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003224.3 -1 reviewed p.S37L 1.000 23 0% 27 33.3% 24 45.8% benign(0) tolerated(0.98) - HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases MYT1 4661 genome.wustl.edu 37 20 62839225 62839225 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004535.2 +1 reviewed p.E226K 0.729 33 0% 32 28.1% 1 0% benign(0.244) tolerated(0.13) neutral(0.277) NULL TPTE 7179 genome.wustl.edu 37 21 10942760 10942760 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199261.2 -1 validated p.K227 0.999 974 0% 863 13.6% 0 - - - - superfamily_Voltage-gated potassium channels TPTE 7179 genome.wustl.edu 37 21 10942976 10942976 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_199261.2 -1 validated p.R204I 1.000 357 0% 306 14.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Voltage-gated potassium channels RBM11 54033 genome.wustl.edu 37 21 15599384 15599384 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144770.3 +1 validated p.L206F 0.981 389 0% 330 34.5% 0 - probably_damaging(0.991) tolerated(1) neutral(0.444) NULL HSPA13 6782 genome.wustl.edu 37 21 15746117 15746117 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006948.4 -1 reviewed p.R413W 0.956 179 0% 143 30.8% 15 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_HSP70,PatternScan_HSP70_3,superfamily_Actin-like ATPase domain HSPA13 6782 genome.wustl.edu 37 21 15746523 15746523 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006948.4 -1 reviewed p.F277 0.018 79 1.3% 76 32.9% 6 16.6% - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain SAMSN1 64092 genome.wustl.edu 37 21 15882719 15882719 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022136.3 -1 validated p.G158D 0.134 248 0% 274 24.1% 5 0% benign(0.025) tolerated(0.07) neutral(0.320) superfamily_SH3-domain USP25 29761 genome.wustl.edu 37 21 17203950 17203950 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013396.3 +1 validated e16+2 1.000 128 0% 105 30.5% 0 - - - - - C21orf91 54149 genome.wustl.edu 37 21 19169013 19169013 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001100420.1 -1 validated p.R184C 0.834 290 0% 252 32.9% 6 33.3% possibly_damaging(0.909) tolerated(0.19) neutral(0.411) HMMPfam_EURL TMPRSS15 5651 genome.wustl.edu 37 21 19651339 19651339 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002772.2 -1 reviewed p.Q902H 0.707 69 0% 49 28.6% 0 - probably_damaging(0.996) tolerated(0.23) deleterious(0.503) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TMPRSS15 5651 genome.wustl.edu 37 21 19775824 19775824 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002772.2 -1 reviewed p.S39F 0.993 269 0% 281 23.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL NCAM2 4685 genome.wustl.edu 37 21 22849623 22849623 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004540.2 +1 reviewed p.E636D 1.000 106 0% 86 22.1% 0 - possibly_damaging(0.753) tolerated(0.32) neutral(0.301) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like NCAM2 4685 genome.wustl.edu 37 21 22881273 22881273 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004540.2 +1 reviewed p.R727W 0.999 160 0% 140 31.4% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL MRPL39 54148 genome.wustl.edu 37 21 26978859 26978859 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080794.3 -1 reviewed p.R61Q 0.996 104 1% 94 27.7% 50 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL JAM2 58494 genome.wustl.edu 37 21 27074552 27074552 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021219.2 +1 reviewed p.R223H 1.000 55 0% 46 21.7% 3 0% benign(0.071) tolerated(0.13) neutral(0.258) superfamily_SSF48726 N6AMT1 29104 genome.wustl.edu 37 21 30255311 30255311 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013240.3 -1 reviewed p.Y73H 1.000 352 0% 264 29.5% 12 33.3% probably_damaging(0.966) deleterious(0.04) deleterious(0.757) HMMPfam_MTS,superfamily_S-adenosyl-L-methionine-dependent methyltransferases USP16 10600 genome.wustl.edu 37 21 30426135 30426135 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001032410.1 +1 reviewed p.E736* 1.000 339 0% 206 16% 29 0% - - - HMMPfam_UCH,superfamily_Cysteine proteinases BACH1 571 genome.wustl.edu 37 21 30698828 30698828 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001186.2 +1 reviewed p.R228I 1.000 417 0% 322 28.6% 4 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL BACH1 571 genome.wustl.edu 37 21 30698986 30698986 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001186.2 +1 reviewed p.E281K 0.714 350 0% 322 27% 1 100% benign(0.244) tolerated(0.17) neutral(0.083) NULL GRIK1 2897 genome.wustl.edu 37 21 30934110 30934110 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000830.3 -1 reviewed p.A731T 0.997 63 0% 61 34.4% 0 - possibly_damaging(0.578) deleterious(0.02) deleterious(0.582) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II CLDN17 26285 genome.wustl.edu 37 21 31538294 31538294 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012131.2 -1 reviewed p.T214 0.000 206 0% 138 25.4% 0 - - - - NULL CLDN17 26285 genome.wustl.edu 37 21 31538928 31538928 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012131.2 -1 reviewed p.F3C 1.000 159 0% 128 35.9% 0 - benign(0.002) deleterious(0.01) neutral(0.406) NULL KRTAP13-2 337959 genome.wustl.edu 37 21 31744460 31744460 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181621.3 -1 validated p.S24 0.118 398 0% 411 14.4% 0 - - - - HMMPfam_PMG KRTAP13-1 140258 genome.wustl.edu 37 21 31768574 31768574 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181599.2 +1 validated p.Q57P 0.004 138 0% 157 38.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PMG KRTAP13-1 140258 genome.wustl.edu 37 21 31768727 31768727 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181599.2 +1 validated p.R108H 0.002 130 0% 139 24.5% 0 - benign(0.005) tolerated(0.63) neutral(0.004) HMMPfam_PMG KRTAP15-1 254950 genome.wustl.edu 37 21 31812740 31812740 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181623.1 +1 provisional p.S32N 0.252 260 0% 203 31% 0 - possibly_damaging(0.85) tolerated(0.12) deleterious(0.588) HMMPfam_PMG KRTAP19-5 337972 genome.wustl.edu 37 21 31874332 31874332 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181611.1 -1 provisional p.G26D 0.998 330 0% 394 24.4% 0 - unknown(0) - - NULL KRTAP19-6 337973 genome.wustl.edu 37 21 31914087 31914087 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181612.2 -1 provisional p.G22 0.005 364 0% 324 33.6% 0 - - - - NULL KRTAP21-1 337977 genome.wustl.edu 37 21 32127679 32127679 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181619.1 -1 provisional p.Y6 0.130 426 0% 414 27.1% 0 - - - - NULL KRTAP11-1 337880 genome.wustl.edu 37 21 32253690 32253690 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175858.2 -1 validated p.L52F 1.000 121 0% 112 30.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PMG TIAM1 7074 genome.wustl.edu 37 21 32496950 32496950 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000423206 -1 known p.E54* 1.000 81 0% 65 24.6% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PH domain-like TIAM1 7074 genome.wustl.edu 37 21 32513671 32513671 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000399841 -1 known p.G1049R 0.000 73 0% 81 38.3% 1 0% benign(0.205) - - HMMSmart_SM00325 TIAM1 7074 genome.wustl.edu 37 21 32525453 32525453 + Splice_Site SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003253.2 -1 validated e15-1 1.000 214 0% 173 25.4% 0 - - - - - TIAM1 7074 genome.wustl.edu 37 21 32624490 32624490 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003253.2 -1 validated p.E327K 1.000 289 0% 140 30.7% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL TIAM1 7074 genome.wustl.edu 37 21 32638928 32638928 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003253.2 -1 validated p.A121T 1.000 82 0% 121 27.3% 0 - possibly_damaging(0.692) tolerated(0.09) deleterious(0.544) NULL SCAF4 57466 genome.wustl.edu 37 21 33043945 33043945 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020706.2 -1 reviewed p.E1071K 1.000 351 0% 307 27.4% 27 37% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL SCAF4 57466 genome.wustl.edu 37 21 33064723 33064723 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020706.2 -1 reviewed p.R518I 1.000 113 0% 75 28% 10 30% unknown(0) deleterious(0.02) - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD C21orf63 59271 genome.wustl.edu 37 21 33876299 33876299 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_058187.3 +1 validated p.S308F 0.829 160 0% 174 27.6% 7 42.8% probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL SYNJ1 8867 genome.wustl.edu 37 21 34018782 34018782 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003895.3 -1 validated p.I1056M 0.000 366 0.3% 299 25.8% 0 - benign(0) tolerated(0.16) neutral(0.059) NULL SYNJ1 8867 genome.wustl.edu 37 21 34029206 34029206 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003895.3 -1 validated p.V862 0.054 114 0% 111 39.6% 1 0% - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like SYNJ1 8867 genome.wustl.edu 37 21 34058062 34058062 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003895.3 -1 validated p.Q372K 0.998 166 0% 162 34.6% 1 0% benign(0) tolerated(0.32) neutral(0.024) NULL GCFC1 94104 genome.wustl.edu 37 21 34109696 34109696 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016631.3 -1 reviewed p.Q835H 1.000 226 0% 167 33.5% 4 100% probably_damaging(0.983) tolerated(0.13) deleterious(0.681) HMMPfam_GCFC GCFC1 94104 genome.wustl.edu 37 21 34127649 34127649 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016631.3 -1 reviewed p.E467* 1.000 200 0% 138 26.1% 4 0% - - - HMMPfam_GCFC C21orf62 56245 genome.wustl.edu 37 21 34166107 34166107 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000479548 -1 known p.S209I 0.459 158 0% 173 13.3% 0 - probably_damaging(0.96) deleterious(0.02) deleterious(0.786) NULL C21orf62 56245 genome.wustl.edu 37 21 34166515 34166515 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000479548 -1 known p.R73Q 0.000 159 0% 181 27.1% 0 - benign(0.224) tolerated(0.57) neutral(0.028) NULL IFNAR2 3455 genome.wustl.edu 37 21 34619145 34619145 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207585.1 +1 reviewed p.G115E 0.269 59 0% 72 30.6% 13 15.3% possibly_damaging(0.627) tolerated(0.53) neutral(0.226) superfamily_Fibronectin type III IFNAR2 3455 genome.wustl.edu 37 21 34635606 34635606 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207585.1 +1 reviewed p.S450L 0.000 480 0% 360 15.6% 2 0% possibly_damaging(0.646) tolerated(0.11) deleterious(0.498) NULL IFNAR1 3454 genome.wustl.edu 37 21 34707841 34707841 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000629.2 +1 reviewed p.L30I 0.000 108 0% 71 31% 8 62.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GART 2618 genome.wustl.edu 37 21 34876557 34876557 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000819.4 -1 reviewed p.V969 0.908 107 0% 126 34.9% 77 40.2% - - - HMMPfam_Formyl_trans_N,superfamily_Formyltransferase SON 6651 genome.wustl.edu 37 21 34922131 34922131 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138927.1 +1 reviewed p.E198 0.988 131 0% 96 16.7% 2 0% - - - NULL SON 6651 genome.wustl.edu 37 21 34926095 34926095 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138927.1 +1 reviewed p.K1520Q 1.000 47 0% 38 26.3% 17 29.4% probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL SON 6651 genome.wustl.edu 37 21 34926369 34926369 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138927.1 +1 reviewed p.G1611D 0.976 84 0% 122 59.8% 26 42.3% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL SON 6651 genome.wustl.edu 37 21 34927209 34927209 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138927.1 +1 reviewed p.R1891H 0.998 80 0% 68 30.9% 35 37.1% unknown(0) deleterious(0) - NULL ITSN1 6453 genome.wustl.edu 37 21 35093522 35093522 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003024.2 +1 reviewed p.A23V 1.000 199 0% 175 11.4% 5 0% unknown(0) tolerated(0.12) - HMMSmart_SM00027,superfamily_EF-hand ITSN1 6453 genome.wustl.edu 37 21 35195906 35195906 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003024.2 +1 reviewed p.G1044 1.000 183 0% 136 26.5% 7 0% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CLIC6 54102 genome.wustl.edu 37 21 36081069 36081069 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053277.1 +1 reviewed p.A561V 1.000 129 0% 120 31.7% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) superfamily_Glutathione S-transferase (GST) C-terminal domain SETD4 54093 genome.wustl.edu 37 21 37416218 37416218 + Missense_Mutation SNP C C T rs146928359 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017438.3 -1 validated p.E255K 1.000 111 0% 77 29.9% 16 43.7% possibly_damaging(0.827) deleterious(0.02) deleterious(0.697) HMMPfam_SET,superfamily_SET domain DOPEY2 9980 genome.wustl.edu 37 21 37586445 37586445 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005128.2 +1 validated p.S324L 0.261 130 1.5% 135 34.8% 1 100% benign(0.004) tolerated(0.05) neutral(0.345) NULL DOPEY2 9980 genome.wustl.edu 37 21 37617399 37617399 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005128.2 +1 validated p.A1041T 0.206 36 0% 34 35.3% 0 - benign(0.042) tolerated(0.13) neutral(0.255) NULL DOPEY2 9980 genome.wustl.edu 37 21 37617941 37617941 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005128.2 +1 validated p.V1221 0.000 46 0% 46 26.1% 5 40% - - - NULL MORC3 23515 genome.wustl.edu 37 21 37705952 37705952 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015358.2 +1 reviewed p.P16 0.998 161 0% 135 25.2% 2 0% - - - NULL MORC3 23515 genome.wustl.edu 37 21 37706008 37706008 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015358.2 +1 reviewed p.E35G 1.000 153 0% 122 28.7% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HATPase_c,superfamily_ATP_bd_ATPase DSCR3 10311 genome.wustl.edu 37 21 38600084 38600084 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000309117 -1 known p.D228N 1.000 33 0% 13 46.2% 24 20.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Vps26 DSCR4 10281 genome.wustl.edu 37 21 39493329 39493329 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000398948 -1 known p.T7 0.023 50 0% 46 13% 0 - - - - NULL KCNJ15 3772 genome.wustl.edu 37 21 39671657 39671657 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002243.3 +1 reviewed p.I158 1.000 162 0% 138 25.4% 1 0% - - - HMMPfam_IRK,superfamily_Ig_E-set,superfamily_SSF81324 ERG 2078 genome.wustl.edu 37 21 39774533 39774533 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136154.1 -1 validated p.D214Y 1.000 98 0% 80 36.2% 1 0% possibly_damaging(0.539) deleterious(0) deleterious(0.627) NULL ERG 2078 genome.wustl.edu 37 21 39817414 39817414 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136154.1 -1 validated p.R57H 0.752 54 0% 65 10.8% 1 0% probably_damaging(0.968) tolerated(0.32) neutral(0.434) NULL BRWD1 54014 genome.wustl.edu 37 21 40568921 40568921 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018963.3 -1 reviewed p.N2025S 0.000 240 0% 270 29.3% 2 50% benign(0) tolerated(0.6) neutral(0.004) superfamily_WD40 repeat-like BRWD1 54014 genome.wustl.edu 37 21 40569214 40569214 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018963.3 -1 reviewed p.I1927M 0.108 127 0% 126 22.2% 2 0% benign(0.152) deleterious(0.02) neutral(0.397) superfamily_WD40 repeat-like SH3BGR 6450 genome.wustl.edu 37 21 40834347 40834347 + Missense_Mutation SNP A A T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007341.2 +1 validated p.K94I 1.000 201 0% 147 23.8% 4 50% probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_SH3BGR,superfamily_Thiordxn-like_fd B3GALT5 10317 genome.wustl.edu 37 21 41032798 41032798 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006057.1 +1 reviewed p.A104 0.000 223 0% 260 34.2% 0 - - - - HMMPfam_Galactosyl_T DSCAM 1826 genome.wustl.edu 37 21 41414430 41414430 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001389.3 -1 validated p.N1852H 1.000 136 0% 90 33.3% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL DSCAM 1826 genome.wustl.edu 37 21 41427745 41427745 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001389.3 -1 validated p.T1648A 0.989 229 0% 180 35.6% 0 - benign(0.33) deleterious(0.01) deleterious(0.509) NULL DSCAM 1826 genome.wustl.edu 37 21 41465735 41465735 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001389.3 -1 validated p.R1255C 0.920 45 0% 65 33.8% 0 - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III BACE2 25825 genome.wustl.edu 37 21 42615305 42615305 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012105.3 +1 reviewed p.V250 0.995 124 0% 137 15.3% 12 0% - - - HMMPfam_Asp,superfamily_Acid proteases MX2 4600 genome.wustl.edu 37 21 42780140 42780140 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002463.1 +1 reviewed p.S710A 0.044 108 0% 122 37.7% 6 0% benign(0.036) tolerated(1) neutral(0.002) NULL ZNF295 49854 genome.wustl.edu 37 21 43411722 43411722 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098402.1 -1 validated p.S828F 0.000 144 0% 135 31.9% 2 0% benign(0) deleterious(0.02) neutral(0.383) NULL UMODL1 89766 genome.wustl.edu 37 21 43531740 43531740 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173568.3 +1 validated p.R803Q 0.000 40 0% 40 22.5% 0 - benign(0.009) tolerated(0.98) neutral(0.001) NULL UMODL1 89766 genome.wustl.edu 37 21 43536042 43536042 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173568.3 +1 validated p.R936C 0.000 96 0% 78 33.3% 0 - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_SEA UMODL1 89766 genome.wustl.edu 37 21 43546494 43546494 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173568.3 +1 validated p.D1191N 0.982 122 0% 126 32.5% 0 - possibly_damaging(0.537) tolerated(1) neutral(0.181) HMMPfam_Zona_pellucida,HMMSmart_SM00241 ABCG1 9619 genome.wustl.edu 37 21 43716442 43716442 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004915.3 +1 reviewed p.F659L 0.946 143 0% 85 27.1% 38 28.9% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL TMPRSS3 64699 genome.wustl.edu 37 21 43802210 43802210 + Missense_Mutation SNP C C T rs181949335 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024022.2 -1 reviewed p.A306T 1.000 96 0% 121 29.8% 29 51.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases RSPH1 89765 genome.wustl.edu 37 21 43913094 43913094 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080860.2 -1 validated p.F50 0.010 382 0% 448 34.4% 1 0% - - - HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain PKNOX1 5316 genome.wustl.edu 37 21 44427619 44427619 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004571.3 +1 validated p.L24 1.000 196 0% 192 32.8% 7 57.1% - - - NULL U2AF1 7307 genome.wustl.edu 37 21 44524486 44524486 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001025203.1 -1 reviewed p.I24T 1.000 79 0% 52 25% 194 40.7% benign(0.333) tolerated(0.29) neutral(0.134) HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 HSF2BP 11077 genome.wustl.edu 37 21 45050317 45050317 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007031.1 -1 reviewed p.F154V 1.000 179 0% 109 29.4% 4 0% possibly_damaging(0.633) tolerated(0.08) deleterious(0.521) superfamily_ARM repeat RRP1B 23076 genome.wustl.edu 37 21 45106712 45106712 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015056.2 +1 validated p.A346V 0.472 86 0% 78 11.5% 11 0% benign(0.132) tolerated(0.18) neutral(0.067) NULL TRAPPC10 7109 genome.wustl.edu 37 21 45483619 45483619 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003274.4 +1 reviewed p.A331T 1.000 124 0% 143 30.8% 4 25% benign(0.372) tolerated(0.49) neutral(0.129) NULL TRAPPC10 7109 genome.wustl.edu 37 21 45496479 45496479 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003274.4 +1 reviewed p.S449 0.005 118 0% 93 25.8% 0 - - - - NULL TRPM2 7226 genome.wustl.edu 37 21 45810910 45810910 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003307.3 +1 reviewed e10+2 0.996 53 0% 74 17.6% 0 - - - - - TRPM2 7226 genome.wustl.edu 37 21 45821664 45821664 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003307.3 +1 reviewed p.A808T 0.721 14 0% 27 33.3% 1 0% benign(0.003) deleterious(0.04) neutral(0.349) NULL LRRC3 81543 genome.wustl.edu 37 21 45876828 45876828 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030891.3 +1 validated p.E101K 1.000 26 0% 29 37.9% 0 - benign(0.113) tolerated(0.13) neutral(0.262) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 KRTAP10-1 386677 genome.wustl.edu 37 21 45959458 45959458 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198691.2 -1 reviewed p.V192 0.005 179 0% 229 16.2% 0 - - - - HMMPfam_Keratin_B2 TSPEAR 54084 genome.wustl.edu 37 21 45987772 45987772 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144991.2 -1 provisional p.R67H 0.067 96 0% 54 31.5% 0 - possibly_damaging(0.815) deleterious(0.03) deleterious(0.672) HMMSmart_SM00210 KRTAP10-6 386674 genome.wustl.edu 37 21 46012162 46012162 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198688.2 -1 validated p.C68 0.295 340 0% 360 35.3% 0 - - - - NULL ITGB2 3689 genome.wustl.edu 37 21 46320325 46320325 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000211.3 -1 reviewed p.F269 0.999 31 0% 16 31.2% 29 0% - - - HMMSmart_VWA,HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF53300 ITGB2 3689 genome.wustl.edu 37 21 46330268 46330268 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000211.3 -1 reviewed p.T26 0.998 22 0% 27 18.5% 12 0% unknown(0) - - HMMSmart_PSI ADARB1 104 genome.wustl.edu 37 21 46624512 46624512 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015833.3 +1 validated p.F576 1.000 149 0% 116 33.6% 0 - - - - HMMPfam_A_deamin,HMMSmart_SM00552 PCBP3 54039 genome.wustl.edu 37 21 47319533 47319533 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020528.2 +1 reviewed p.G62 0.975 33 0% 34 17.6% 0 - - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) PCNT 5116 genome.wustl.edu 37 21 47746338 47746338 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006031.5 +1 reviewed p.S34 1.000 51 0% 83 37.3% 1 0% - - - NULL PCNT 5116 genome.wustl.edu 37 21 47771348 47771348 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006031.5 +1 reviewed p.E450D 0.895 83 0% 67 31.3% 3 33.3% probably_damaging(0.971) tolerated(0.07) deleterious(0.732) NULL XKR3 150165 genome.wustl.edu 37 22 17265006 17265006 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_175878.3 -1 validated p.E295* 0.705 158 0% 181 32% 0 - - - - HMMPfam_XK-related CECR2 27443 genome.wustl.edu 37 22 18020332 18020332 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000400573 +1 known p.S554L 0.421 94 0% 75 29.3% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL CECR2 27443 genome.wustl.edu 37 22 18028573 18028573 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000400573 +1 known p.R1177Q 1.000 84 0% 95 27.4% 0 - possibly_damaging(0.657) deleterious(0) deleterious(0.676) NULL ATP6V1E1 529 genome.wustl.edu 37 22 18082836 18082836 + Missense_Mutation SNP C C T rs144829775 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001696.3 -1 reviewed p.R131Q 0.986 200 0% 164 31.7% 146 48.6% benign(0.002) tolerated(0.53) neutral(0.007) HMMPfam_vATP-synt_E MICAL3 57553 genome.wustl.edu 37 22 18301857 18301857 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015241.2 -1 provisional p.E1190D 0.000 10 0% 15 33.3% 2 100% benign(0.005) deleterious(0.02) neutral(0.383) NULL CLTCL1 8218 genome.wustl.edu 37 22 19226817 19226817 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007098.3 -1 reviewed p.D259G 1.000 302 0% 229 24.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Clathrin_propel,superfamily_Clathrin heavy-chain terminal domain CDC45 8318 genome.wustl.edu 37 22 19504063 19504063 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003504.3 +1 reviewed p.R485H 1.000 63 0% 26 38.5% 44 40.9% possibly_damaging(0.766) tolerated(0.08) deleterious(0.584) HMMPfam_CDC45 C22orf29 79680 genome.wustl.edu 37 22 19839077 19839077 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024627.5 -1 validated p.A236 0.000 80 0% 52 38.5% 6 33.3% - - - NULL PI4KA 5297 genome.wustl.edu 37 22 21097033 21097033 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_058004.2 -1 reviewed p.F1101C 1.000 124 0% 100 34% 4 0% benign(0.006) tolerated(0.1) neutral(0.286) NULL SERPIND1 3053 genome.wustl.edu 37 22 21133856 21133856 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000185.3 +1 reviewed p.F86V 0.024 112 0% 114 27.2% 0 - benign(0.028) deleterious(0.05) neutral(0.347) superfamily_Serpins,PatternScan_TONB_DEPENDENT_REC_1 CCDC116 164592 genome.wustl.edu 37 22 21988325 21988325 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152612.2 +1 provisional p.K29N 0.995 60 0% 70 31.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CCDC116 164592 genome.wustl.edu 37 22 21989345 21989345 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152612.2 +1 provisional p.D331 0.020 36 0% 44 40.9% 1 100% - - - NULL CCDC116 164592 genome.wustl.edu 37 22 21990805 21990805 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152612.2 +1 provisional p.R430C 0.013 39 0% 42 14.3% 0 - benign(0.001) deleterious(0.04) neutral(0.349) NULL IGLV1-50 28821 genome.wustl.edu 37 22 22682067 22682067 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390291 +1 known p.F83L 1.000 504 0% 369 31.2% 0 - possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV3-27 28791 genome.wustl.edu 37 22 23011131 23011131 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390304 +1 known p.V65A 0.013 80 0% 72 30.6% 2 0% benign(0.372) deleterious(0.01) deleterious(0.524) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV3-25 28793 genome.wustl.edu 37 22 23029638 23029638 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390305 +1 known p.F80L 1.000 197 0% 158 27.8% 211 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV3-1 28809 genome.wustl.edu 37 22 23223470 23223470 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000390319 +1 known p.F80L 0.999 103 0% 83 34.9% 42 0% benign(0.036) deleterious(0.01) neutral(0.408) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin RTDR1 27156 genome.wustl.edu 37 22 23401823 23401823 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014433.2 -1 reviewed p.A288 0.839 70 0% 74 25.7% 0 - - - - superfamily_ARM-type_fold LOC649264 649264 genome.wustl.edu 37 22 23715903 23715903 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001131286.2 -1 model p.A69V 1.000 10 0% 12 41.7% 0 - - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases IGLL1 3543 genome.wustl.edu 37 22 23915556 23915556 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020070.2 -1 reviewed p.S180N 0.819 265 0% 273 25.6% 0 - benign(0.009) tolerated(0.17) neutral(0.059) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 SPECC1L 23384 genome.wustl.edu 37 22 24718311 24718311 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145468.1 +1 validated p.K455Q 1.000 146 0% 121 33.9% 0 - probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL SPECC1L 23384 genome.wustl.edu 37 22 24726374 24726374 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145468.1 +1 validated p.E791* 1.000 230 0% 211 32.7% 3 0% - - - NULL FAM211B 388886 genome.wustl.edu 37 22 24982152 24982152 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_207644.2 -1 validated p.G217D 1.000 58 0% 50 34% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNI-like PIWIL3 440822 genome.wustl.edu 37 22 25145713 25145713 + Missense_Mutation SNP G G A rs187027471 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008496.2 -1 validated p.T388M 0.000 179 0% 152 17.1% 0 - possibly_damaging(0.931) tolerated(0.09) deleterious(0.674) HMMPfam_PAZ,superfamily_SSF101690 SGSM1 129049 genome.wustl.edu 37 22 25272641 25272641 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039948.2 +1 validated p.G518 1.000 185 0% 188 36.7% 0 - - - - NULL SGSM1 129049 genome.wustl.edu 37 22 25294017 25294017 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039948.2 +1 validated p.G756W 1.000 94 0% 90 30% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Ypt/Rab-GAP domain of gyp1p ADRBK2 157 genome.wustl.edu 37 22 26074794 26074794 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005160.3 +1 reviewed p.K220T 1.000 163 0.6% 137 25.5% 0 - benign(0.372) deleterious(0) deleterious(0.563) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase MYO18B 84700 genome.wustl.edu 37 22 26294398 26294398 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032608.5 +1 reviewed p.R1598Q 1.000 277 0% 259 30.9% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL MYO18B 84700 genome.wustl.edu 37 22 26400784 26400784 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032608.5 +1 reviewed p.R2145* 0.975 279 0.4% 223 22% 0 - - - - NULL MYO18B 84700 genome.wustl.edu 37 22 26423188 26423188 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032608.5 +1 reviewed p.E2416 0.072 221 0% 178 24.7% 2 0% - - - NULL CRYBA4 1413 genome.wustl.edu 37 22 27026309 27026309 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001886.2 +1 reviewed p.V150G 1.000 37 0% 47 23.4% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF CHEK2 11200 genome.wustl.edu 37 22 29106013 29106013 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005735.1 -1 reviewed p.I319S 1.000 99 0% 99 24.2% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CCDC117 150275 genome.wustl.edu 37 22 29182220 29182220 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173510.2 +1 validated p.R249I 0.962 134 0% 145 29% 10 50% possibly_damaging(0.923) deleterious(0) deleterious(0.817) NULL ZNRF3 84133 genome.wustl.edu 37 22 29383097 29383097 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032173.2 +1 validated p.E12K 0.996 177 0% 155 29% 3 66.6% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL RFPL1-AS1 10740 genome.wustl.edu 37 22 29833814 29833814 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NR_002727.2 -1 validated NULL 0.001 35 0% 52 19.2% 0 - - - - - NEFH 4744 genome.wustl.edu 37 22 29885034 29885034 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021076.3 +1 reviewed p.E469* 1.000 116 0% 120 31.7% 0 - - - - NULL THOC5 8563 genome.wustl.edu 37 22 29945057 29945057 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002877.1 -1 validated p.R27Q 0.915 94 0% 67 40.3% 6 83.3% possibly_damaging(0.77) deleterious(0.02) deleterious(0.669) NULL NF2 4771 genome.wustl.edu 37 22 30069387 30069387 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000268.3 +1 reviewed p.R418C 0.986 27 0% 26 23.1% 21 52.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ERM TBC1D10A 83874 genome.wustl.edu 37 22 30700583 30700583 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031937.1 -1 provisional p.R82S 1.000 139 0% 136 32.4% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ypt/Rab-GAP domain of gyp1p OSBP2 23762 genome.wustl.edu 37 22 31091370 31091370 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030758.3 +1 reviewed p.A158 0.033 38 0% 50 28% 1 0% - - - NULL RNF185 91445 genome.wustl.edu 37 22 31600506 31600506 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152267.3 +1 validated p.E171 0.984 128 0% 169 40.8% 8 50% - - - NULL DRG1 4733 genome.wustl.edu 37 22 31816248 31816248 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004147.3 +1 validated p.R140Q 1.000 149 0% 132 28% 80 40% possibly_damaging(0.59) deleterious(0.01) deleterious(0.610) HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases SFI1 9814 genome.wustl.edu 37 22 32009187 32009187 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007467.1 +1 validated p.F850 0.954 20 0% 12 50% 7 14.2% possibly_damaging(0.741) - - NULL SFI1 9814 genome.wustl.edu 37 22 32009832 32009832 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007467.1 +1 validated p.A996V 0.000 12 0% 11 36.4% 19 42.1% benign(0.031) tolerated(0.56) neutral(0.008) NULL ENSG00000251232 0 genome.wustl.edu 37 22 32015676 32015676 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000422296 -1 known p.S554L 0.091 51 0% 42 19% 18 44.4% - - - HMMPfam_PS_Dcarbxylase PRR14L 253143 genome.wustl.edu 37 22 32099640 32099640 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173566.2 -1 validated p.L1966F 0.986 87 0% 77 39% 3 66.6% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) NULL DEPDC5 9681 genome.wustl.edu 37 22 32198714 32198714 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014662.2 +1 validated p.R324H 1.000 226 0% 212 24.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DEPDC5 9681 genome.wustl.edu 37 22 32234731 32234731 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000433147 +1 known p.T203A 1.000 214 0% 203 30.5% 2 50% - - - NULL DEPDC5 9681 genome.wustl.edu 37 22 32242861 32242861 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014662.2 +1 validated p.I1012M 0.016 149 0% 160 26.9% 3 33.3% possibly_damaging(0.51) tolerated(0.15) neutral(0.412) NULL SLC5A1 6523 genome.wustl.edu 37 22 32500874 32500874 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000343.3 +1 reviewed p.E589D 0.999 129 0% 89 34.8% 2 0% benign(0.001) tolerated(0.46) neutral(0.012) NULL RFPL3 10738 genome.wustl.edu 37 22 32756308 32756308 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001098535.1 +1 validated p.R148Q 0.084 121 0% 151 29.8% 0 - probably_damaging(0.978) tolerated(0.4) neutral(0.436) HMMSmart_PRY BPIFC 254240 genome.wustl.edu 37 22 32831757 32831757 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174932.2 -1 validated p.F286L 1.000 102 0% 87 34.5% 0 - probably_damaging(0.953) tolerated(0.66) neutral(0.399) HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom TIMP3 7078 genome.wustl.edu 37 22 33254053 33254053 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000362.4 +1 reviewed p.E122D 1.000 142 0% 136 25% 54 0% benign(0.167) tolerated(0.49) neutral(0.026) HMMPfam_TIMP,HMMSmart_SM00206,superfamily_TIMP-like SYN3 8224 genome.wustl.edu 37 22 33260971 33260971 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003490.3 -1 reviewed p.I214 1.000 357 0% 277 33.2% 0 - - - - HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like HMGXB4 10042 genome.wustl.edu 37 22 35660647 35660647 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003681.2 +1 validated p.S89L 1.000 257 0% 227 26.4% 5 20% possibly_damaging(0.915) deleterious(0.04) deleterious(0.716) NULL HMGXB4 10042 genome.wustl.edu 37 22 35661034 35661034 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003681.2 +1 validated p.A218V 0.072 262 0% 272 32.7% 9 33.3% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL MCM5 4174 genome.wustl.edu 37 22 35808620 35808620 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006739.3 +1 reviewed p.G346D 1.000 49 0% 47 34% 36 30.5% benign(0) tolerated(0.17) neutral(0.059) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases RBFOX2 23543 genome.wustl.edu 37 22 36205834 36205834 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001082578.1 -1 reviewed p.S152Y 1.000 696 0% 622 28.5% 18 27.7% possibly_damaging(0.688) deleterious(0) deleterious(0.691) NULL APOL3 80833 genome.wustl.edu 37 22 36537519 36537519 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145640.2 -1 reviewed p.R313Q 0.000 112 0% 143 41.3% 11 0% benign(0.009) tolerated(0.24) neutral(0.038) HMMPfam_ApoL APOL2 23780 genome.wustl.edu 37 22 36624250 36624250 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030882.2 -1 reviewed p.D72N 0.000 301 0% 278 30.9% 21 0% probably_damaging(0.98) deleterious(0.03) deleterious(0.788) HMMPfam_ApoL MYH9 4627 genome.wustl.edu 37 22 36718478 36718478 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002473.4 -1 reviewed p.R234H 1.000 37 0% 32 37.5% 105 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases CACNG2 10369 genome.wustl.edu 37 22 37098568 37098568 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006078.2 -1 reviewed p.F18 1.000 333 0% 350 33.7% 0 - - - - HMMPfam_PMP22_Claudin CSF2RB 1439 genome.wustl.edu 37 22 37334138 37334138 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000395.2 +1 reviewed p.F763C 0.018 62 0% 75 36% 0 - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) NULL TEX33 339669 genome.wustl.edu 37 22 37398002 37398002 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178552.3 -1 validated p.G37D 0.000 69 0% 87 29.9% 0 - possibly_damaging(0.768) tolerated(0.52) neutral(0.293) NULL CYTH4 27128 genome.wustl.edu 37 22 37690749 37690749 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013385.3 +1 reviewed p.E51K 0.515 96 2.1% 123 29.3% 3 0% benign(0.028) tolerated(0.09) neutral(0.298) NULL ELFN2 114794 genome.wustl.edu 37 22 37770439 37770439 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052906.3 -1 validated p.T379M 1.000 33 0% 23 17.4% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MFNG 4242 genome.wustl.edu 37 22 37868527 37868527 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002405.3 -1 reviewed p.V285I 0.805 147 0% 111 20.7% 3 0% benign(0) tolerated(0.3) neutral(0.029) HMMPfam_Fringe GGA1 26088 genome.wustl.edu 37 22 38014488 38014488 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013365.4 +1 reviewed p.R80W 0.996 14 0% 18 22.2% 12 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 GGA1 26088 genome.wustl.edu 37 22 38019360 38019360 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013365.4 +1 reviewed p.S212 0.508 50 0% 52 25% 19 42.1% - - - HMMPfam_GAT,superfamily_GAT-like domain POLR2F 5435 genome.wustl.edu 37 22 38421981 38421981 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000333418 +1 known p.E76* 0.008 159 0% 189 30.2% 0 - unknown(0) - - NULL PLA2G6 8398 genome.wustl.edu 37 22 38516881 38516881 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003560.2 -1 reviewed p.R543C 1.000 42 0% 43 23.3% 4 25% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like PLA2G6 8398 genome.wustl.edu 37 22 38565402 38565402 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003560.2 -1 reviewed p.F11C 0.997 73 0% 74 32.4% 3 100% possibly_damaging(0.678) deleterious(0.02) deleterious(0.625) NULL KDELR3 11015 genome.wustl.edu 37 22 38877514 38877514 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016657.1 +1 reviewed p.Y217H 0.000 122 0% 108 37% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL GTPBP1 9567 genome.wustl.edu 37 22 39117804 39117804 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004286.4 +1 reviewed p.A298T 1.000 117 0% 93 32.3% 17 29.4% possibly_damaging(0.936) deleterious(0) deleterious(0.826) HMMPfam_GTP_EFTU,superfamily_SSF52540 GTPBP1 9567 genome.wustl.edu 37 22 39123306 39123306 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004286.4 +1 reviewed p.L497P 0.999 113 0% 89 30.3% 22 36.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C GTPBP1 9567 genome.wustl.edu 37 22 39123307 39123307 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004286.4 +1 reviewed p.L497 0.524 112 0% 88 30.7% 22 36.3% - - - HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C APOBEC3B 9582 genome.wustl.edu 37 22 39382370 39382370 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004900.3 +1 reviewed p.F174 0.000 335 0% 349 10.3% 25 12% - - - HMMPfam_APOBEC_C,superfamily_Cytidine deaminase-like APOBEC3B 9582 genome.wustl.edu 37 22 39385526 39385526 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004900.3 +1 reviewed p.R212C 0.000 96 0% 91 29.7% 15 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_APOBEC_N APOBEC3D 140564 genome.wustl.edu 37 22 39418971 39418971 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152426.3 +1 reviewed p.V54 0.204 131 0.8% 131 37.4% 2 0% - - - HMMPfam_APOBEC_N APOBEC3F 200316 genome.wustl.edu 37 22 39448629 39448629 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145298.5 +1 validated p.F351L 0.022 316 0% 385 30.1% 1 0% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_APOBEC_C,superfamily_Cytidine deaminase-like APOBEC3G 60489 genome.wustl.edu 37 22 39477586 39477586 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021822.2 +1 reviewed p.L193I 0.028 217 0% 144 34.7% 12 0% benign(0.029) deleterious(0) neutral(0.446) NULL RPL3 6122 genome.wustl.edu 37 22 39708972 39708972 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000967.3 -1 reviewed p.D395E 1.000 81 0% 55 23.6% 3202 46.4% benign(0.043) tolerated(0.18) neutral(0.059) NULL DNAJB7 150353 genome.wustl.edu 37 22 41257547 41257547 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145174.1 -1 provisional p.S151Y 0.163 168 0% 181 35.4% 0 - possibly_damaging(0.87) deleterious(0.01) deleterious(0.744) NULL DNAJB7 150353 genome.wustl.edu 37 22 41257676 41257676 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145174.1 -1 provisional p.S108Y 0.960 176 0% 165 32.1% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_DnaJ_N EP300 2033 genome.wustl.edu 37 22 41547839 41547839 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001429.3 +1 reviewed p.L940 0.992 200 0% 202 27.7% 10 40% - - - NULL L3MBTL2 83746 genome.wustl.edu 37 22 41620735 41620735 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031488.4 +1 validated p.R394Q 0.988 65 0% 71 40.8% 22 45.4% possibly_damaging(0.948) tolerated(0.26) neutral(0.425) HMMPfam_MBT,superfamily_Tudor/PWWP/MBT MEI1 150365 genome.wustl.edu 37 22 42191507 42191507 + Silent SNP G G A rs147958692 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152513.3 +1 validated p.S1209 0.000 60 0% 50 46% 4 0% - - - NULL TCF20 6942 genome.wustl.edu 37 22 42607794 42607794 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005650.1 -1 reviewed p.K1173T 0.998 224 0% 181 30.9% 14 28.5% benign(0) deleterious(0) neutral(0.445) NULL TCF20 6942 genome.wustl.edu 37 22 42610329 42610329 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005650.1 -1 reviewed p.V328A 1.000 257 0% 234 26.9% 3 33.3% benign(0.226) tolerated(0.26) neutral(0.057) NULL SERHL2 253190 genome.wustl.edu 37 22 42952554 42952554 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014509.3 +1 provisional p.L128R 0.974 442 0% 376 17% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases EFCAB6 64800 genome.wustl.edu 37 22 44063087 44063087 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022785.2 -1 validated p.K627T 0.000 229 0% 230 26.5% 0 - benign(0.323) deleterious(0.05) neutral(0.447) superfamily_EF-hand PNPLA3 80339 genome.wustl.edu 37 22 44330508 44330508 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025225.2 +1 reviewed p.R240Q 0.180 37 0% 34 35.3% 0 - possibly_damaging(0.451) tolerated(1) neutral(0.147) NULL PNPLA3 80339 genome.wustl.edu 37 22 44332931 44332931 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_025225.2 +1 reviewed p.G253D 1.000 55 0% 63 28.6% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL NUP50 10762 genome.wustl.edu 37 22 45580334 45580334 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007172.3 +1 reviewed p.G402D 1.000 103 0% 106 34% 20 75% possibly_damaging(0.714) tolerated(0.08) deleterious(0.558) HMMPfam_Ran_BP1,HMMSmart_SM00160,superfamily_PH domain-like SMC1B 27127 genome.wustl.edu 37 22 45779399 45779399 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_148674.3 -1 validated p.K669T 1.000 177 0% 188 37.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SMC_N,superfamily_SMC_hinge,superfamily_SSF52540 SMC1B 27127 genome.wustl.edu 37 22 45795181 45795181 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_148674.3 -1 validated p.E303* 1.000 194 0% 172 27.9% 0 - - - - HMMPfam_SMC_N,superfamily_SSF52540 SMC1B 27127 genome.wustl.edu 37 22 45802443 45802443 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_148674.3 -1 validated p.K171N 1.000 236 0% 244 32.4% 0 - probably_damaging(0.976) tolerated(0.14) deleterious(0.667) HMMPfam_SMC_N,superfamily_SSF52540 SMC1B 27127 genome.wustl.edu 37 22 45804616 45804616 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_148674.3 -1 validated p.E91D 1.000 170 0% 140 33.6% 0 - possibly_damaging(0.512) tolerated(0.26) neutral(0.206) HMMPfam_SMC_N,superfamily_SSF52540 ATXN10 25814 genome.wustl.edu 37 22 46096205 46096205 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013236.3 +1 reviewed p.R145 0.999 88 0% 84 38.1% 111 42.3% - - - superfamily_ARM-type_fold ATXN10 25814 genome.wustl.edu 37 22 46189558 46189558 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000402380 +1 known p.R9I 0.002 32 0% 30 23.3% 0 - unknown(0) - - NULL PKDREJ 10343 genome.wustl.edu 37 22 46653089 46653089 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006071.1 -1 reviewed p.S2044F 0.103 73 0% 54 40.7% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_PKD_channel PKDREJ 10343 genome.wustl.edu 37 22 46653124 46653124 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006071.1 -1 reviewed p.S2032 0.000 72 0% 55 23.6% 0 - - - - HMMPfam_PKD_channel GTSE1 51512 genome.wustl.edu 37 22 46704318 46704318 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016426.6 +1 reviewed p.P80 0.000 124 0% 145 36.6% 13 76.9% - - - NULL CERK 64781 genome.wustl.edu 37 22 47116004 47116004 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022766.5 -1 validated p.R120W 0.001 131 0% 113 36.3% 19 21% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_PH ZBED4 9889 genome.wustl.edu 37 22 50277355 50277355 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014838.2 +1 validated p.F15 0.003 73 0% 64 32.8% 0 - - - - NULL MOV10L1 54456 genome.wustl.edu 37 22 50552190 50552190 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018995.2 +1 reviewed p.R286I 0.042 92 0% 70 31.4% 0 - benign(0.055) deleterious(0.05) neutral(0.349) NULL MOV10L1 54456 genome.wustl.edu 37 22 50552198 50552198 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018995.2 +1 reviewed p.T289A 0.110 94 0% 67 28.4% 0 - benign(0) tolerated(0.74) neutral(0.002) NULL MOV10L1 54456 genome.wustl.edu 37 22 50553578 50553578 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018995.2 +1 reviewed p.D388Y 0.001 129 0% 127 33.1% 0 - possibly_damaging(0.604) tolerated(0.07) deleterious(0.528) NULL MOV10L1 54456 genome.wustl.edu 37 22 50599453 50599453 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018995.2 +1 reviewed p.D1175N 0.119 88 0% 117 35% 0 - benign(0.016) tolerated(0.56) neutral(0.007) NULL CRLF2 64109 genome.wustl.edu 37 X 1317569 1317569 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000381567 -1 known p.N166H 0.001 20 0% 50 40% 0 - benign(0.004) tolerated(0.28) neutral(0.032) superfamily_Fibronectin type III CSF2RA 1438 genome.wustl.edu 37 X 1401635 1401635 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006140.4 +1 reviewed p.L13 0.000 288 0% 278 34.9% 0 - - - - NULL IL3RA 3563 genome.wustl.edu 37 X 1460691 1460691 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002183.2 +1 reviewed p.I11 0.000 105 0% 160 38.8% 1 0% - - - NULL IL3RA 3563 genome.wustl.edu 37 X 1464313 1464313 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002183.2 +1 reviewed p.D57N 0.001 247 0% 310 35.2% 2 0% possibly_damaging(0.484) tolerated(0.56) neutral(0.167) NULL SLC25A6 293 genome.wustl.edu 37 X 1508474 1508474 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001636.3 -1 reviewed p.A86 1.000 89 0% 94 34% 1355 38.5% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ASMT 438 genome.wustl.edu 37 X 1752167 1752167 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004043.2 +1 reviewed p.Q257H 0.470 278 0% 322 32.6% 0 - benign(0.007) deleterious(0.03) neutral(0.364) HMMPfam_Methyltransf_2,superfamily_SSF53335 ARSD 414 genome.wustl.edu 37 X 2828814 2828814 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001669.2 -1 reviewed p.E341K 0.397 169 0% 127 30.7% 8 12.5% benign(0.118) deleterious(0.02) neutral(0.393) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like ARSE 415 genome.wustl.edu 37 X 2876330 2876330 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000047.2 -1 reviewed p.G57V 1.000 75 0% 93 28% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSH 347527 genome.wustl.edu 37 X 2947343 2947343 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001011719.1 +1 validated p.D419N 0.402 139 0% 126 42.9% 0 - benign(0.007) tolerated(0.07) neutral(0.319) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSF 416 genome.wustl.edu 37 X 2998959 2998959 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004042.3 +1 reviewed p.V104A 0.034 108 0% 128 29.7% 0 - benign(0.134) tolerated(0.35) neutral(0.032) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like ARSF 416 genome.wustl.edu 37 X 3030574 3030574 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004042.3 +1 reviewed p.R584W 0.000 78 0% 72 34.7% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL PRKX 5613 genome.wustl.edu 37 X 3530318 3530318 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005044.4 -1 reviewed p.E334K 1.000 30 0% 41 34.1% 25 48% possibly_damaging(0.712) deleterious(0) deleterious(0.702) HMMSmart_S_TK_X LOC100128355 100128355 genome.wustl.edu 37 X 3635293 3635293 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343797.1 +1 model p.G103V 1.000 43 0% 51 13.7% 0 - - - - HMMPfam_ubiquitin,HMMSmart_SM00213,PatternScan_UBIQUITIN_1,superfamily_Ubiquitin-like FAM9A 171482 genome.wustl.edu 37 X 8767125 8767125 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174951.3 -1 validated p.I34 0.001 25 0% 26 38.5% 0 - - - - NULL FAM9B 171483 genome.wustl.edu 37 X 9000452 9000452 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_205849.2 -1 validated p.T27A 0.244 433 0% 376 25% 0 - possibly_damaging(0.868) deleterious(0) deleterious(0.782) NULL TBL1X 6907 genome.wustl.edu 37 X 9660239 9660239 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001139466.1 +1 reviewed p.R279Q 0.994 112 0% 94 37.2% 5 0% benign(0.128) tolerated(0.93) neutral(0.011) HMMSmart_SM00320 TBL1X 6907 genome.wustl.edu 37 X 9661249 9661249 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001139466.1 +1 reviewed p.D318Y 1.000 137 0% 124 29% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_SM00320,superfamily_WD40 repeat-like TBL1X 6907 genome.wustl.edu 37 X 9679795 9679795 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001139466.1 +1 reviewed p.C528 0.957 109 0% 99 20.2% 4 75% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 GPR143 4935 genome.wustl.edu 37 X 9728808 9728808 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000447366 -1 known p.G39R 0.000 36 0% 45 26.7% 0 - - - - HMMPfam_Ocular_alb WWC3 55841 genome.wustl.edu 37 X 10096044 10096044 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015691.3 +1 validated p.N708S 0.370 115 0% 98 38.8% 0 - benign(0.003) tolerated(1) - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CLCN4 1183 genome.wustl.edu 37 X 10176347 10176347 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001830.3 +1 reviewed p.P369Q 1.000 491 0% 388 30.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel CLCN4 1183 genome.wustl.edu 37 X 10182074 10182074 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001830.3 +1 reviewed p.R644C 1.000 45 0% 37 29.7% 3 0% probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_CBS,HMMSmart_SM00116,superfamily_CBS-domain MID1 4281 genome.wustl.edu 37 X 10535283 10535283 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000381.2 -1 reviewed p.R102Q 0.999 185 0% 161 31.7% 3 66.6% possibly_damaging(0.844) deleterious(0.01) deleterious(0.729) NULL ARHGAP6 395 genome.wustl.edu 37 X 11682553 11682553 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013427.2 -1 reviewed p.K132N 1.000 16 0% 15 60% 0 - benign(0.261) deleterious(0) deleterious(0.472) NULL FRMPD4 9758 genome.wustl.edu 37 X 12708402 12708402 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014728.3 +1 reviewed p.G257E 0.947 319 0% 268 31.3% 0 - benign(0.148) tolerated(0.07) neutral(0.332) HMMSmart_B41 FRMPD4 9758 genome.wustl.edu 37 X 12728609 12728609 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014728.3 +1 reviewed p.S521L 1.000 435 0% 417 29.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL FRMPD4 9758 genome.wustl.edu 37 X 12734552 12734552 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014728.3 +1 reviewed p.F658 0.261 419 0% 443 12.4% 0 - - - - NULL FRMPD4 9758 genome.wustl.edu 37 X 12736823 12736823 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014728.3 +1 reviewed p.A1293V 0.998 461 0% 406 30% 0 - benign(0) tolerated(0.34) neutral(0.023) NULL TLR7 51284 genome.wustl.edu 37 X 12905853 12905853 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016562.3 +1 reviewed p.F742 1.000 350 0% 354 21.5% 2 0% - - - HMMSmart_SM00369,superfamily_L domain-like TLR8 51311 genome.wustl.edu 37 X 12937794 12937794 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138636.4 +1 reviewed p.S212Y 0.622 344 0% 327 30% 0 - benign(0.011) deleterious(0) neutral(0.445) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52047 RAB9A 9367 genome.wustl.edu 37 X 13727066 13727066 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004251.3 +1 provisional p.E67D 1.000 485 0% 371 31% 45 0% benign(0.274) deleterious(0) deleterious(0.474) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RAB9A 9367 genome.wustl.edu 37 X 13727374 13727374 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004251.3 +1 provisional p.R170Q 1.000 239 0% 224 34.8% 63 87.3% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases GPM6B 2824 genome.wustl.edu 37 X 13834963 13834963 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001995.1 -1 reviewed p.V21L 1.000 541 0% 459 28.1% 0 - benign(0.227) tolerated(0.24) neutral(0.060) NULL GLRA2 2742 genome.wustl.edu 37 X 14592483 14592483 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001118885.1 +1 reviewed p.I77M 1.000 269 0% 226 37.6% 1 0% benign(0.205) tolerated(0.49) neutral(0.030) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like ASB11 140456 genome.wustl.edu 37 X 15306046 15306046 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080873.1 -1 reviewed p.A268 0.001 84 0% 86 34.9% 0 - - - - superfamily_ANK FIGF 2277 genome.wustl.edu 37 X 15376306 15376306 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004469.2 -1 reviewed p.E104A 1.000 380 0% 316 26.3% 0 - probably_damaging(0.992) tolerated(0.12) deleterious(0.708) superfamily_Cystine-knot cytokines PIR 8544 genome.wustl.edu 37 X 15403223 15403223 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001018109.1 -1 reviewed p.N259S 1.000 114 0% 88 27.3% 2 0% probably_damaging(0.992) tolerated(0.23) deleterious(0.489) HMMPfam_Pirin_C,superfamily_RmlC_like_cupin BMX 660 genome.wustl.edu 37 X 15527515 15527515 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001721.6 +1 reviewed p.L68I 0.800 63 0% 60 26.7% 0 - benign(0) tolerated(0.23) neutral(0.042) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 BMX 660 genome.wustl.edu 37 X 15548113 15548113 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001721.6 +1 reviewed p.I301T 1.000 109 0% 92 27.2% 1 0% benign(0.004) tolerated(0.19) neutral(0.050) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 ACE2 59272 genome.wustl.edu 37 X 15593794 15593794 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021804.2 -1 reviewed p.E479D 1.000 251 0% 265 30.6% 0 - possibly_damaging(0.662) tolerated(0.07) deleterious(0.553) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" ACE2 59272 genome.wustl.edu 37 X 15599497 15599497 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021804.2 -1 reviewed p.R306I 0.001 371 0% 386 32.4% 1 0% probably_damaging(0.968) deleterious(0) deleterious(0.855) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" ACE2 59272 genome.wustl.edu 37 X 15609837 15609837 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021804.2 -1 reviewed p.N194K 0.693 653 0.2% 658 27.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" TMEM27 57393 genome.wustl.edu 37 X 15682895 15682895 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020665.4 -1 reviewed p.L2 0.992 124 0% 123 31.7% 0 - - - - NULL CA5B 11238 genome.wustl.edu 37 X 15794933 15794933 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007220.3 +1 reviewed p.L239I 1.000 240 0% 230 12.2% 3 0% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase AP1S2 8905 genome.wustl.edu 37 X 15870608 15870608 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003916.3 -1 reviewed p.R14* 1.000 63 0% 54 31.5% 22 4.5% - - - HMMPfam_Clat_adaptor_s,superfamily_SNARE-like GRPR 2925 genome.wustl.edu 37 X 16168626 16168626 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005314.2 +1 reviewed p.E204 0.983 334 0% 367 27.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CTPS2 56474 genome.wustl.edu 37 X 16657016 16657016 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000380207 -1 known p.S154P 0.000 192 0% 200 29% 0 - unknown(0) deleterious(0.05) - NULL S100G 795 genome.wustl.edu 37 X 16672551 16672551 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004057.2 +1 reviewed p.L53 0.018 453 0.2% 501 32.1% 0 - - - - PatternScan_S100_CABP,HMMPfam_efhand,superfamily_SSF47473 TXLNG 55787 genome.wustl.edu 37 X 16852420 16852420 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018360.2 +1 reviewed p.A333 0.987 511 0% 363 30.6% 4 25% - - - HMMPfam_Taxilin TXLNG 55787 genome.wustl.edu 37 X 16855743 16855743 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018360.2 +1 reviewed p.E363* 1.000 128 0% 91 22% 1 100% - - - HMMPfam_Taxilin RBBP7 5931 genome.wustl.edu 37 X 16875813 16875813 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002893.3 -1 reviewed p.N167K 1.000 378 0% 391 17.1% 146 50.6% benign(0) tolerated(0.42) neutral(0.014) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 RBBP7 5931 genome.wustl.edu 37 X 16876913 16876913 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002893.3 -1 reviewed p.E123K 1.000 269 0% 288 27.8% 158 0.6% benign(0.005) tolerated(0.31) neutral(0.027) HMMSmart_SM00320,superfamily_WD40 repeat-like NHS 4810 genome.wustl.edu 37 X 17742491 17742491 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198270.2 +1 reviewed p.R373Q 1.000 641 0% 551 32.5% 2 0% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL NHS 4810 genome.wustl.edu 37 X 17745909 17745909 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198270.2 +1 reviewed p.R1207H 0.003 546 0.2% 437 33% 1 0% benign(0) tolerated(1) - NULL RAI2 10742 genome.wustl.edu 37 X 17818977 17818977 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021785.4 -1 reviewed p.S385Y 0.992 181 0% 169 30.2% 68 94.1% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL RAI2 10742 genome.wustl.edu 37 X 17819458 17819458 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021785.4 -1 reviewed p.V225I 1.000 90 0% 88 25% 69 0% unknown(0) deleterious(0) - NULL BEND2 139105 genome.wustl.edu 37 X 18213498 18213498 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153346.4 -1 validated p.Q366H 0.028 197 0% 174 28.7% 0 - benign(0.253) deleterious(0.02) neutral(0.409) NULL SCML2 10389 genome.wustl.edu 37 X 18260683 18260683 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006089.2 -1 validated p.P617H 0.931 159 0% 109 22.9% 0 - possibly_damaging(0.824) deleterious(0.03) deleterious(0.676) superfamily_SAM/Pointed domain SCML2 10389 genome.wustl.edu 37 X 18338511 18338511 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006089.2 -1 validated p.M143V 0.995 240 0% 165 24.8% 2 100% possibly_damaging(0.894) deleterious(0.02) deleterious(0.735) HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT CDKL5 6792 genome.wustl.edu 37 X 18622693 18622693 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001037343.1 +1 reviewed p.R550Q 0.995 420 0% 359 35.1% 0 - probably_damaging(0.994) tolerated(0.08) deleterious(0.752) NULL PPEF1 5475 genome.wustl.edu 37 X 18767973 18767973 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006240.2 +1 reviewed p.S100L 0.000 448 0% 366 29.8% 1 0% benign(0.002) tolerated(0.4) neutral(0.016) HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases ENSG00000250774 0 genome.wustl.edu 37 X 18917277 18917277 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000502927 +1 known NULL 0.000 25 0% 38 34.2% 0 - - - - - GPR64 10149 genome.wustl.edu 37 X 19014254 19014254 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001079858.2 -1 validated p.I877 1.000 257 0% 243 25.1% 0 - - - - HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Family A G protein-coupled receptor-like PDHA1 5160 genome.wustl.edu 37 X 19368114 19368114 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000284.3 +1 reviewed p.E59 1.000 141 0% 181 45.3% 70 85.7% - - - superfamily_Thiamin diphosphate-binding fold (THDP-binding) MAP3K15 389840 genome.wustl.edu 37 X 19410499 19410499 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001001671.3 -1 validated p.Y238H 1.000 447 0% 329 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SH3KBP1 30011 genome.wustl.edu 37 X 19554556 19554556 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031892.2 -1 reviewed p.K659N 1.000 96 0% 118 24.6% 17 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CXorf23 256643 genome.wustl.edu 37 X 19947947 19947947 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198279.3 -1 validated p.F659V 1.000 512 0% 441 30.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CXorf23 256643 genome.wustl.edu 37 X 19973528 19973528 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000340625 -1 known p.N86H 1.000 153 0% 115 29.6% 0 - - - - NULL MAP7D2 256714 genome.wustl.edu 37 X 20028971 20028971 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152780.3 -1 validated p.E717K 0.998 365 0% 322 28% 0 - probably_damaging(0.977) deleterious(0.01) deleterious(0.825) NULL MAP7D2 256714 genome.wustl.edu 37 X 20029055 20029055 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152780.3 -1 validated p.L689I 0.997 334 0% 275 22.2% 0 - probably_damaging(0.967) tolerated(0.51) neutral(0.418) NULL MAP7D2 256714 genome.wustl.edu 37 X 20030502 20030502 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152780.3 -1 validated p.D638 0.996 649 0% 569 30.4% 0 - - - - NULL EIF1AX 1964 genome.wustl.edu 37 X 20152109 20152109 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001412.3 -1 reviewed p.S74L 1.000 69 0% 57 31.6% 59 57.6% possibly_damaging(0.713) deleterious(0) deleterious(0.702) HMMSmart_SM00652,HMMPfam_eIF-1a,superfamily_Nucleic acid-binding proteins CNKSR2 22866 genome.wustl.edu 37 X 21488922 21488922 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014927.3 +1 reviewed p.H186 1.000 127 0% 116 22.4% 0 - - - - NULL CNKSR2 22866 genome.wustl.edu 37 X 21550165 21550165 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014927.3 +1 reviewed p.R428Q 1.000 280 0% 241 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1170 CNKSR2 22866 genome.wustl.edu 37 X 21609231 21609231 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014927.3 +1 reviewed p.A583 0.575 353 0% 284 29.9% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CNKSR2 22866 genome.wustl.edu 37 X 21627220 21627220 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014927.3 +1 reviewed p.K726T 1.000 144 0.7% 112 30.4% 0 - probably_damaging(0.976) deleterious(0.02) deleterious(0.801) NULL YY2 404281 genome.wustl.edu 37 X 21874824 21874824 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206923.3 +1 reviewed p.H74 0.005 94 0% 93 10.8% 3 0% - - - NULL YY2 404281 genome.wustl.edu 37 X 21875614 21875614 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_206923.3 +1 reviewed p.D338N 1.000 425 0% 330 33.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_C2H2 and C2HC zinc fingers PHEX 5251 genome.wustl.edu 37 X 22094544 22094544 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000444.4 +1 reviewed p.E130K 1.000 197 0% 152 28.3% 0 - probably_damaging(0.99) tolerated(0.65) neutral(0.445) HMMPfam_Peptidase_M13_N,superfamily_SSF55486 ENSG00000249566 0 genome.wustl.edu 37 X 23094125 23094125 + RNA SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000508288 -1 novel NULL 1.000 153 0% 103 31.1% 27 0% - - - - ENSG00000249566 0 genome.wustl.edu 37 X 23094902 23094902 + RNA SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000508288 -1 novel NULL 0.100 258 0% 170 27.1% 33 6% - - - - LOC653707 653707 genome.wustl.edu 37 X 23216506 23216506 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343798.1 +1 model p.F17 0.068 57 0% 35 20% 0 - - - - NULL PTCHD1 139411 genome.wustl.edu 37 X 23398111 23398111 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173495.2 +1 validated p.Y252C 1.000 297 0% 236 32.2% 1 0% benign(0.002) deleterious(0.04) neutral(0.349) HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain KLHL15 80311 genome.wustl.edu 37 X 24006224 24006224 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_030624.2 -1 reviewed p.Q543H 1.000 438 0% 484 34.3% 0 - benign(0.143) deleterious(0) neutral(0.457) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central FAM48B2 170067 genome.wustl.edu 37 X 24331420 24331420 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136233.1 -1 provisional p.L5V 0.003 129 0% 99 24.2% 0 - - - - NULL PDK3 5165 genome.wustl.edu 37 X 24545775 24545775 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142386.2 +1 reviewed p.E279* 1.000 59 0% 68 25% 7 0% - - - HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase PCYT1B 9468 genome.wustl.edu 37 X 24690710 24690710 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000379145 -1 known p.R14C 0.000 198 0% 215 26% 0 - benign(0.087) tolerated(0.12) neutral(0.267) NULL POLA1 5422 genome.wustl.edu 37 X 24744109 24744109 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016937.3 +1 reviewed p.K437N 1.000 189 0% 130 29.2% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DNA_pol_B_exo,superfamily_RNaseH_fold POLA1 5422 genome.wustl.edu 37 X 24757655 24757655 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016937.3 +1 reviewed p.Q729P 0.319 147 0% 168 29.8% 8 0% benign(0) tolerated(0.2) neutral(0.049) HMMSmart_POLBc,superfamily_RNaseH_fold POLA1 5422 genome.wustl.edu 37 X 24760155 24760155 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016937.3 +1 reviewed p.E789K 1.000 274 0% 293 30.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_RNaseH_fold,superfamily_SSF56672 POLA1 5422 genome.wustl.edu 37 X 24828894 24828894 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016937.3 +1 reviewed p.E1017* 1.000 224 0% 126 31% 6 0% - - - HMMPfam_DNA_pol_B,superfamily_SSF56672 LOC389842 389842 genome.wustl.edu 37 X 25663949 25663949 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_372200.7 -1 model p.E166* 0.022 142 0% 97 37.1% 48 0% - - - superfamily_PH domain-like MAGEB6 158809 genome.wustl.edu 37 X 26212108 26212108 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173523.2 +1 reviewed p.L49 0.000 166 0% 156 35.3% 0 - - - - NULL DCAF8L2 347442 genome.wustl.edu 37 X 27765880 27765880 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136533.1 +1 provisional p.M290V 0.983 85 0% 101 24.8% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DCAF8L2 347442 genome.wustl.edu 37 X 27766835 27766835 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136533.1 +1 provisional p.S608L 0.000 59 0% 63 15.9% 0 - - - - NULL MAGEB10 139422 genome.wustl.edu 37 X 27839520 27839520 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182506.3 +1 reviewed p.E33K 0.000 51 0% 65 35.4% 0 - benign(0.256) tolerated(0.6) neutral(0.031) NULL MAGEB10 139422 genome.wustl.edu 37 X 27839718 27839718 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182506.3 +1 reviewed p.D99Y 0.000 64 0% 71 42.3% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL MAGEB10 139422 genome.wustl.edu 37 X 27839738 27839738 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182506.3 +1 reviewed p.S105 0.000 68 0% 89 27% 0 - - - - NULL MAGEB10 139422 genome.wustl.edu 37 X 27840186 27840186 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182506.3 +1 reviewed p.E255K 0.000 91 0% 82 35.4% 0 - benign(0.115) tolerated(0.18) neutral(0.065) HMMPfam_MAGE LOC392435 392435 genome.wustl.edu 37 X 27850346 27850346 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343800.1 +1 model p.R53Q 0.000 23 0% 27 44.4% 0 - - - - NULL DCAF8L1 139425 genome.wustl.edu 37 X 27998293 27998293 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017930.1 -1 reviewed p.C387R 0.786 247 0% 220 30.9% 0 - benign(0.005) tolerated(0.41) neutral(0.015) HMMSmart_WD40,superfamily_WD40_like IL1RAPL1 11141 genome.wustl.edu 37 X 29301089 29301089 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014271.3 +1 reviewed p.K39N 1.000 200 0% 192 30.2% 0 - probably_damaging(0.965) tolerated(0.07) deleterious(0.726) HMMSmart_SM00409,superfamily_Immunoglobulin MAGEB3 4114 genome.wustl.edu 37 X 30254267 30254267 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002365.4 +1 reviewed p.D76Y 0.000 40 0% 57 28.1% 0 - possibly_damaging(0.7) deleterious(0.02) deleterious(0.635) NULL MAGEB4 4115 genome.wustl.edu 37 X 30260291 30260291 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002367.3 +1 reviewed p.E13D 0.040 80 0% 60 36.7% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL MAGEB4 4115 genome.wustl.edu 37 X 30260410 30260410 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002367.3 +1 reviewed p.S53Y 0.000 70 0% 45 26.7% 0 - possibly_damaging(0.952) tolerated(0.65) neutral(0.399) NULL MAGEB4 4115 genome.wustl.edu 37 X 30261226 30261226 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002367.3 +1 reviewed p.R325H 0.000 93 0% 68 32.4% 0 - unknown(0) tolerated(0.58) - NULL GK 2710 genome.wustl.edu 37 X 30671719 30671719 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128127.1 +1 reviewed p.S22L 1.000 38 0% 49 32.7% 4 0% possibly_damaging(0.949) deleterious(0) deleterious(0.838) HMMPfam_FGGY_N,superfamily_SSF53067 DMD 1756 genome.wustl.edu 37 X 31165458 31165458 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004006.2 -1 reviewed p.Q3577H 1.000 201 0% 136 36.8% 1 0% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) superfamily_Prefoldin DMD 1756 genome.wustl.edu 37 X 32235084 32235084 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004006.2 -1 reviewed p.K2129N 1.000 125 0% 95 26.3% 0 - possibly_damaging(0.44) tolerated(0.13) neutral(0.396) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32361328 32361328 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004006.2 -1 reviewed p.D1888Y 1.000 266 0% 205 12.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32382763 32382763 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004006.2 -1 reviewed p.Q1697P 0.993 195 0% 186 25.8% 0 - benign(0.233) deleterious(0.02) neutral(0.407) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32398743 32398743 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004006.2 -1 reviewed p.R1577* 1.000 263 0% 222 37.4% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32404523 32404523 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004006.2 -1 reviewed p.G1526 1.000 187 0% 165 33.9% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32482733 32482733 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004006.2 -1 reviewed p.E1082D 1.000 484 0% 369 28.7% 0 - probably_damaging(1) tolerated(0.51) deleterious(0.509) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32503173 32503173 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004006.2 -1 reviewed p.R889Q 0.981 193 0.5% 172 30.8% 0 - benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FAM47A 158724 genome.wustl.edu 37 X 34148571 34148571 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203408.3 -1 validated p.R609C 0.000 226 0% 228 28.1% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL FAM47A 158724 genome.wustl.edu 37 X 34150173 34150173 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203408.3 -1 validated p.E75K 0.023 188 0% 180 28.9% 0 - probably_damaging(0.998) tolerated(0.66) deleterious(0.477) NULL FAM47A 158724 genome.wustl.edu 37 X 34150303 34150303 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_203408.3 -1 validated p.A31 0.001 142 0% 130 33.8% 0 - - - - NULL FAM47B 170062 genome.wustl.edu 37 X 34960955 34960955 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152631.2 +1 validated p.D3N 0.000 59 0% 50 28% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM47B 170062 genome.wustl.edu 37 X 34961413 34961413 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152631.2 +1 validated p.P155 0.113 171 0% 169 28.4% 0 - - - - NULL CXorf22 170063 genome.wustl.edu 37 X 35989995 35989995 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152632.3 +1 validated p.G723* 0.000 65 0% 89 37.1% 0 - - - - NULL CXorf22 170063 genome.wustl.edu 37 X 36007510 36007510 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152632.3 +1 validated p.E930* 0.356 98 0% 80 36.2% 0 - - - - NULL CXorf59 286464 genome.wustl.edu 37 X 36091428 36091428 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173695.2 +1 validated p.L121 1.000 228 0% 189 27.5% 0 - - - - NULL FAM47C 442444 genome.wustl.edu 37 X 37027712 37027712 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013736.2 +1 validated p.R410H 0.004 326 0.3% 294 28.6% 0 - unknown(0) tolerated(0.15) - NULL FAM47C 442444 genome.wustl.edu 37 X 37028863 37028863 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013736.2 +1 validated p.R794C 0.685 221 0% 167 30.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CYBB 1536 genome.wustl.edu 37 X 37655332 37655332 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000397.3 +1 reviewed p.V204 0.152 259 0% 218 24.3% 9 0% - - - HMMPfam_Ferric_reduct CYBB 1536 genome.wustl.edu 37 X 37665642 37665642 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000397.3 +1 reviewed p.I439 0.996 244 0% 236 11.9% 21 0% - - - HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain SRPX 8406 genome.wustl.edu 37 X 38031171 38031171 + Missense_Mutation SNP G G C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006307.4 -1 validated p.D163E 1.000 128 0.8% 116 36.2% 0 - benign(0.253) tolerated(1) neutral(0.026) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SRPX 8406 genome.wustl.edu 37 X 38037563 38037563 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006307.4 -1 validated p.V44 0.397 121 0% 78 28.2% 0 - - - - NULL OTC 5009 genome.wustl.edu 37 X 38229107 38229107 + Missense_Mutation SNP G G A rs66550389 byCluster TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000531.5 +1 reviewed p.R92Q 1.000 132 0% 126 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_CARBAMOYLTRANSFERASE,superfamily_Aspartate/ornithine carbamoyltransferase,HMMPfam_OTCace_N BCOR 54880 genome.wustl.edu 37 X 39934252 39934252 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001123385.1 -1 reviewed p.S116L 0.984 124 0% 147 27.9% 0 - benign(0.121) deleterious(0.01) neutral(0.415) NULL MED14 9282 genome.wustl.edu 37 X 40511098 40511098 + Nonsense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004229.3 -1 reviewed p.L1442* 1.000 78 0% 61 31.1% 19 0% - - - NULL MED14 9282 genome.wustl.edu 37 X 40541160 40541160 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004229.3 -1 reviewed p.R801C 1.000 210 0% 206 34.5% 11 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL USP9X 8239 genome.wustl.edu 37 X 40996172 40996172 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039590.2 +1 reviewed p.F184C 1.000 227 0% 224 33.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP9X 8239 genome.wustl.edu 37 X 40999934 40999934 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039590.2 +1 reviewed p.K227T 1.000 126 0% 87 35.6% 2 50% benign(0) tolerated(0.07) neutral(0.319) NULL USP9X 8239 genome.wustl.edu 37 X 41002634 41002634 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039590.2 +1 reviewed p.R418C 1.000 158 0% 101 31.7% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP9X 8239 genome.wustl.edu 37 X 41012233 41012233 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039590.2 +1 reviewed p.R599H 1.000 189 0.5% 151 25.2% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CASK 8573 genome.wustl.edu 37 X 41419030 41419030 + Splice_Site SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003688.3 -1 reviewed e18+2 1.000 61 0% 26 26.9% 0 - - - - - GPR34 2857 genome.wustl.edu 37 X 41555159 41555159 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001097579.1 +1 validated p.I91M 0.991 301 0% 240 28.3% 3 0% possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR34 2857 genome.wustl.edu 37 X 41555683 41555683 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001097579.1 +1 validated p.R266H 0.970 108 0% 83 27.7% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MAOA 4128 genome.wustl.edu 37 X 43542835 43542835 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000240.2 +1 reviewed p.G50* 1.000 195 0% 187 26.7% 1 0% - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain MAOA 4128 genome.wustl.edu 37 X 43571137 43571137 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000240.2 +1 reviewed p.R109W 0.122 113 0% 127 32.3% 1 0% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain MAOA 4128 genome.wustl.edu 37 X 43591972 43591972 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000240.2 +1 reviewed p.D328Y 1.000 206 0% 137 27% 0 - probably_damaging(0.985) deleterious(0.02) deleterious(0.815) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain MAOA 4128 genome.wustl.edu 37 X 43603735 43603735 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000240.2 +1 reviewed p.K520T 0.288 160 0% 86 27.9% 3 0% benign(0.193) deleterious(0.01) neutral(0.424) superfamily_FAD/NAD(P)-binding domain MAOB 4129 genome.wustl.edu 37 X 43627946 43627946 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000898.4 -1 reviewed p.G455 0.958 225 0% 191 26.7% 1 100% unknown(0) - - superfamily_FAD/NAD(P)-binding domain EFHC2 80258 genome.wustl.edu 37 X 44108061 44108061 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000441230 -1 known p.R301* 0.719 45 0% 26 34.6% 0 - - - - HMMSmart_SM00676 EFHC2 80258 genome.wustl.edu 37 X 44120447 44120447 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000333807 -1 known p.F160L 1.000 256 0% 205 23.4% 0 - benign(0.023) tolerated(0.9) neutral(0.001) HMMSmart_SM00676 DUSP21 63904 genome.wustl.edu 37 X 44703847 44703847 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022076.3 +1 reviewed p.E157K 1.000 143 0% 137 29.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 KDM6A 7403 genome.wustl.edu 37 X 44879913 44879913 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021140.2 +1 reviewed p.E168* 1.000 347 0% 312 30.8% 3 0% - - - superfamily_SSF48452 KDM6A 7403 genome.wustl.edu 37 X 44935944 44935944 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021140.2 +1 reviewed p.N902S 1.000 202 0% 151 29.8% 11 0% benign(0.008) tolerated(0.34) neutral(0.023) NULL CXorf36 79742 genome.wustl.edu 37 X 45059968 45059968 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_176819.3 -1 validated p.S35Y 0.437 85 0% 73 37% 4 0% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL ZNF674 641339 genome.wustl.edu 37 X 46359894 46359894 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039891.2 -1 validated p.R377I 0.000 284 0% 279 34.1% 1 100% benign(0.011) tolerated(0.07) neutral(0.320) superfamily_SSF57667 RP2 6102 genome.wustl.edu 37 X 46713289 46713289 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006915.2 +1 reviewed p.D161Y 1.000 197 0% 228 29.8% 8 0% possibly_damaging(0.936) deleterious(0.03) deleterious(0.746) HMMPfam_TBCC RP2 6102 genome.wustl.edu 37 X 46719466 46719466 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006915.2 +1 reviewed p.S271F 0.016 129 0% 99 27.3% 7 0% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) superfamily_NDK USP11 8237 genome.wustl.edu 37 X 47098853 47098853 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004651.3 +1 reviewed p.E173 0.995 101 0% 81 25.9% 16 0% - - - HMMSmart_DUSP,HMMPfam_DUF1055 TIMP1 7076 genome.wustl.edu 37 X 47444915 47444915 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000377018 +1 known p.S95L 0.002 25 0% 28 35.7% 2 0% unknown(0) - - HMMPfam_TIMP,HMMSmart_NTR SYN1 6853 genome.wustl.edu 37 X 47466427 47466427 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006950.3 -1 reviewed p.F148L 1.000 85 0% 70 32.9% 8 0% probably_damaging(0.987) tolerated(0.05) deleterious(0.782) HMMPfam_Synapsin,superfamily_PreATP-grasp domain CFP 5199 genome.wustl.edu 37 X 47486877 47486877 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145252.1 -1 reviewed p.V189 0.769 100 0% 58 31% 2 0% - - - HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 ZNF81 347344 genome.wustl.edu 37 X 47774500 47774500 + Missense_Mutation SNP G G A rs181393507 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007137.3 +1 reviewed p.R152H 0.000 114 0% 115 32.2% 1 0% benign(0) tolerated(0.42) neutral(0.014) NULL ZNF81 347344 genome.wustl.edu 37 X 47774690 47774690 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007137.3 +1 reviewed p.K215N 0.983 227 0% 207 59.9% 0 - benign(0.01) tolerated(0.24) neutral(0.038) NULL ZNF81 347344 genome.wustl.edu 37 X 47774969 47774969 + Silent SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007137.3 +1 reviewed p.V308 0.987 162 0% 148 39.9% 0 - - - - superfamily_SSF57667 ZNF81 347344 genome.wustl.edu 37 X 47775306 47775306 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007137.3 +1 reviewed p.K421Q 1.000 155 0% 171 31% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF182 7569 genome.wustl.edu 37 X 47836137 47836137 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006962.1 -1 reviewed p.R450I 1.000 220 0.5% 231 29% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF182 7569 genome.wustl.edu 37 X 47837006 47837006 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006962.1 -1 reviewed p.H160 0.075 140 0% 166 33.1% 2 0% - - - NULL SPACA5 389852 genome.wustl.edu 37 X 47867812 47867812 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_205856.2 +1 validated p.A62T 0.006 1156 0% 1132 14% 0 - benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 SSX6 280657 genome.wustl.edu 37 X 47972594 47972594 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000304314 +1 known p.T141I 0.000 461 0% 332 25.6% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL SSX5 6758 genome.wustl.edu 37 X 48053630 48053630 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021015.3 -1 reviewed p.R113H 0.000 303 0% 345 23.5% 0 - benign(0.007) tolerated(0.16) neutral(0.059) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) SSX9 280660 genome.wustl.edu 37 X 48163753 48163753 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000376909 -1 known p.Y31* 0.032 412 0% 390 29% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SSX3 10214 genome.wustl.edu 37 X 48209519 48209519 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021014.2 -1 reviewed p.S123 0.000 887 0% 788 28.2% 0 - - - - NULL SLC38A5 92745 genome.wustl.edu 37 X 48319449 48319449 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033518.2 -1 validated p.A292V 0.892 35 0% 41 22% 4 0% benign(0.023) tolerated(0.61) neutral(0.005) HMMPfam_Aa_trans FTSJ1 24140 genome.wustl.edu 37 X 48339714 48339714 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012280.2 +1 reviewed p.G151D 1.000 74 0% 89 32.6% 31 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FtsJ,superfamily_S-adenosyl-L-methionine-dependent methyltransferases EBP 10682 genome.wustl.edu 37 X 48385382 48385382 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006579.2 +1 reviewed p.E103* 1.000 193 0% 656 9.5% 183 0% - - - HMMPfam_EBP TBC1D25 4943 genome.wustl.edu 37 X 48418550 48418550 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002536.2 +1 validated p.F418 0.631 31 0% 36 38.9% 11 54.5% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D25 4943 genome.wustl.edu 37 X 48418599 48418599 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002536.2 +1 validated p.P435S 1.000 18 0% 34 35.3% 6 0% possibly_damaging(0.771) deleterious(0.02) deleterious(0.669) HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p WDR13 64743 genome.wustl.edu 37 X 48458046 48458046 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017883.4 +1 reviewed p.S155N 0.998 75 0% 64 39.1% 72 0% possibly_damaging(0.637) tolerated(0.22) neutral(0.265) NULL WAS 7454 genome.wustl.edu 37 X 48544141 48544141 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000377.2 +1 reviewed p.N127H 1.000 16 0% 17 47.1% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_WH1,HMMSmart_WH1,superfamily_SSF50729 WAS 7454 genome.wustl.edu 37 X 48549530 48549530 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000377.2 +1 reviewed p.E496* 0.909 101 0% 92 34.8% 14 0% - - - NULL GLOD5 392465 genome.wustl.edu 37 X 48629486 48629486 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000445229 +1 known p.S82F 0.297 138 0% 155 27.7% 4 0% - - - HMMPfam_Glyoxalase,superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase HDAC6 10013 genome.wustl.edu 37 X 48681341 48681341 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006044.2 +1 reviewed p.G844 0.002 107 0% 112 28.6% 19 0% - - - NULL KCND1 3750 genome.wustl.edu 37 X 48823056 48823056 + Missense_Mutation SNP G G T rs3027482 byCluster;byFrequency;byHapMap;by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004979.4 -1 reviewed p.L466I 0.792 37 0% 42 26.2% 0 - possibly_damaging(0.942) tolerated(0.22) neutral(0.429) NULL KCND1 3750 genome.wustl.edu 37 X 48823365 48823365 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004979.4 -1 reviewed p.R424C 1.000 46 0% 54 25.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Voltage-gated potassium channels GRIPAP1 56850 genome.wustl.edu 37 X 48847109 48847109 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020137.3 -1 reviewed p.E226 0.997 88 0% 113 33.6% 17 0% - - - NULL TFE3 7030 genome.wustl.edu 37 X 48887741 48887741 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006521.4 -1 reviewed p.L552 0.986 41 0% 52 46.2% 16 0% - - - NULL SYP 6855 genome.wustl.edu 37 X 49049762 49049762 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000472598 -1 known p.E84G 1.000 52 0% 33 39.4% 1 0% - - - HMMPfam_MARVEL CACNA1F 778 genome.wustl.edu 37 X 49063526 49063526 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005183.2 -1 reviewed p.S1735Y 0.466 8 0.000 14 0.429 0 - benign(0.093) deleterious(0.01) neutral(0.413) NULL CACNA1F 778 genome.wustl.edu 37 X 49066121 49066121 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005183.2 -1 reviewed p.D1608N 0.867 21 0% 19 47.4% 0 - benign(0.02) tolerated(0.41) neutral(0.016) HMMPfam_Ca_chan_IQ CACNA1F 778 genome.wustl.edu 37 X 49068730 49068730 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005183.2 -1 reviewed p.F1338L 1.000 26 0% 40 30% 0 - benign(0.4) deleterious(0) deleterious(0.573) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1F 778 genome.wustl.edu 37 X 49086968 49086968 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005183.2 -1 reviewed p.R209W 1.000 17 0% 17 58.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels MIR500A 574502 genome.wustl.edu 37 X 49773055 49773055 + RNA SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000385051 +1 known NULL 0.989 448 0% 556 43% 0 - - - - - CLCN5 1184 genome.wustl.edu 37 X 49840522 49840522 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127898.1 +1 reviewed p.G163E 0.983 286 0% 317 32.8% 0 - benign(0.001) tolerated(0.05) neutral(0.345) superfamily_Clc chloride channel CLCN5 1184 genome.wustl.edu 37 X 49850639 49850639 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127898.1 +1 reviewed p.V312 0.814 232 0% 219 28.3% 3 0% - - - HMMPfam_Voltage_CLC,superfamily_Clc chloride channel CLCN5 1184 genome.wustl.edu 37 X 49855488 49855488 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001127898.1 +1 reviewed p.V769I 0.982 183 0% 167 23.4% 1 100% benign(0.141) deleterious(0) neutral(0.457) HMMPfam_CBS,HMMSmart_SM00116,superfamily_CBS-domain AKAP4 8852 genome.wustl.edu 37 X 49958573 49958573 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003886.2 -1 reviewed p.R264Q 0.604 268 0% 271 27.3% 0 - probably_damaging(0.994) tolerated(0.13) deleterious(0.705) HMMPfam_AKAP_110,HMMSmart_SM00807 AKAP4 8852 genome.wustl.edu 37 X 49958690 49958690 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003886.2 -1 reviewed p.S225F 0.772 469 0% 456 26.5% 0 - possibly_damaging(0.805) deleterious(0) deleterious(0.748) HMMPfam_RII_binding_1,HMMSmart_SM00807 CCNB3 85417 genome.wustl.edu 37 X 50052667 50052667 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033031.2 +1 reviewed p.T500A 0.000 144 0% 157 26.8% 0 - possibly_damaging(0.568) deleterious(0.02) deleterious(0.578) NULL CCNB3 85417 genome.wustl.edu 37 X 50052800 50052800 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033031.2 +1 reviewed p.S544F 0.000 117 0% 113 29.2% 0 - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL BMP15 9210 genome.wustl.edu 37 X 50659106 50659106 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005448.2 +1 reviewed p.S226 0.000 296 0% 227 35.7% 0 - - - - NULL NUDT11 55190 genome.wustl.edu 37 X 51238968 51238968 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000375992 -1 known p.S110L 0.992 163 0% 139 33.1% 0 - benign(0.253) deleterious(0) deleterious(0.471) HMMPfam_NUDIX,superfamily_NUDIX_hydrolase GSPT2 23708 genome.wustl.edu 37 X 51487450 51487450 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018094.4 +1 reviewed p.K243T 1.000 183 0.5% 158 31% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_GTP_EFTU,superfamily_SSF52540 ENSG00000245461 0 genome.wustl.edu 37 X 51488618 51488618 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000502175 -1 novel NULL 0.983 129 0% 113 31% 2 0% - - - - MAGED1 9500 genome.wustl.edu 37 X 51637810 51637810 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005333.1 +1 reviewed p.D45N 0.001 91 0% 75 42.7% 1 0% unknown(0) tolerated(0.27) - NULL MAGED1 9500 genome.wustl.edu 37 X 51643295 51643295 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001005333.1 +1 reviewed p.R677Q 1.000 90 0% 64 31.2% 209 0% unknown(0) tolerated(0.38) - HMMPfam_MAGE SSX7 280658 genome.wustl.edu 37 X 52682008 52682008 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173358.2 -1 reviewed p.F32L 0.059 510 0.2% 424 32.5% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_KRAB,superfamily_Krueppel-associated_box IQSEC2 23096 genome.wustl.edu 37 X 53267432 53267432 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001111125.1 -1 validated p.L1058I 1.000 71 0% 71 36.6% 4 0% possibly_damaging(0.78) deleterious(0) deleterious(0.736) HMMSmart_PH,superfamily_SSF50729 IQSEC2 23096 genome.wustl.edu 37 X 53279932 53279932 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001111125.1 -1 validated p.R609H 1.000 47 2.1% 51 41.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HUWE1 10075 genome.wustl.edu 37 X 53561531 53561531 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000427052 -1 known p.R3293* 1.000 172 0% 174 31% 121 0% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HUWE1 10075 genome.wustl.edu 37 X 53565301 53565301 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031407.4 -1 reviewed p.R3998H 1.000 62 0% 106 23.6% 61 0% unknown(0) deleterious(0) - NULL HUWE1 10075 genome.wustl.edu 37 X 53571677 53571677 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031407.4 -1 reviewed p.P3699S 1.000 229 0% 213 30.5% 46 0% unknown(0) tolerated(0.45) - NULL HUWE1 10075 genome.wustl.edu 37 X 53585965 53585965 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031407.4 -1 reviewed p.L2658F 1.000 54 0% 74 29.7% 2 100% possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL HUWE1 10075 genome.wustl.edu 37 X 53595736 53595736 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000427052 -1 known p.W1241* 1.000 64 0% 64 28.1% 11 0% probably_damaging(0.998) tolerated(0.84) deleterious(0.475) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53610699 53610699 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031407.4 -1 reviewed p.R1780H 1.000 71 0% 89 34.8% 10 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53616665 53616665 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031407.4 -1 reviewed p.E1435* 1.000 83 0% 96 22.9% 1 0% - - - superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53652152 53652152 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000424562 -1 known p.P198S 1.000 218 0% 152 29.6% 4 0% - - - HMMPfam_DUF913 FAM120C 54954 genome.wustl.edu 37 X 54143174 54143174 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017848.4 -1 validated p.T706A 1.000 276 0% 269 29.7% 0 - possibly_damaging(0.873) tolerated(0.37) neutral(0.358) NULL FAM120C 54954 genome.wustl.edu 37 X 54185825 54185825 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017848.4 -1 validated p.F308 1.000 184 0% 254 26% 0 - - - - NULL ITIH6 347365 genome.wustl.edu 37 X 54784769 54784769 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198510.2 -1 reviewed p.R580C 0.077 103 0% 112 30.4% 0 - benign(0.02) deleterious(0.02) neutral(0.384) NULL TRO 7216 genome.wustl.edu 37 X 54950963 54950963 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039705.1 +1 reviewed p.R439Q 0.715 55 0% 59 30.5% 2 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL TRO 7216 genome.wustl.edu 37 X 54955294 54955294 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039705.1 +1 reviewed p.E713* 0.996 54 0% 84 32.1% 3 0% - - - NULL TRO 7216 genome.wustl.edu 37 X 54956514 54956514 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001039705.1 +1 reviewed p.F1119 0.000 152 0% 122 36.9% 2 0% - - - NULL ALAS2 212 genome.wustl.edu 37 X 55040033 55040033 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000032.4 -1 reviewed p.K496E 1.000 57 0% 88 27.3% 3 0% benign(0.253) tolerated(0.75) neutral(0.028) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases USP51 158880 genome.wustl.edu 37 X 55514203 55514203 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_201286.3 -1 validated p.F390 1.000 220 0% 133 33.1% 0 - - - - HMMPfam_UCH,superfamily_SSF54001 FOXR2 139628 genome.wustl.edu 37 X 55650316 55650316 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198451.3 +1 validated p.E58* 0.011 174 0% 183 25.7% 0 - - - - NULL KLF8 11279 genome.wustl.edu 37 X 56291613 56291613 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007250.4 +1 reviewed p.V28I 0.678 89 0% 55 18.2% 0 - possibly_damaging(0.631) deleterious(0) deleterious(0.665) NULL KLF8 11279 genome.wustl.edu 37 X 56296717 56296717 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007250.4 +1 reviewed p.K287N 1.000 184 0% 138 26.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 UBQLN2 29978 genome.wustl.edu 37 X 56590894 56590894 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013444.3 +1 reviewed p.S196 0.989 129 0% 132 28.8% 22 0% - - - HMMSmart_SM00727 SPIN3 169981 genome.wustl.edu 37 X 57020734 57020734 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001010862.2 -1 validated p.Y216C 1.000 171 0% 172 35.5% 0 - benign(0.033) tolerated(0.13) neutral(0.254) HMMPfam_Spin-Ssty SPIN2B 474343 genome.wustl.edu 37 X 57146849 57146849 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001006681.1 -1 validated p.V72I 1.000 849 0.1% 743 20.5% 6 0% probably_damaging(0.964) tolerated(0.25) neutral(0.443) HMMPfam_Spin-Ssty SPIN2A 54466 genome.wustl.edu 37 X 57162432 57162432 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019003.3 -1 reviewed p.R200M 1.000 388 0% 409 26.2% 4 0% benign(0.001) tolerated(0.08) neutral(0.300) NULL FAAH2 158584 genome.wustl.edu 37 X 57358182 57358182 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174912.3 +1 reviewed p.K188N 0.963 251 0% 238 33.2% 11 0% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_Amidase,superfamily_Amidase signature (AS) enzymes FAAH2 158584 genome.wustl.edu 37 X 57515326 57515326 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_174912.3 +1 reviewed p.E520D 1.000 118 0% 137 22.6% 11 100% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Amidase signature (AS) enzymes ZXDA 7789 genome.wustl.edu 37 X 57935217 57935217 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007156.4 -1 reviewed p.P546 0.141 190 0% 149 29.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 ZXDA 7789 genome.wustl.edu 37 X 57935841 57935841 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007156.4 -1 reviewed p.G338 1.000 57 0% 41 29.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FAM123B 139285 genome.wustl.edu 37 X 63412689 63412689 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152424.3 -1 reviewed p.P160S 0.000 151 0% 155 29% 1 0% benign(0.071) tolerated(0.65) neutral(0.008) HMMPfam_WTX ASB12 142689 genome.wustl.edu 37 X 63444939 63444939 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_130388.2 -1 reviewed p.R189C 0.997 173 0% 185 28.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK LAS1L 81887 genome.wustl.edu 37 X 64749109 64749109 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031206.4 -1 validated p.E277K 0.996 171 0% 150 29.3% 26 76.9% probably_damaging(0.99) tolerated(0.17) deleterious(0.500) NULL LAS1L 81887 genome.wustl.edu 37 X 64749713 64749713 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031206.4 -1 validated p.R187H 0.993 222 0.5% 202 20.3% 17 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Las1 LAS1L 81887 genome.wustl.edu 37 X 64751307 64751307 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031206.4 -1 validated p.P148 0.095 271 0% 257 9.7% 22 31.8% - - - HMMPfam_Las1 MSN 4478 genome.wustl.edu 37 X 64959670 64959670 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002444.2 +1 reviewed p.R550Q 0.997 576 0% 523 31.4% 153 0.6% benign(0.169) tolerated(0.09) neutral(0.312) superfamily_Moesin,HMMPfam_ERM MSN 4478 genome.wustl.edu 37 X 64959738 64959738 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002444.2 +1 reviewed p.E573K 1.000 614 0.2% 524 34.9% 147 0% benign(0.19) tolerated(0.16) neutral(0.077) superfamily_Moesin,HMMPfam_ERM HEPH 9843 genome.wustl.edu 37 X 65474881 65474881 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138737.3 +1 reviewed p.E859D 0.529 126 0% 137 25.5% 8 0% benign(0.017) tolerated(0.14) neutral(0.250) superfamily_Cupredoxins LOC100129144 100129144 genome.wustl.edu 37 X 66594361 66594361 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001721427.1 +1 model p.E132* 0.011 124 0% 86 32.6% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100129144 100129144 genome.wustl.edu 37 X 66594761 66594761 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001721427.1 +1 model p.R265I 1.000 55 0% 43 27.9% 0 - - - - superfamily_C2H2 and C2HC zinc fingers OPHN1 4983 genome.wustl.edu 37 X 67518844 67518844 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002547.2 -1 reviewed p.I83 0.986 166 0% 133 29.3% 0 - - - - NULL OPHN1 4983 genome.wustl.edu 37 X 67518932 67518932 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002547.2 -1 reviewed p.S54Y 0.999 169 0% 134 29.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL STARD8 9754 genome.wustl.edu 37 X 67939242 67939242 + Splice_Site SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142503.2 +1 reviewed e7+2 1.000 24 0% 31 25.8% 0 - - - - - PJA1 64219 genome.wustl.edu 37 X 68381995 68381995 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145119.3 -1 reviewed p.E363K 0.016 63 0% 81 28.4% 20 0% possibly_damaging(0.942) tolerated(0.56) neutral(0.394) NULL PJA1 64219 genome.wustl.edu 37 X 68382828 68382828 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145119.3 -1 reviewed p.S85L 0.009 101 0% 84 20.2% 11 0% probably_damaging(0.978) tolerated(1) neutral(0.420) NULL AWAT2 158835 genome.wustl.edu 37 X 69261772 69261772 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002254.1 -1 reviewed p.S296 0.261 148 0% 127 20.5% 0 - - - - HMMPfam_DAGAT AWAT2 158835 genome.wustl.edu 37 X 69263838 69263838 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002254.1 -1 reviewed p.R69W 0.006 18 0% 19 31.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGAT DGAT2L6 347516 genome.wustl.edu 37 X 69424209 69424209 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198512.1 +1 provisional p.E234D 0.998 84 0% 81 29.6% 0 - benign(0.005) tolerated(0.08) neutral(0.300) HMMPfam_DAGAT P2RY4 5030 genome.wustl.edu 37 X 69478534 69478534 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002565.3 -1 reviewed p.R314Q 1.000 137 0% 120 35.8% 0 - probably_damaging(0.996) tolerated(0.05) deleterious(0.807) superfamily_SSF81321 ARR3 407 genome.wustl.edu 37 X 69489988 69489988 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004312.2 +1 validated p.R47* 0.999 233 0% 203 29.6% 0 - - - - HMMPfam_Arrestin_N,superfamily_E set domains RAB41 347517 genome.wustl.edu 37 X 69504449 69504449 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001032726.2 +1 reviewed p.E209K 0.108 158 0% 209 25.8% 0 - benign(0) tolerated(1) - HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF4A 24137 genome.wustl.edu 37 X 69561670 69561670 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012310.4 +1 reviewed p.L385 0.018 162 0% 167 34.1% 5 0% - - - NULL KIF4A 24137 genome.wustl.edu 37 X 69594031 69594031 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012310.4 +1 reviewed p.I569V 0.663 134 0% 122 26.2% 18 100% benign(0) tolerated(0.28) neutral(0.032) NULL KIF4A 24137 genome.wustl.edu 37 X 69623869 69623869 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012310.4 +1 reviewed p.Q925 0.991 107 0% 70 12.9% 20 0% - - - NULL TEX11 56159 genome.wustl.edu 37 X 69964064 69964064 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003811.1 -1 reviewed p.S248I 1.000 33 0% 24 37.5% 0 - benign(0.278) deleterious(0) deleterious(0.475) HMMPfam_SPO22,superfamily_TPR-like TEX11 56159 genome.wustl.edu 37 X 70072969 70072969 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001003811.1 -1 reviewed p.R162M 0.000 75 0% 75 30.7% 0 - possibly_damaging(0.649) tolerated(0.09) deleterious(0.524) superfamily_TPR-like SLC7A3 84889 genome.wustl.edu 37 X 70149630 70149630 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001048164.2 -1 reviewed p.A73V 1.000 53 0% 48 39.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease SNX12 29934 genome.wustl.edu 37 X 70281749 70281749 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013346.2 -1 reviewed p.I110 0.997 78 0% 77 28.6% 36 0% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain SNX12 29934 genome.wustl.edu 37 X 70288024 70288024 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_013346.2 -1 reviewed p.A45T 1.000 16 0% 20 25% 15 0% benign(0) tolerated(0.45) neutral(0.012) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain FOXO4 4303 genome.wustl.edu 37 X 70321485 70321485 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005938.3 +1 reviewed p.D469Y 1.000 229 0% 207 35.7% 6 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL MED12 9968 genome.wustl.edu 37 X 70347831 70347831 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005120.2 +1 reviewed p.D1024N 1.000 169 0% 161 28% 3 100% probably_damaging(0.979) deleterious(0.03) deleterious(0.786) NULL MED12 9968 genome.wustl.edu 37 X 70347916 70347916 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005120.2 +1 reviewed p.S1052I 1.000 192 0% 203 36.5% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MED12 9968 genome.wustl.edu 37 X 70357764 70357764 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000444034 +1 known p.P201H 1.000 106 0% 90 26.7% 33 0% - - - NULL NLGN3 54413 genome.wustl.edu 37 X 70367945 70367945 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018977.3 +1 reviewed p.E116K 1.000 80 0% 79 29.1% 0 - benign(0.009) tolerated(0.25) neutral(0.037) HMMPfam_COesterase,superfamily_SSF53474 ZMYM3 9203 genome.wustl.edu 37 X 70465883 70465883 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005096.3 -1 reviewed p.H880Y 1.000 259 0% 241 31.1% 11 0% benign(0.176) tolerated(0.22) neutral(0.058) NULL ZMYM3 9203 genome.wustl.edu 37 X 70469431 70469431 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005096.3 -1 reviewed p.C450 1.000 90 0% 73 24.7% 19 0% - - - HMMPfam_zf-FCS NONO 4841 genome.wustl.edu 37 X 70511692 70511692 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145408.1 +1 reviewed p.R73Q 0.995 107 0% 139 20.9% 253 0% probably_damaging(0.984) deleterious(0) deleterious(0.875) superfamily_RNA-binding domain RBD NONO 4841 genome.wustl.edu 37 X 70514147 70514147 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145408.1 +1 reviewed p.R140H 1.000 125 0% 120 31.7% 324 0.6% benign(0.026) deleterious(0) neutral(0.446) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NONO 4841 genome.wustl.edu 37 X 70517750 70517750 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001145408.1 +1 reviewed p.R365* 1.000 33 0% 37 37.8% 425 0% - - - NULL TAF1 6872 genome.wustl.edu 37 X 70602467 70602467 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004606.3 +1 reviewed p.R560Q 1.000 341 0% 335 27.8% 1 0% probably_damaging(0.976) tolerated(0.09) deleterious(0.714) NULL TAF1 6872 genome.wustl.edu 37 X 70608210 70608210 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004606.3 +1 reviewed p.A871T 1.000 265 0% 263 28.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAF1 6872 genome.wustl.edu 37 X 70621534 70621534 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004606.3 +1 reviewed p.E1335* 1.000 715 0% 598 32.6% 4 0% - - - NULL TAF1 6872 genome.wustl.edu 37 X 70679440 70679440 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004606.3 +1 reviewed p.E1721D 0.996 88 0% 72 25% 4 50% benign(0) tolerated(0.22) neutral(0.042) NULL OGT 8473 genome.wustl.edu 37 X 70757897 70757897 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181672.2 +1 reviewed p.Y146C 1.000 71 0% 78 37.2% 6 0% probably_damaging(1) tolerated(0.56) deleterious(0.506) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like OGT 8473 genome.wustl.edu 37 X 70767789 70767789 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000455587 +1 known p.R148Q 0.989 334 0% 348 36.2% 8 0% - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like OGT 8473 genome.wustl.edu 37 X 70776888 70776888 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_181672.2 +1 reviewed p.Y418C 1.000 131 0% 139 38.1% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like ACRC 93953 genome.wustl.edu 37 X 70823882 70823882 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052957.4 +1 validated p.S252L 0.010 486 0% 470 22.3% 1 0% unknown(0) deleterious(0.02) - NULL ACRC 93953 genome.wustl.edu 37 X 70825570 70825570 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_052957.4 +1 validated p.R486H 0.000 79 0% 63 34.9% 0 - benign(0.118) tolerated(0.31) neutral(0.036) NULL RPS4X 6191 genome.wustl.edu 37 X 71495440 71495440 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001007.4 -1 reviewed p.I72 0.853 140 0% 93 30.1% 3964 49% - - - HMMPfam_S4,HMMSmart_SM00363 HDAC8 55869 genome.wustl.edu 37 X 71684360 71684360 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000440442 -1 known p.F229C 0.002 229 0% 174 32.2% 0 - - - - NULL HDAC8 55869 genome.wustl.edu 37 X 71715034 71715034 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018486.2 -1 reviewed p.Y174 0.995 193 0% 131 9.9% 15 0% - - - HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase PHKA1 5255 genome.wustl.edu 37 X 71864321 71864321 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002637.3 -1 reviewed p.E450D 1.000 49 0% 57 36.8% 1 0% benign(0.004) tolerated(0.41) neutral(0.015) HMMPfam_PHK_AB NAP1L2 4674 genome.wustl.edu 37 X 72433164 72433164 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021963.2 -1 reviewed p.D389Y 0.985 289 0% 301 25.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAP NAP1L2 4674 genome.wustl.edu 37 X 72433579 72433579 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021963.2 -1 reviewed p.N250 0.280 231 0% 229 27.5% 0 - - - - HMMPfam_NAP NAP1L2 4674 genome.wustl.edu 37 X 72434283 72434283 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021963.2 -1 reviewed p.E16* 0.021 167 0% 154 23.4% 0 - - - - NULL CDX4 1046 genome.wustl.edu 37 X 72667418 72667418 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005193.1 +1 provisional p.S110L 0.114 54 0% 42 26.2% 0 - possibly_damaging(0.937) tolerated(0.09) deleterious(0.679) HMMPfam_Caudal_act BMP2KL 347359 genome.wustl.edu 37 X 73406255 73406255 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000414251 +1 known p.A165V 0.999 110 0% 75 10.7% 0 - - - - NULL BMP2KL 347359 genome.wustl.edu 37 X 73406519 73406519 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000373488 +1 known p.K255N 0.989 167 0% 151 31.8% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL RLIM 51132 genome.wustl.edu 37 X 73811846 73811846 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016120.3 -1 reviewed p.R435Q 0.226 193 1% 172 31.4% 7 85.7% benign(0.037) tolerated(0.54) neutral(0.009) NULL RLIM 51132 genome.wustl.edu 37 X 73815709 73815709 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016120.3 -1 reviewed p.F35C 1.000 103 1% 88 34.1% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA2022 340533 genome.wustl.edu 37 X 73960196 73960196 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001008537.2 -1 validated p.S1399N 1.000 439 0% 325 25.2% 0 - benign(0) deleterious(0) neutral(0.445) NULL ABCB7 22 genome.wustl.edu 37 X 74273295 74273295 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004299.3 -1 reviewed p.K724N 0.971 285 0% 218 31.2% 17 0% benign(0.012) deleterious(0.04) neutral(0.349) NULL ABCB7 22 genome.wustl.edu 37 X 74282221 74282221 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004299.3 -1 reviewed p.D627G 0.999 205 0% 140 27.9% 27 77.7% benign(0) tolerated(0.15) neutral(0.241) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_ABC_TM_1,superfamily_SSF52540 ABCB7 22 genome.wustl.edu 37 X 74334632 74334632 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004299.3 -1 reviewed p.R69I 0.014 69 0% 70 30% 6 0% benign(0) deleterious(0) neutral(0.445) NULL UPRT 139596 genome.wustl.edu 37 X 74494343 74494343 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145052.3 +1 reviewed p.S85N 0.002 48 0% 50 28% 8 87.5% benign(0.037) tolerated(0.17) neutral(0.061) NULL MAGEE2 139599 genome.wustl.edu 37 X 75003494 75003494 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138703.4 -1 validated p.L465I 0.280 205 0% 214 27.6% 0 - possibly_damaging(0.882) deleterious(0) deleterious(0.789) HMMPfam_MAGE MAGEE1 57692 genome.wustl.edu 37 X 75650129 75650129 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020932.2 +1 reviewed p.E602D 0.030 59 0% 42 38.1% 0 - benign(0.001) tolerated(0.68) neutral(0.002) HMMPfam_MAGE ATRX 546 genome.wustl.edu 37 X 76907774 76907774 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000489.3 -1 reviewed p.E1463K 1.000 807 0% 671 34.3% 2 0% benign(0.056) tolerated(0.52) neutral(0.012) superfamily_P-loop containing nucleoside triphosphate hydrolases ATP7A 538 genome.wustl.edu 37 X 77264620 77264620 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000052.4 +1 reviewed p.S577P 1.000 632 0.2% 593 29.2% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_HMA,superfamily_HMA heavy metal-associated domain,PatternScan_HMA_1 ATP7A 538 genome.wustl.edu 37 X 77289287 77289287 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000052.4 +1 reviewed p.S1160L 0.757 255 0% 222 33.8% 3 0% benign(0.104) tolerated(0.27) neutral(0.042) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M PGK1 5230 genome.wustl.edu 37 X 77372891 77372891 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000291.3 +1 reviewed p.G167D 1.000 103 0% 105 32.4% 356 0.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PGK,superfamily_Phosphoglycerate kinase TAF9B 51616 genome.wustl.edu 37 X 77387183 77387183 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015975.4 -1 reviewed p.S227L 1.000 465 0% 338 29.9% 6 83.3% possibly_damaging(0.626) deleterious(0.04) deleterious(0.567) NULL ZCCHC5 203430 genome.wustl.edu 37 X 77913482 77913482 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152694.2 -1 reviewed p.D146N 0.000 95 0% 94 34% 0 - benign(0.005) tolerated(0.14) neutral(0.249) NULL P2RY10 27334 genome.wustl.edu 37 X 78216809 78216809 + Silent SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014499.2 +1 reviewed p.I264 1.000 592 0.2% 556 31.8% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 GPR174 84636 genome.wustl.edu 37 X 78426628 78426628 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032553.1 +1 validated p.W42R 0.987 99 0% 118 22.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 GPR174 84636 genome.wustl.edu 37 X 78426848 78426848 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032553.1 +1 validated p.R115Q 0.967 252 0% 224 31.7% 5 0% benign(0.268) tolerated(0.95) neutral(0.029) HMMPfam_7tm_1,superfamily_SSF81321 GPR174 84636 genome.wustl.edu 37 X 78427403 78427403 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032553.1 +1 validated p.R300Q 1.000 222 0% 164 34.1% 0 - possibly_damaging(0.88) tolerated(0.82) neutral(0.344) superfamily_SSF81321 TBX22 50945 genome.wustl.edu 37 X 79278692 79278692 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001109878.1 +1 reviewed p.K103N 1.000 113 0% 87 24.1% 0 - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_1 FAM46D 169966 genome.wustl.edu 37 X 79698836 79698836 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152630.4 +1 validated p.F266L 0.998 189 0% 129 28.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DUF1693 BRWD3 254065 genome.wustl.edu 37 X 79936860 79936860 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153252.4 -1 reviewed p.R1545I 0.656 536 0% 431 30.4% 4 0% possibly_damaging(0.563) deleterious(0) deleterious(0.637) NULL BRWD3 254065 genome.wustl.edu 37 X 79942391 79942391 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153252.4 -1 reviewed p.R1326* 1.000 298 0% 219 29.2% 1 0% - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain BRWD3 254065 genome.wustl.edu 37 X 79952254 79952254 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153252.4 -1 reviewed p.E1018* 1.000 154 0% 132 22% 4 0% - - - NULL BRWD3 254065 genome.wustl.edu 37 X 79955511 79955511 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153252.4 -1 reviewed p.S963L 1.000 123 0% 98 23.5% 1 100% benign(0.085) tolerated(0.13) neutral(0.259) NULL BRWD3 254065 genome.wustl.edu 37 X 79990692 79990692 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153252.4 -1 reviewed p.R307C 1.000 146 0% 135 21.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase POU3F4 5456 genome.wustl.edu 37 X 82763943 82763943 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000307.3 +1 reviewed p.R204I 1.000 117 0% 102 42.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pou,HMMSmart_POU,PatternScan_POU_1,superfamily_Lambda_like_DNA CYLC1 1538 genome.wustl.edu 37 X 83128050 83128050 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021118.1 +1 provisional p.K112Q 0.002 170 0% 159 24.5% 0 - possibly_damaging(0.539) tolerated(0.4) neutral(0.199) NULL HDX 139324 genome.wustl.edu 37 X 83724149 83724149 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144657.4 -1 validated p.K194N 1.000 373 0% 311 30.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HDX 139324 genome.wustl.edu 37 X 83724485 83724485 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144657.4 -1 validated p.V82 0.998 205 0% 199 29.1% 0 - - - - NULL SATL1 340562 genome.wustl.edu 37 X 84362815 84362815 + Missense_Mutation SNP C C A rs189846946 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012980.2 -1 validated p.R200I 0.000 92 0% 93 32.3% 0 - probably_damaging(0.982) tolerated(0.14) deleterious(0.676) NULL ZNF711 7552 genome.wustl.edu 37 X 84525718 84525718 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021998.4 +1 reviewed p.K390N 1.000 74 0% 86 38.4% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF711 7552 genome.wustl.edu 37 X 84526417 84526417 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021998.4 +1 reviewed p.V623 0.886 135 0% 130 33.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CHM 1121 genome.wustl.edu 37 X 85212882 85212882 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000390.2 -1 reviewed p.E306D 0.931 216 0% 122 16.4% 2 0% benign(0.229) tolerated(0.17) neutral(0.082) HMMPfam_GDI,superfamily_SSF51905 CHM 1121 genome.wustl.edu 37 X 85213876 85213876 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000390.2 -1 reviewed p.R270Q 0.992 318 0% 198 31.8% 2 100% benign(0.076) tolerated(0.13) neutral(0.258) HMMPfam_GDI,superfamily_SSF51905 DACH2 117154 genome.wustl.edu 37 X 86069814 86069814 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053281.3 +1 reviewed p.D554G 0.999 140 0% 115 33% 0 - possibly_damaging(0.666) deleterious(0.03) deleterious(0.601) NULL DACH2 117154 genome.wustl.edu 37 X 86071063 86071063 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_053281.3 +1 reviewed p.E571K 1.000 100 0% 66 25.8% 0 - possibly_damaging(0.851) deleterious(0.01) deleterious(0.733) NULL KLHL4 56062 genome.wustl.edu 37 X 86868965 86868965 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_057162.2 +1 reviewed p.R170C 0.017 173 0% 144 30.6% 0 - benign(0.078) tolerated(0.16) neutral(0.065) superfamily_POZ domain KLHL4 56062 genome.wustl.edu 37 X 86873099 86873099 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_057162.2 +1 reviewed p.E298* 0.833 151 0% 129 31.8% 0 - - - - HMMPfam_BACK KLHL4 56062 genome.wustl.edu 37 X 86877313 86877313 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_057162.2 +1 reviewed p.E343* 1.000 188 0% 119 31.9% 0 - - - - HMMPfam_BACK CPXCR1 53336 genome.wustl.edu 37 X 88008976 88008976 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033048.5 +1 validated p.F187L 0.000 162 0% 138 35.5% 0 - benign(0.176) tolerated(1) neutral(0.016) NULL TGIF2LX 90316 genome.wustl.edu 37 X 89177147 89177147 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138960.3 +1 reviewed p.A21 0.000 131 0% 130 36.2% 0 - - - - NULL TGIF2LX 90316 genome.wustl.edu 37 X 89177330 89177330 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138960.3 +1 reviewed p.E82D 1.000 313 0% 229 24.9% 0 - probably_damaging(0.96) tolerated(0.11) deleterious(0.675) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like TGIF2LX 90316 genome.wustl.edu 37 X 89177571 89177571 + Missense_Mutation SNP C C G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138960.3 +1 reviewed p.P163A 0.000 113 0% 97 32% 0 - possibly_damaging(0.949) tolerated(0.06) deleterious(0.716) NULL NAP1L3 4675 genome.wustl.edu 37 X 92928265 92928265 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004538.4 -1 reviewed p.V13 0.284 71 0% 41 46.3% 0 - - - - NULL LOC643371 643371 genome.wustl.edu 37 X 93574786 93574786 + RNA SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_078596.1 +1 model NULL 1.000 34 0% 42 31% 0 - - - - - DIAPH2 1730 genome.wustl.edu 37 X 96136623 96136623 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006729.4 +1 reviewed p.E165* 1.000 75 0% 58 37.9% 0 - - - - HMMPfam_Drf_GBD DIAPH2 1730 genome.wustl.edu 37 X 96502803 96502803 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006729.4 +1 reviewed p.E937* 0.957 177 0% 159 37.1% 5 0% - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) PCDH19 57526 genome.wustl.edu 37 X 99657819 99657819 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105243.1 -1 reviewed p.K726N 1.000 113 0% 92 39.1% 19 100% possibly_damaging(0.922) tolerated(0.3) neutral(0.400) NULL PCDH19 57526 genome.wustl.edu 37 X 99662008 99662008 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105243.1 -1 reviewed p.E530K 1.000 76 1.3% 71 26.8% 19 0% probably_damaging(0.973) deleterious(0.05) deleterious(0.760) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH19 57526 genome.wustl.edu 37 X 99662108 99662108 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105243.1 -1 reviewed p.Q496H 1.000 52 0% 51 33.3% 11 0% benign(0.003) tolerated(0.29) neutral(0.029) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH19 57526 genome.wustl.edu 37 X 99662308 99662308 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105243.1 -1 reviewed p.V430M 0.386 64 0% 48 29.2% 7 0% benign(0.008) tolerated(0.19) neutral(0.050) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH19 57526 genome.wustl.edu 37 X 99663412 99663412 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001105243.1 -1 reviewed p.R62C 1.000 20 0% 12 33.3% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CA,HMMPfam_Cadherin_2,superfamily_Cadherin SRPX2 27286 genome.wustl.edu 37 X 99905860 99905860 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014467.2 +1 reviewed p.R54Q 0.506 97 0% 60 55% 10 0% probably_damaging(0.985) deleterious(0.04) deleterious(0.781) NULL NOX1 27035 genome.wustl.edu 37 X 100117726 100117726 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007052.4 -1 reviewed p.L141I 0.974 374 0% 390 26.9% 3 0% probably_damaging(0.995) tolerated(0.11) deleterious(0.729) HMMPfam_Ferric_reduct XKRX 402415 genome.wustl.edu 37 X 100170055 100170055 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_212559.2 -1 reviewed p.S221P 1.000 213 0% 203 35.5% 0 - possibly_damaging(0.733) tolerated(0.08) deleterious(0.568) NULL XKRX 402415 genome.wustl.edu 37 X 100183304 100183304 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_212559.2 -1 reviewed p.R10I 0.004 655 0% 560 30.2% 1 0% probably_damaging(0.976) - - NULL ARL13A 392509 genome.wustl.edu 37 X 100243396 100243396 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001012990.3 +1 validated p.K258N 0.915 70 0% 65 30.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CENPI 2491 genome.wustl.edu 37 X 100375733 100375733 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006733.2 +1 reviewed p.P216Q 1.000 261 0% 224 33.9% 4 0% benign(0.013) tolerated(0.1) neutral(0.287) HMMPfam_Mis6 CENPI 2491 genome.wustl.edu 37 X 100382138 100382138 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006733.2 +1 reviewed p.K263N 1.000 139 0% 154 31.8% 0 - benign(0.07) tolerated(0.38) neutral(0.023) HMMPfam_Mis6 DRP2 1821 genome.wustl.edu 37 X 100509438 100509438 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001939.2 +1 reviewed p.D668N 1.000 111 0% 60 25% 0 - possibly_damaging(0.807) deleterious(0) deleterious(0.748) NULL DRP2 1821 genome.wustl.edu 37 X 100515047 100515047 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001939.2 +1 reviewed p.E880K 0.999 542 0% 480 34.6% 0 - benign(0.141) tolerated(0.25) neutral(0.049) NULL TAF7L 54457 genome.wustl.edu 37 X 100547929 100547929 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024885.3 -1 reviewed p.V35 0.000 245 0% 248 30.2% 0 - - - - NULL HNRNPH2 3188 genome.wustl.edu 37 X 100667229 100667229 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001032393.1 +1 reviewed p.V85L 1.000 241 0% 246 30.1% 71 87.3% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMSmart_SM00360,superfamily_RNA-binding domain RBD HNRNPH2 3188 genome.wustl.edu 37 X 100667727 100667727 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001032393.1 +1 reviewed p.D251Y 0.288 183 0% 185 32.4% 43 0% possibly_damaging(0.903) tolerated(0.16) neutral(0.417) NULL ARMCX3 51566 genome.wustl.edu 37 X 100880687 100880687 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016607.3 +1 reviewed p.M240V 1.000 358 0% 406 30% 9 0% benign(0.017) tolerated(0.06) neutral(0.323) HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX2 9823 genome.wustl.edu 37 X 100912262 100912262 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014782.5 -1 reviewed p.A105T 0.006 126 0% 111 25.2% 0 - probably_damaging(0.955) tolerated(0.28) neutral(0.430) NULL NXF5 55998 genome.wustl.edu 37 X 101093352 101093352 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032946.2 -1 reviewed p.V256I 0.005 443 0% 435 26% 0 - benign(0.006) tolerated(0.82) neutral(0.001) superfamily_L domain-like ZMAT1 84460 genome.wustl.edu 37 X 101139682 101139682 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001011657.2 -1 reviewed p.K239N 0.000 326 0% 354 35.6% 0 - possibly_damaging(0.659) deleterious(0.02) deleterious(0.616) NULL TCEAL6 158931 genome.wustl.edu 37 X 101396126 101396126 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001006938.2 -1 validated p.L60M 0.000 339 0% 319 29.2% 0 - benign(0.422) tolerated(0.24) neutral(0.175) HMMPfam_TFA NXF2 56001 genome.wustl.edu 37 X 101572404 101572404 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017809.3 +1 reviewed p.T101M 0.001 982 0% 1023 13.3% 0 - benign(0.017) tolerated(0.34) neutral(0.024) NULL GPRASP1 9737 genome.wustl.edu 37 X 101911587 101911587 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099410.1 +1 reviewed p.E916* 0.442 504 0% 407 24.8% 1 0% - - - NULL GPRASP1 9737 genome.wustl.edu 37 X 101912839 101912839 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099410.1 +1 reviewed p.D1333G 0.970 357 0% 311 15.8% 1 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_DUF634,superfamily_ARM-type_fold GPRASP1 9737 genome.wustl.edu 37 X 101913021 101913021 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099410.1 +1 reviewed p.E1394* 0.003 155 0% 134 34.3% 0 - - - - NULL BHLHB9 80823 genome.wustl.edu 37 X 102004292 102004292 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001142524.1 +1 validated p.F123 0.001 277 0.4% 249 24.9% 0 - - - - NULL RAB40AL 282808 genome.wustl.edu 37 X 102192553 102192553 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031834.1 +1 reviewed p.E103K 1.000 390 0% 287 25.8% 0 - benign(0.023) deleterious(0.01) neutral(0.407) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 NXF3 56000 genome.wustl.edu 37 X 102334780 102334780 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000427570 -1 known p.L234F 1.000 205 0% 250 34.8% 0 - - - - HMMPfam_NTF2,superfamily_NTF2-like NXF3 56000 genome.wustl.edu 37 X 102337962 102337962 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022052.1 -1 reviewed p.L221I 0.694 643 0% 703 30.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RAB40A 142684 genome.wustl.edu 37 X 102754975 102754975 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080879.2 -1 reviewed p.R237Q 1.000 404 0% 305 29.8% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL RAB40A 142684 genome.wustl.edu 37 X 102755248 102755248 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080879.2 -1 reviewed p.E146G 1.000 185 0% 163 31.3% 0 - probably_damaging(0.997) tolerated(0.14) deleterious(0.716) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 PLP1 5354 genome.wustl.edu 37 X 103041575 103041575 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000533.3 +1 reviewed p.G125S 1.000 246 0% 177 29.4% 0 - benign(0.026) tolerated(0.48) neutral(0.011) HMMPfam_Myelin_PLP RAB9B 51209 genome.wustl.edu 37 X 103080498 103080498 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016370.2 -1 reviewed p.R73G 1.000 233 0% 228 35.1% 0 - probably_damaging(1) tolerated(1) deleterious(0.500) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 RAB9B 51209 genome.wustl.edu 37 X 103080650 103080650 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016370.2 -1 reviewed p.S22L 1.000 334 0% 283 36.7% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 H2BFWT 158983 genome.wustl.edu 37 X 103268190 103268190 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001002916.3 -1 reviewed p.A15T 0.000 27 0% 32 25% 0 - possibly_damaging(0.477) tolerated(0.38) neutral(0.175) NULL ZCCHC18 644353 genome.wustl.edu 37 X 103359612 103359612 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001143978.1 +1 provisional p.D270E 0.004 99 0% 81 23.5% 0 - - - - NULL IL1RAPL2 26280 genome.wustl.edu 37 X 104999323 104999323 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017416.1 +1 reviewed p.D449Y 1.000 332 0% 323 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain IL1RAPL2 26280 genome.wustl.edu 37 X 105011595 105011595 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017416.1 +1 reviewed p.N668D 1.000 287 0% 287 26.8% 0 - benign(0.4) deleterious(0) deleterious(0.573) NULL NRK 203447 genome.wustl.edu 37 X 105197083 105197083 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198465.2 +1 validated p.S1524Y 1.000 74 0% 50 28% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CNH,HMMSmart_SM00036 SERPINA7 6906 genome.wustl.edu 37 X 105280636 105280636 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000354.5 -1 reviewed p.K138N 0.000 376 0% 319 29.5% 0 - probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin MUM1L1 139221 genome.wustl.edu 37 X 105450191 105450191 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000337685 +1 known p.E256K 0.908 88 0% 86 30.2% 0 - possibly_damaging(0.844) tolerated(0.28) neutral(0.355) NULL MUM1L1 139221 genome.wustl.edu 37 X 105451313 105451313 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000337685 +1 known p.D630Y 0.673 62 0% 57 21.1% 0 - possibly_damaging(0.597) deleterious(0.04) deleterious(0.555) NULL CXorf57 55086 genome.wustl.edu 37 X 105855604 105855604 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018015.5 +1 validated p.T98 0.004 246 0% 249 34.9% 0 - - - - NULL CXorf57 55086 genome.wustl.edu 37 X 105855826 105855826 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018015.5 +1 validated p.A172 0.056 320 0% 294 25.9% 0 - - - - NULL CXorf57 55086 genome.wustl.edu 37 X 105868322 105868322 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018015.5 +1 validated p.T263 0.997 148 0% 131 31.3% 0 - - - - superfamily_Nucleic acid-binding proteins CXorf57 55086 genome.wustl.edu 37 X 105876236 105876236 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018015.5 +1 validated p.Q388R 0.999 324 0% 280 25.7% 0 - possibly_damaging(0.941) tolerated(0.37) neutral(0.406) NULL CXorf57 55086 genome.wustl.edu 37 X 105905327 105905327 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018015.5 +1 validated p.E687D 0.069 169 0% 148 35.8% 0 - benign(0) tolerated(0.55) neutral(0.007) NULL CXorf57 55086 genome.wustl.edu 37 X 105921476 105921476 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018015.5 +1 validated p.E852D 0.000 98 0% 77 37.7% 0 - benign(0) tolerated(0.17) neutral(0.059) NULL TBC1D8B 54885 genome.wustl.edu 37 X 106091525 106091525 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017752.2 +1 validated p.R610Q 1.000 332 0% 260 31.9% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D8B 54885 genome.wustl.edu 37 X 106109163 106109163 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000431860 +1 known p.S117P 0.630 479 0% 342 30.4% 0 - - - - superfamily_EF-hand TBC1D8B 54885 genome.wustl.edu 37 X 106109245 106109245 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017752.2 +1 validated p.E882* 1.000 315 0% 260 35% 0 - - - - superfamily_EF-hand MORC4 79710 genome.wustl.edu 37 X 106186104 106186104 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_024657.4 -1 reviewed p.E673* 0.914 620 0% 576 29.3% 2 0% - - - NULL RBM41 55285 genome.wustl.edu 37 X 106359130 106359130 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018301.3 -1 validated p.E94* 1.000 455 0% 371 29.6% 1 0% - - - NULL CXorf41 139212 genome.wustl.edu 37 X 106486502 106486502 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173494.1 +1 validated p.E207* 0.998 294 0.3% 233 31.3% 0 - - - - NULL FRMPD3 84443 genome.wustl.edu 37 X 106797668 106797668 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_042978.6 +1 model p.F265L 1.000 57 0% 45 15.6% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) superfamily_FERM_3-hlx,HMMSmart_B41 TSC22D3 1831 genome.wustl.edu 37 X 106957842 106957842 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_198057.2 -1 reviewed p.E170D 1.000 283 0% 211 13.7% 22 0% possibly_damaging(0.685) tolerated(0.12) deleterious(0.505) HMMPfam_TSC22 TSC22D3 1831 genome.wustl.edu 37 X 106959936 106959936 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004089.3 -1 reviewed p.V36I 1.000 46 0% 34 44.1% 9 0% possibly_damaging(0.77) tolerated(0.11) deleterious(0.557) NULL MID2 11043 genome.wustl.edu 37 X 107169955 107169955 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012216.3 +1 reviewed p.K620 1.000 188 0% 254 34.6% 2 0% - - - HMMPfam_SPRY,HMMSmart_SM00449 VSIG1 340547 genome.wustl.edu 37 X 107319387 107319387 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182607.4 +1 reviewed p.A257T 0.005 445 0% 421 13.3% 0 - possibly_damaging(0.692) tolerated(0.49) neutral(0.258) NULL COL4A6 1288 genome.wustl.edu 37 X 107420182 107420182 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001847.2 -1 reviewed p.K860E 0.996 237 0% 251 26.7% 0 - probably_damaging(0.975) tolerated(0.1) deleterious(0.704) NULL COL4A6 1288 genome.wustl.edu 37 X 107422483 107422483 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001847.2 -1 reviewed p.G774* 1.000 191 0% 169 24.3% 1 0% - - - HMMPfam_Collagen COL4A6 1288 genome.wustl.edu 37 X 107430347 107430347 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001847.2 -1 reviewed p.Q645* 0.047 753 0% 639 29.9% 0 - - - - HMMPfam_Collagen COL4A6 1288 genome.wustl.edu 37 X 107462953 107462953 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001847.2 -1 reviewed p.G101D 1.000 612 0% 529 28.2% 0 - unknown(0) deleterious(0.01) - HMMPfam_Collagen COL4A6 1288 genome.wustl.edu 37 X 107464500 107464500 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001847.2 -1 reviewed p.L84 0.262 276 0% 241 32.8% 0 - - - - HMMPfam_Collagen COL4A5 1287 genome.wustl.edu 37 X 107821570 107821570 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033380.1 +1 reviewed p.E246G 1.000 206 0% 208 32.7% 0 - unknown(0) tolerated(0.39) - NULL COL4A5 1287 genome.wustl.edu 37 X 107841957 107841957 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033380.1 +1 reviewed p.R602I 1.000 382 0% 299 29.4% 0 - unknown(0) deleterious(0.05) - HMMPfam_Collagen COL4A5 1287 genome.wustl.edu 37 X 107925043 107925043 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033380.1 +1 reviewed p.A1381S 0.049 218 0% 234 35.9% 0 - benign(0.02) tolerated(0.77) neutral(0.002) NULL COL4A5 1287 genome.wustl.edu 37 X 107938584 107938584 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033380.1 +1 reviewed p.E1637K 1.000 296 0.7% 291 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold COL4A5 1287 genome.wustl.edu 37 X 107939580 107939580 + Missense_Mutation SNP G G A rs104886308 byCluster TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033380.1 +1 reviewed p.R1683Q 1.000 338 0% 286 25.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold IRS4 8471 genome.wustl.edu 37 X 107975897 107975897 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003604.2 -1 reviewed p.P1226 0.006 91 0% 75 41.3% 0 - - - - NULL IRS4 8471 genome.wustl.edu 37 X 107977579 107977579 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003604.2 -1 reviewed p.E666* 0.984 403 0.2% 274 35% 0 - - - - NULL GUCY2F 2986 genome.wustl.edu 37 X 108652274 108652274 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001522.2 -1 reviewed p.D639Y 1.000 370 0% 357 24.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) GUCY2F 2986 genome.wustl.edu 37 X 108691390 108691390 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001522.2 -1 reviewed p.R493C 0.300 158 0% 107 30.8% 0 - possibly_damaging(0.729) deleterious(0.04) deleterious(0.615) NULL GUCY2F 2986 genome.wustl.edu 37 X 108718889 108718889 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001522.2 -1 reviewed p.Y93H 0.010 325 0% 366 32.2% 0 - benign(0) tolerated(0.52) neutral(0.009) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ACSL4 2182 genome.wustl.edu 37 X 108906587 108906587 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022977.2 -1 reviewed p.V520I 0.760 715 0% 518 29.5% 7 71.4% benign(0) tolerated(0.14) neutral(0.249) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSL4 2182 genome.wustl.edu 37 X 108924260 108924260 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_022977.2 -1 reviewed p.S249A 0.990 331 0% 259 25.1% 2 0% benign(0) tolerated(0.67) neutral(0.003) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like TMEM164 84187 genome.wustl.edu 37 X 109310616 109310616 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032227.3 +1 validated p.V144 0.001 336 0.3% 248 23.8% 14 0% - - - NULL TMEM164 84187 genome.wustl.edu 37 X 109414697 109414697 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032227.3 +1 validated p.S212 0.584 1344 0% 1002 29.2% 12 0% - - - NULL RGAG1 57529 genome.wustl.edu 37 X 109695548 109695548 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020769.2 +1 validated p.K568T 0.228 539 0% 419 26% 0 - benign(0.013) tolerated(0.25) neutral(0.037) NULL RGAG1 57529 genome.wustl.edu 37 X 109696562 109696562 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020769.2 +1 validated p.A906V 0.000 696 0.1% 470 31.9% 0 - benign(0.001) tolerated(0.34) neutral(0.023) NULL RGAG1 57529 genome.wustl.edu 37 X 109696621 109696621 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020769.2 +1 validated p.E926* 0.221 596 0% 463 32% 0 - - - - NULL PAK3 5063 genome.wustl.edu 37 X 110388119 110388119 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128168.1 +1 reviewed p.T103M 1.000 43 0% 42 23.8% 0 - benign(0.298) deleterious(0.02) deleterious(0.475) HMMPfam_PBD,HMMSmart_PBD PAK3 5063 genome.wustl.edu 37 X 110416274 110416274 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128168.1 +1 reviewed p.K301N 1.000 159 0% 103 30.1% 0 - benign(0.002) tolerated(0.29) neutral(0.029) superfamily_Kinase_like PAK3 5063 genome.wustl.edu 37 X 110435814 110435814 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128168.1 +1 reviewed p.N356 1.000 184 0% 187 25.7% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PAK3 5063 genome.wustl.edu 37 X 110439732 110439732 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001128168.1 +1 reviewed p.G460E 1.000 383 0% 337 28.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CAPN6 827 genome.wustl.edu 37 X 110507159 110507159 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014289.3 -1 reviewed p.G2 0.999 266 0% 196 25% 0 - - - - NULL LOC100288324 100288324 genome.wustl.edu 37 X 110644440 110644440 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343839.1 +1 model p.G135* 1.000 242 0% 241 32% 0 - - - - NULL DCX 1641 genome.wustl.edu 37 X 110653395 110653395 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000555.2 -1 reviewed p.R159C 1.000 520 0.4% 537 33.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DCX,HMMSmart_SM00537,superfamily_Doublecortin (DC) ALG13 79868 genome.wustl.edu 37 X 110951614 110951614 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000394780 +1 known p.S248L 0.999 372 0% 470 35.3% 1 0% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_OTU,superfamily_SSF54001 ALG13 79868 genome.wustl.edu 37 X 110961417 110961417 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000394780 +1 known p.R389* 1.000 17 0% 13 53.8% 0 - - - - NULL ALG13 79868 genome.wustl.edu 37 X 111003159 111003159 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000394780 +1 known p.N1116H 1.000 71 0% 74 33.8% 1 0% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL TRPC5 7224 genome.wustl.edu 37 X 111097276 111097276 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012471.2 -1 reviewed p.P320H 1.000 92 0% 140 24.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRPC5 7224 genome.wustl.edu 37 X 111195413 111195413 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012471.2 -1 reviewed p.E79G 1.000 525 0% 458 35.6% 0 - benign(0.315) tolerated(0.21) neutral(0.143) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat AMOT 154796 genome.wustl.edu 37 X 112022766 112022766 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001113490.1 -1 reviewed p.S872 0.001 55 0% 30 23.3% 9 100% - - - NULL HTR2C 3358 genome.wustl.edu 37 X 114082611 114082611 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000868.2 +1 reviewed p.S132Y 0.992 401 0% 212 30.7% 0 - benign(0.01) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_SSF81321 HTR2C 3358 genome.wustl.edu 37 X 114082667 114082667 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000868.2 +1 reviewed p.D151Y 1.000 322 0% 178 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 HTR2C 3358 genome.wustl.edu 37 X 114141930 114141930 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000868.2 +1 reviewed p.L443 0.000 256 0% 253 26.1% 0 - - - - NULL LRCH2 57631 genome.wustl.edu 37 X 114361427 114361427 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020871.3 -1 validated p.T590 1.000 7 0.000 15 0.467 0 - - - - NULL LRCH2 57631 genome.wustl.edu 37 X 114422820 114422820 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020871.3 -1 validated p.N155H 1.000 25 0% 24 29.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_LRR_1,superfamily_SSF52058 LUZP4 51213 genome.wustl.edu 37 X 114541203 114541203 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016383.3 +1 validated p.L259R 0.000 521 0% 424 23.8% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL PLS3 5358 genome.wustl.edu 37 X 114880496 114880496 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001136025.3 +1 reviewed p.N456S 1.000 98 0% 97 29.9% 19 5.2% possibly_damaging(0.671) tolerated(0.55) neutral(0.245) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain AGTR2 186 genome.wustl.edu 37 X 115304368 115304368 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000686.4 +1 reviewed p.D279N 1.000 309 0% 204 33.3% 0 - possibly_damaging(0.739) deleterious(0) deleterious(0.715) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KLHL13 90293 genome.wustl.edu 37 X 117033084 117033084 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033495.3 -1 reviewed p.F585 1.000 443 0% 455 12.3% 4 0% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHL13 90293 genome.wustl.edu 37 X 117033288 117033288 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_033495.3 -1 reviewed p.Q517H 1.000 619 0% 505 36.8% 0 - benign(0.01) tolerated(0.5) neutral(0.011) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain WDR44 54521 genome.wustl.edu 37 X 117528090 117528090 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019045.4 +1 reviewed p.S300Y 1.000 318 0% 258 14.3% 2 0% possibly_damaging(0.687) tolerated(0.16) neutral(0.305) superfamily_WD40 repeat-like DOCK11 139818 genome.wustl.edu 37 X 117679322 117679322 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144658.3 +1 validated p.V143 0.377 111 0% 95 25.3% 2 0% - - - NULL DOCK11 139818 genome.wustl.edu 37 X 117805040 117805040 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144658.3 +1 validated p.R1711C 1.000 203 0% 195 29.2% 1 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL DOCK11 139818 genome.wustl.edu 37 X 117814501 117814501 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144658.3 +1 validated p.K1839 0.997 263 0% 229 34.5% 1 0% - - - NULL LONRF3 79836 genome.wustl.edu 37 X 118145893 118145893 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001031855.1 +1 reviewed p.G590S 1.000 129 0.8% 105 23.8% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_LON,HMMSmart_SM00464 LOC727838 727838 genome.wustl.edu 37 X 118207945 118207945 + Missense_Mutation SNP G G A rs188327284 by1000genomes TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343842.1 +1 model p.A223T 0.000 241 0% 155 36.8% 0 - - - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118223340 118223340 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020721.1 -1 validated p.G618E 0.000 236 0% 180 30% 0 - possibly_damaging(0.764) tolerated(0.06) deleterious(0.606) NULL KIAA1210 57481 genome.wustl.edu 37 X 118230485 118230485 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020721.1 -1 validated p.R413H 0.060 130 0% 158 23.4% 0 - probably_damaging(0.998) - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118284277 118284277 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020721.1 -1 validated p.R89Q 0.000 39 0% 31 32.3% 0 - unknown(0) - - NULL SLC25A43 203427 genome.wustl.edu 37 X 118586925 118586925 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145305.2 +1 reviewed p.K308T 1.000 410 0% 375 29.9% 7 0% benign(0.021) tolerated(0.35) neutral(0.022) NULL UBE2A 7319 genome.wustl.edu 37 X 118716599 118716599 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003336.2 +1 reviewed p.S97I 1.000 153 0% 117 30.8% 64 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like NKRF 55922 genome.wustl.edu 37 X 118723549 118723549 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017544.3 -1 reviewed p.Y613 0.950 256 0% 247 26.7% 4 0% - - - HMMPfam_R3H,HMMSmart_SM00393,superfamily_R3H domain SEPT6 23157 genome.wustl.edu 37 X 118763403 118763403 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_015129.5 -1 reviewed p.K386N 1.000 197 0% 196 33.7% 13 0% possibly_damaging(0.745) deleterious(0) deleterious(0.718) NULL UPF3B 65109 genome.wustl.edu 37 X 118975045 118975045 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_080632.1 -1 reviewed p.K267N 1.000 183 0% 196 24% 8 0% unknown(0) tolerated(0.1) - NULL RNF113A 7737 genome.wustl.edu 37 X 119005121 119005121 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006978.2 -1 reviewed p.I152 1.000 437 0% 483 31.1% 25 16% - - - NULL RHOXF2B 727940 genome.wustl.edu 37 X 119211125 119211125 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099685.1 -1 provisional p.E70* 0.001 107 0% 109 22% 0 - - - - NULL ZBTB33 10009 genome.wustl.edu 37 X 119389157 119389157 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006777.3 +1 reviewed p.T629 0.483 241 0% 223 14.3% 9 0% - - - NULL FAM70A 55026 genome.wustl.edu 37 X 119419553 119419553 + Splice_Site SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017938.3 -1 validated e6-2 0.998 170 0% 193 26.9% 0 - - - - - LAMP2 3920 genome.wustl.edu 37 X 119565294 119565294 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002294.2 -1 reviewed p.D373N 1.000 394 0% 279 32.3% 253 0% probably_damaging(0.994) tolerated(0.5) neutral(0.462) HMMPfam_Lamp,PatternScan_LAMP_2 LAMP2 3920 genome.wustl.edu 37 X 119582916 119582916 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001122606.1 -1 reviewed p.S155R 0.276 232 0% 182 31.3% 264 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Lamp CUL4B 8450 genome.wustl.edu 37 X 119681008 119681008 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003588.3 -1 reviewed p.Q271 0.990 152 0% 165 27.9% 7 85.7% - - - HMMPfam_Cullin,superfamily_Cullin repeat GLUD2 2747 genome.wustl.edu 37 X 120181970 120181970 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012084.3 +1 reviewed p.T144 0.998 67 0% 67 35.8% 18 0% - - - HMMPfam_ELFV_dehydrog_N,superfamily_SSF53223 GLUD2 2747 genome.wustl.edu 37 X 120182660 120182660 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_012084.3 +1 reviewed p.V374 0.917 243 0.4% 203 28.6% 0 - - - - HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd LOC643421 643421 genome.wustl.edu 37 X 120997579 120997579 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343843.1 -1 model p.L120P 0.974 43 0% 27 37% 0 - - - - HMMPfam_TCTP,superfamily_Mss4-like MRRFP1 286423 genome.wustl.edu 37 X 122251115 122251115 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000435941 -1 known p.S165 0.998 339 0% 250 33.6% 0 - - - - HMMPfam_RRF,superfamily_Ribosome_recyc_fac MRRFP1 286423 genome.wustl.edu 37 X 122251339 122251339 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000435941 -1 known p.E91* 1.000 267 0% 174 14.9% 0 - - - - superfamily_Ribosome_recyc_fac MRRFP1 286423 genome.wustl.edu 37 X 122251584 122251584 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000435941 -1 known p.R9H 0.004 360 0% 220 31.8% 0 - benign(0.064) deleterious(0) neutral(0.449) NULL GRIA3 2892 genome.wustl.edu 37 X 122387348 122387348 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000264357 +1 known p.H155N 0.999 305 0% 318 27.4% 1 0% benign(0.006) deleterious(0.01) neutral(0.406) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIA3 2892 genome.wustl.edu 37 X 122561851 122561851 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000264357 +1 known p.S646Y 1.000 288 0% 242 31.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GRIA3 2892 genome.wustl.edu 37 X 122616784 122616784 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000828.4 +1 reviewed p.N858S 1.000 230 0% 210 33.3% 0 - - - - NULL THOC2 57187 genome.wustl.edu 37 X 122755243 122755243 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081550.1 -1 validated p.E1327D 0.997 633 0% 526 32.3% 10 0% benign(0.001) tolerated(0.37) neutral(0.019) NULL THOC2 57187 genome.wustl.edu 37 X 122769939 122769939 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081550.1 -1 validated p.A670V 1.000 166 0% 128 18.8% 4 0% benign(0.001) tolerated(0.13) neutral(0.253) NULL THOC2 57187 genome.wustl.edu 37 X 122805548 122805548 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081550.1 -1 validated p.L278R 1.000 241 0% 144 27.8% 5 0% possibly_damaging(0.808) deleterious(0) deleterious(0.748) NULL THOC2 57187 genome.wustl.edu 37 X 122829895 122829895 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081550.1 -1 validated p.L193 1.000 131 0% 85 27.1% 0 - - - - NULL THOC2 57187 genome.wustl.edu 37 X 122846751 122846751 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081550.1 -1 validated p.L27 1.000 53 0% 49 24.5% 6 0% - - - NULL STAG2 10735 genome.wustl.edu 37 X 123229296 123229296 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042749.1 +1 validated p.E1260 1.000 199 0% 212 29.7% 41 0% - - - NULL LOC100129231 100129231 genome.wustl.edu 37 X 123338605 123338605 + RNA SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XR_078598.1 -1 model NULL 1.000 30 0% 59 20.3% 0 - - - - - SH2D1A 4068 genome.wustl.edu 37 X 123505212 123505212 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002351.4 +1 reviewed p.D120N 0.949 296 0% 240 25% 0 - benign(0.328) tolerated(0.27) neutral(0.137) NULL ODZ1 10178 genome.wustl.edu 37 X 123514647 123514647 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014253.3 -1 reviewed p.V2639 0.993 364 0.3% 301 33.9% 0 - - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123518490 123518490 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014253.3 -1 reviewed p.V2090 0.947 220 0% 196 30.6% 0 - - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123519631 123519631 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014253.3 -1 reviewed p.D1984G 1.000 281 0% 284 29.9% 0 - possibly_damaging(0.922) tolerated(0.69) neutral(0.373) NULL ODZ1 10178 genome.wustl.edu 37 X 123615584 123615584 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014253.3 -1 reviewed p.R1309Q 1.000 175 0% 171 31.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF101898 ODZ1 10178 genome.wustl.edu 37 X 123630916 123630916 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014253.3 -1 reviewed p.F1215 0.999 211 0% 200 33% 0 - - - - superfamily_SSF101898 ODZ1 10178 genome.wustl.edu 37 X 123637512 123637512 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014253.3 -1 reviewed p.L1115I 1.000 567 0% 567 27.3% 0 - probably_damaging(0.97) tolerated(0.22) neutral(0.454) NULL ODZ1 10178 genome.wustl.edu 37 X 123680827 123680827 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014253.3 -1 reviewed p.L850I 0.964 177 0% 169 30.2% 0 - benign(0.016) tolerated(0.15) neutral(0.241) NULL ODZ1 10178 genome.wustl.edu 37 X 123785874 123785874 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014253.3 -1 reviewed p.S490L 0.782 250 0% 219 30.6% 0 - benign(0.089) tolerated(0.56) neutral(0.013) NULL ODZ1 10178 genome.wustl.edu 37 X 123839054 123839054 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_014253.3 -1 reviewed p.A275V 1.000 356 0% 345 29% 0 - possibly_damaging(0.659) deleterious(0.03) deleterious(0.597) HMMPfam_Ten_N DCAF12L2 340578 genome.wustl.edu 37 X 125298869 125298869 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001013628.2 -1 reviewed p.R347* 0.458 70 0% 75 34.7% 0 - - - - HMMSmart_WD40,superfamily_WD40_like DCAF12L1 139170 genome.wustl.edu 37 X 125685911 125685911 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_178470.4 -1 reviewed p.F227 0.003 30 0% 31 38.7% 0 - - - - superfamily_WD40_like SMARCA1 6594 genome.wustl.edu 37 X 128599549 128599549 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003069.3 -1 reviewed p.R993Q 1.000 368 0% 296 34.8% 26 30.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_SLIDE SMARCA1 6594 genome.wustl.edu 37 X 128632027 128632027 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003069.3 -1 reviewed p.K433N 1.000 175 0% 169 28.4% 14 0% possibly_damaging(0.748) deleterious(0) deleterious(0.719) HMMPfam_SNF2_N SMARCA1 6594 genome.wustl.edu 37 X 128641998 128641998 + Nonsense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003069.3 -1 reviewed p.E296* 1.000 125 0% 72 33.3% 4 0% - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases SMARCA1 6594 genome.wustl.edu 37 X 128650350 128650350 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003069.3 -1 reviewed p.R129Q 1.000 429 0.2% 368 29.6% 9 0% possibly_damaging(0.515) tolerated(0.22) neutral(0.215) superfamily_P-loop containing nucleoside triphosphate hydrolases OCRL 4952 genome.wustl.edu 37 X 128691369 128691369 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000276.3 +1 reviewed p.E102 0.742 249 0% 225 34.7% 3 0% - - - NULL OCRL 4952 genome.wustl.edu 37 X 128692902 128692902 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000276.3 +1 reviewed p.S216A 0.990 525 0% 476 29.4% 6 66.6% benign(0) tolerated(0.82) neutral(0.001) superfamily_DNase I-like XPNPEP2 7512 genome.wustl.edu 37 X 128889282 128889282 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003399.5 +1 reviewed p.F410L 0.974 251 0% 222 29.7% 1 0% possibly_damaging(0.623) tolerated(0.67) neutral(0.220) HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core XPNPEP2 7512 genome.wustl.edu 37 X 128896669 128896669 + Splice_Site SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003399.5 +1 reviewed e19-1 1.000 142 0% 122 27.9% 0 - - - - - SASH3 54440 genome.wustl.edu 37 X 128927086 128927086 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018990.3 +1 reviewed p.T308M 0.993 68 0% 70 30% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2 UTP14A 10813 genome.wustl.edu 37 X 129045084 129045084 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006649.3 +1 reviewed p.K113N 1.000 404 0% 386 32.1% 4 0% probably_damaging(0.985) deleterious(0.02) deleterious(0.815) HMMPfam_Utp14 BCORL1 63035 genome.wustl.edu 37 X 129148888 129148888 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021946.3 +1 reviewed p.P714T 1.000 128 0% 95 40% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AIFM1 9131 genome.wustl.edu 37 X 129283453 129283453 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004208.3 -1 reviewed p.A114T 0.000 151 0% 151 25.8% 64 0% benign(0) tolerated(0.59) neutral(0.004) NULL ZNF280C 55609 genome.wustl.edu 37 X 129360830 129360830 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017666.4 -1 validated p.R433I 0.999 260 0% 212 25.5% 4 0% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC25A14 9016 genome.wustl.edu 37 X 129480575 129480575 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003951.2 +1 reviewed p.D76A 1.000 342 0.3% 324 29.3% 1 100% probably_damaging(1) tolerated(0.69) deleterious(0.502) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SLC25A14 9016 genome.wustl.edu 37 X 129484645 129484645 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003951.2 +1 reviewed p.I146 1.000 243 0% 253 34.4% 7 0% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SLC25A14 9016 genome.wustl.edu 37 X 129498659 129498659 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003951.2 +1 reviewed p.Y218D 1.000 110 0% 100 35% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SLC25A14 9016 genome.wustl.edu 37 X 129499574 129499574 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003951.2 +1 reviewed p.R260Q 1.000 210 0% 225 34.7% 18 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SLC25A14 9016 genome.wustl.edu 37 X 129506885 129506885 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003951.2 +1 reviewed p.F313L 1.000 628 0% 623 34.7% 19 0% possibly_damaging(0.571) deleterious(0.02) deleterious(0.579) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ARHGAP36 158763 genome.wustl.edu 37 X 130217158 130217158 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144967.3 +1 validated p.P91 0.991 331 0% 210 27.1% 0 - - - - NULL ARHGAP36 158763 genome.wustl.edu 37 X 130220339 130220339 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_144967.3 +1 validated p.V440M 0.987 367 0% 301 29.6% 0 - probably_damaging(0.959) tolerated(0.16) neutral(0.462) NULL IGSF1 3547 genome.wustl.edu 37 X 130408141 130408141 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001555.4 -1 reviewed p.R1264Q 1.000 576 0% 545 33.6% 0 - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) NULL IGSF1 3547 genome.wustl.edu 37 X 130408833 130408833 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001555.4 -1 reviewed p.S1164F 0.990 593 0% 567 24.3% 0 - benign(0.048) tolerated(0.05) neutral(0.348) superfamily_Immunoglobulin IGSF1 3547 genome.wustl.edu 37 X 130411913 130411913 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001555.4 -1 reviewed p.G746D 1.000 176 0% 169 33.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin OR13H1 347468 genome.wustl.edu 37 X 130678305 130678305 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001004486.1 +1 provisional p.F86L 0.034 574 0.2% 545 32.8% 0 - benign(0.006) tolerated(0.9) - HMMPfam_7tm_1,superfamily_SSF81321 FRMD7 90167 genome.wustl.edu 37 X 131211912 131211912 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194277.2 -1 reviewed p.Y711* 1.000 206 0% 146 28.1% 0 - - - - NULL FRMD7 90167 genome.wustl.edu 37 X 131212206 131212206 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194277.2 -1 reviewed p.C613 1.000 259 0% 232 29.7% 0 - - - - NULL FRMD7 90167 genome.wustl.edu 37 X 131212887 131212887 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_194277.2 -1 reviewed p.E386 1.000 486 0% 367 12.8% 0 - - - - NULL RAP2C 57826 genome.wustl.edu 37 X 131351272 131351272 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_021183.3 -1 provisional p.L9 1.000 331 0% 175 38.3% 3 0% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases MBNL3 55796 genome.wustl.edu 37 X 131515410 131515410 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_133486.2 -1 reviewed p.Q333 1.000 122 0% 87 23% 3 0% - - - NULL USP26 83844 genome.wustl.edu 37 X 132160082 132160082 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_031907.1 -1 reviewed p.D723Y 0.004 319 0% 287 28.6% 0 - benign(0.021) deleterious(0.03) neutral(0.365) HMMPfam_UCH,superfamily_Cysteine proteinases GPC4 2239 genome.wustl.edu 37 X 132548924 132548924 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001448.2 -1 reviewed p.E24K 1.000 39 0% 27 51.9% 3 0% possibly_damaging(0.69) tolerated(0.18) neutral(0.303) HMMPfam_Glypican GPC3 2719 genome.wustl.edu 37 X 132887968 132887968 + Silent SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004484.3 -1 reviewed p.A191 0.251 459 0% 352 26.7% 0 - - - - HMMPfam_Glypican CCDC160 347475 genome.wustl.edu 37 X 133378857 133378857 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001101357.1 +1 provisional p.K9N 0.481 39 0% 26 23.1% 7 0% possibly_damaging(0.839) tolerated(0.23) neutral(0.362) NULL PHF6 84295 genome.wustl.edu 37 X 133551261 133551261 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001015877.1 +1 reviewed p.K299N 1.000 112 0% 78 12.8% 8 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger FAM122B 159090 genome.wustl.edu 37 X 133930188 133930188 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_145284.5 -1 validated p.Y16 0.213 66 0% 56 19.6% 3 0% - - - NULL MOSPD1 56180 genome.wustl.edu 37 X 134030870 134030870 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_019556.1 -1 provisional p.F142C 1.000 251 0% 172 38.4% 7 0% probably_damaging(0.997) tolerated(0.18) deleterious(0.522) NULL LOC728470 728470 genome.wustl.edu 37 X 134326940 134326940 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343844.1 -1 model p.S56 0.001 169 0% 126 31.7% 0 - - - - NULL LOC650024 650024 genome.wustl.edu 37 X 134335694 134335694 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_001715421.2 +1 model p.S16L 0.001 61 0% 60 25% 0 - - - - NULL ZNF75D 7626 genome.wustl.edu 37 X 134421611 134421611 + Nonsense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_007131.3 -1 reviewed p.R331* 0.002 319 0% 254 34.6% 2 0% - - - NULL ZNF449 203523 genome.wustl.edu 37 X 134494561 134494561 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152695.5 +1 reviewed p.H373N 0.965 358 0% 308 26.9% 9 77.7% possibly_damaging(0.776) deleterious(0) deleterious(0.734) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DDX26B 203522 genome.wustl.edu 37 X 134713790 134713790 + Missense_Mutation SNP T T A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_182540.4 +1 validated p.S696T 0.787 224 0% 223 23.8% 0 - benign(0.015) tolerated(0.63) neutral(0.004) NULL LOC644717 644717 genome.wustl.edu 37 X 134773605 134773605 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343850.1 -1 model p.N827T 0.001 246 0% 185 30.3% 0 - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134808478 134808478 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343850.1 -1 model p.D473Y 0.015 100 0% 87 25.3% 0 - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134808932 134808932 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343850.1 -1 model p.P405S 0.002 86 0% 53 50.9% 0 - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134811255 134811255 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 XM_002343850.1 -1 model p.L185V 0.041 60 0% 42 47.6% 0 - - - - NULL SAGE1 55511 genome.wustl.edu 37 X 134988588 134988588 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018666.2 +1 reviewed p.N205S 0.012 232 0% 246 31.7% 0 - benign(0.154) deleterious(0) neutral(0.458) NULL SAGE1 55511 genome.wustl.edu 37 X 134991046 134991046 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018666.2 +1 reviewed p.R489C 0.007 183 0% 223 27.8% 0 - probably_damaging(0.999) tolerated(0.25) deleterious(0.527) NULL SLC9A6 10479 genome.wustl.edu 37 X 135126619 135126619 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001042537.1 +1 reviewed p.E614 0.856 125 0% 110 30% 4 0% - - - NULL FHL1 2273 genome.wustl.edu 37 X 135290787 135290787 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001449.4 +1 reviewed p.K225N 1.000 330 0% 277 26% 5 0% benign(0.01) tolerated(0.32) neutral(0.025) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) GPR112 139378 genome.wustl.edu 37 X 135427607 135427607 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153834.3 +1 reviewed p.R581H 0.000 732 0% 718 30.9% 0 - benign(0) tolerated(1) - NULL GPR112 139378 genome.wustl.edu 37 X 135429713 135429713 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153834.3 +1 reviewed p.S1283Y 0.000 646 0% 621 31.4% 0 - possibly_damaging(0.911) deleterious(0.03) deleterious(0.728) NULL GPR112 139378 genome.wustl.edu 37 X 135432563 135432563 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153834.3 +1 reviewed p.S2233L 0.000 245 0% 150 36% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL GPR112 139378 genome.wustl.edu 37 X 135441466 135441466 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_153834.3 +1 reviewed p.V2332 0.637 695 0% 557 22.4% 0 - - - - NULL BRS3 680 genome.wustl.edu 37 X 135572320 135572320 + Nonsense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001727.1 +1 validated p.R155* 0.985 148 0% 183 24.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CD40LG 959 genome.wustl.edu 37 X 135738536 135738536 + Missense_Mutation SNP C C T rs104894778 byCluster TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000074.2 +1 reviewed p.A123V 0.992 419 0% 302 31.5% 2 0% probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMSmart_TNF,superfamily_TNF_like CD40LG 959 genome.wustl.edu 37 X 135741396 135741396 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000074.2 +1 reviewed p.R203I 1.000 1680 0% 1555 34.9% 0 - benign(0.232) deleterious(0.01) neutral(0.429) HMMPfam_TNF,HMMSmart_TNF,superfamily_TNF_like ARHGEF6 9459 genome.wustl.edu 37 X 135767904 135767904 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004840.2 -1 reviewed p.E442K 1.000 156 0% 156 26.9% 0 - benign(0.054) deleterious(0.02) neutral(0.387) superfamily_PH domain-like ZIC3 7547 genome.wustl.edu 37 X 136649580 136649580 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003413.3 +1 reviewed p.R244W 1.000 59 0% 40 27.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL F9 2158 genome.wustl.edu 37 X 138642966 138642966 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000133.3 +1 reviewed p.T264A 1.000 311 0% 225 30.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS MCF2 4168 genome.wustl.edu 37 X 138678814 138678814 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099855.1 -1 reviewed p.R784Q 1.000 269 0% 269 34.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 MCF2 4168 genome.wustl.edu 37 X 138687892 138687892 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099855.1 -1 reviewed p.E573K 1.000 690 0% 472 30.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ATP11C 286410 genome.wustl.edu 37 X 138878621 138878621 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173694.4 -1 validated p.K342N 1.000 169 0% 112 33.9% 0 - possibly_damaging(0.594) tolerated(0.36) neutral(0.225) NULL ATP11C 286410 genome.wustl.edu 37 X 138879464 138879464 + Silent SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173694.4 -1 validated p.I296 0.974 161 0% 142 35.2% 1 0% - - - NULL MAGEC3 139081 genome.wustl.edu 37 X 140969300 140969300 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138702.1 +1 reviewed p.E209D 0.007 379 0% 360 28.3% 0 - unknown(0) tolerated(0.42) - HMMPfam_MAGE MAGEC3 139081 genome.wustl.edu 37 X 140983078 140983078 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_138702.1 +1 reviewed p.F311 0.000 123 0% 80 30% 0 - - - - NULL MAGEC1 9947 genome.wustl.edu 37 X 140995488 140995488 + Silent SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005462.4 +1 reviewed p.P766 0.850 659 0.2% 551 30.7% 0 - - - - NULL MAGEC1 9947 genome.wustl.edu 37 X 140995945 140995945 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005462.4 +1 reviewed p.L919I 0.001 438 0% 358 29.3% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_MAGE MAGEC2 51438 genome.wustl.edu 37 X 141291752 141291752 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_016249.3 -1 reviewed p.P8S 0.001 424 0% 410 13.4% 0 - possibly_damaging(0.771) deleterious(0) deleterious(0.731) NULL SLITRK4 139065 genome.wustl.edu 37 X 142716681 142716681 + Silent SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173078.3 -1 reviewed p.E748 0.998 289 0% 198 27.8% 0 - - - - NULL SLITRK4 139065 genome.wustl.edu 37 X 142716711 142716711 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173078.3 -1 reviewed p.K738N 1.000 281 0% 210 31% 0 - possibly_damaging(0.78) tolerated(0.3) neutral(0.320) NULL SLITRK4 139065 genome.wustl.edu 37 X 142718065 142718065 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173078.3 -1 reviewed p.P287L 1.000 140 0% 132 34.1% 0 - benign(0.275) deleterious(0.01) neutral(0.435) NULL SLITRK4 139065 genome.wustl.edu 37 X 142718389 142718389 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173078.3 -1 reviewed p.S179Y 1.000 198 0% 160 33.1% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like SLITRK2 84631 genome.wustl.edu 37 X 144905448 144905448 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144003.2 +1 reviewed p.R502I 1.000 170 0% 152 27% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00369,superfamily_L domain-like SLITRK2 84631 genome.wustl.edu 37 X 144905883 144905883 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001144003.2 +1 reviewed p.R647Q 1.000 198 0% 161 24.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MIR890 100126303 genome.wustl.edu 37 X 145075818 145075818 + RNA SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000401256 -1 known NULL 0.000 390 0% 239 33.5% 0 - - - - - FMR1 2332 genome.wustl.edu 37 X 147014062 147014062 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002024.5 +1 reviewed p.V250A 1.000 299 0% 318 28.6% 34 0% benign(0.36) deleterious(0) deleterious(0.559) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) AFF2 2334 genome.wustl.edu 37 X 147733570 147733570 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002025.3 +1 reviewed p.R33M 1.000 520 0% 435 14.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 147743980 147743980 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_002025.3 +1 reviewed p.F244 0.938 706 0% 579 34% 0 - - - - HMMPfam_AF-4 MAGEA11 4110 genome.wustl.edu 37 X 148798434 148798434 + Nonstop_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005366.4 +1 reviewed p.*430G 0.001 157 0% 138 37.7% 1 0% - - - NULL MAMLD1 10046 genome.wustl.edu 37 X 149638177 149638177 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005491.3 +1 reviewed p.P111H 0.151 296 0% 352 27.6% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL MTMR1 8776 genome.wustl.edu 37 X 149896165 149896165 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_003828.2 +1 reviewed p.F145V 1.000 166 0% 135 29.6% 7 0% possibly_damaging(0.948) tolerated(0.55) neutral(0.398) HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like MTMR1 8776 genome.wustl.edu 37 X 149931091 149931091 + Nonsense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000445323 +1 known p.E163* 1.000 77 0% 76 27.6% 18 0% benign(0.096) tolerated(0.5) neutral(0.017) NULL GPR50 9248 genome.wustl.edu 37 X 150348829 150348829 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004224.3 +1 reviewed p.V258 1.000 352 0% 365 30.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like VMA21 203547 genome.wustl.edu 37 X 150572170 150572170 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001017980.3 +1 reviewed p.P41T 1.000 339 0% 227 27.8% 30 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VMA21 PASD1 139135 genome.wustl.edu 37 X 150791516 150791516 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173493.2 +1 reviewed p.L176I 0.000 261 0.4% 193 32.1% 0 - probably_damaging(0.976) tolerated(0.08) deleterious(0.718) NULL PASD1 139135 genome.wustl.edu 37 X 150840886 150840886 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_173493.2 +1 reviewed p.E557K 0.000 89 0% 90 22.2% 0 - unknown(0) deleterious(0.01) - NULL CNGA2 1260 genome.wustl.edu 37 X 150912737 150912737 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005140.1 +1 reviewed p.E588K 0.625 292 0% 277 29.6% 0 - benign(0) tolerated(0.95) - NULL GABRE 2564 genome.wustl.edu 37 X 151123215 151123215 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004961.3 -1 reviewed p.F493L 0.011 61 0% 62 29% 0 - possibly_damaging(0.946) tolerated(0.24) neutral(0.427) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA3 2556 genome.wustl.edu 37 X 151358340 151358340 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000808.3 -1 reviewed p.A335 1.000 203 0% 136 41.2% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA3 2556 genome.wustl.edu 37 X 151453183 151453183 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000808.3 -1 reviewed p.D96G 1.000 252 0% 226 27% 0 - benign(0.059) deleterious(0) neutral(0.449) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA3 2556 genome.wustl.edu 37 X 151514097 151514097 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000808.3 -1 reviewed p.R73H 1.000 206 0% 275 36% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRQ 55879 genome.wustl.edu 37 X 151821263 151821263 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018558.2 +1 reviewed p.A473D 0.000 216 0% 245 34.3% 0 - benign(0.072) deleterious(0) neutral(0.450) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRQ 55879 genome.wustl.edu 37 X 151821639 151821639 + Silent SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_018558.2 +1 reviewed p.L598 0.208 230 0% 227 33% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM CSAG1 158511 genome.wustl.edu 37 X 151904511 151904511 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102576.1 +1 reviewed p.A3 0.001 228 0% 170 31.8% 0 - - - - NULL CSAG1 158511 genome.wustl.edu 37 X 151909176 151909176 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001102576.1 +1 reviewed p.K69E 0.001 504 0% 408 28.4% 1 100% benign(0.004) - - NULL CETN2 1069 genome.wustl.edu 37 X 151997151 151997151 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_004344.1 -1 reviewed p.K120T 0.963 175 0% 222 25.7% 171 0% benign(0.002) tolerated(0.08) neutral(0.300) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 ZNF275 10838 genome.wustl.edu 37 X 152612687 152612687 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001080485.2 +1 validated p.E182K 0.300 287 0% 277 27.8% 1 0% possibly_damaging(0.882) tolerated(0.28) neutral(0.376) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HAUS7 55559 genome.wustl.edu 37 X 152734672 152734672 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_017518.6 -1 reviewed p.K62N 0.009 74 0% 174 10.9% 18 77.7% probably_damaging(0.999) tolerated(0.2) deleterious(0.539) NULL BGN 633 genome.wustl.edu 37 X 152772344 152772344 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001711.4 +1 reviewed p.E245K 1.000 125 0% 125 27.2% 1066 2.2% benign(0.031) tolerated(0.11) neutral(0.273) superfamily_SSF52058 FAM58A 92002 genome.wustl.edu 37 X 152853730 152853730 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000428722 -1 known p.R106M 0.870 52 0% 54 33.3% 53 0% benign(0) tolerated(0.23) neutral(0.042) NULL FAM58A 92002 genome.wustl.edu 37 X 152860071 152860071 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_152274.3 -1 reviewed p.R121C 0.165 84 0% 65 20% 68 1.4% - - - NULL PNCK 139728 genome.wustl.edu 37 X 152938101 152938101 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000411968 -1 known p.S30L 0.658 40 0% 36 30.6% 0 - benign(0.005) - - NULL PDZD4 57595 genome.wustl.edu 37 X 153070657 153070657 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_032512.2 -1 provisional p.A219 0.701 30 0% 16 31.2% 0 - - - - superfamily_PDZ domain-like L1CAM 3897 genome.wustl.edu 37 X 153128961 153128961 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000425.3 -1 reviewed p.P1167 0.039 24 0% 24 29.2% 60 0% - - - NULL L1CAM 3897 genome.wustl.edu 37 X 153130107 153130107 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000425.3 -1 reviewed p.V1033 0.002 104 0% 124 37.1% 44 93.1% - - - superfamily_Fibronectin type III AVPR2 554 genome.wustl.edu 37 X 153171297 153171297 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000054.4 +1 reviewed p.R113W 1.000 41 0% 59 39% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ARHGAP4 393 genome.wustl.edu 37 X 153178166 153178166 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001666.4 -1 reviewed p.E510D 0.997 67 0% 56 44.6% 13 0% benign(0.378) tolerated(0.26) neutral(0.154) superfamily_Rho_GAP HCFC1 3054 genome.wustl.edu 37 X 153223312 153223312 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005334.2 -1 reviewed p.S685L 1.000 49 0% 64 48.4% 9 55.5% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL OPN1LW 5956 genome.wustl.edu 37 X 153416136 153416136 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_020061.4 +1 reviewed p.E41K 0.997 389 0% 364 30.8% 0 - benign(0.211) deleterious(0) neutral(0.465) superfamily_SSF81321 OPN1MW 2652 genome.wustl.edu 37 X 153453454 153453454 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000513.2 +1 reviewed p.T103I 0.998 251 0% 276 17% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OPN1MW 2652 genome.wustl.edu 37 X 153461521 153461521 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000513.2 +1 reviewed p.S362L 0.995 253 0% 209 10.5% 0 - unknown(0) deleterious(0) - superfamily_SSF81321 FLNA 2316 genome.wustl.edu 37 X 153593614 153593614 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 ENST00000420627 -1 known p.R500C 0.031 23 0% 23 39.1% 70 0% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMSmart_SM00557 FLNA 2316 genome.wustl.edu 37 X 153595131 153595131 + Missense_Mutation SNP T T C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001110556.1 -1 reviewed p.Y319C 0.984 12 0% 15 26.7% 61 0% probably_damaging(0.957) tolerated(0.15) deleterious(0.641) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin EMD 2010 genome.wustl.edu 37 X 153609119 153609119 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000117.2 +1 reviewed p.D136Y 0.005 18 0% 17 35.3% 238 0% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL RPL10 6134 genome.wustl.edu 37 X 153628932 153628932 + Missense_Mutation SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_006013.3 +1 reviewed p.R153C 0.996 89 0% 89 37.1% 2339 64.9% benign(0.001) deleterious(0) neutral(0.445) HMMPfam_Ribosomal_L16,superfamily_Ribosomal protein L10e TAZ 6901 genome.wustl.edu 37 X 153648053 153648053 + Missense_Mutation SNP A A G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000116.3 +1 reviewed p.N184S 1.000 120 0% 161 29.8% 9 0% possibly_damaging(0.856) deleterious(0.01) deleterious(0.736) HMMPfam_Acyltransferase,HMMSmart_SM00563,superfamily_Glycerol-3-phosphate (1)-acyltransferase IKBKG 8517 genome.wustl.edu 37 X 153770627 153770627 + Missense_Mutation SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001099856.2 +1 reviewed p.R50H 0.000 44 0% 37 29.7% 0 - unknown(0) - - NULL GAB3 139716 genome.wustl.edu 37 X 153924198 153924198 + Silent SNP G G A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001081573.1 -1 reviewed p.I508 1.000 95 0% 86 36% 0 - - - - NULL DKC1 1736 genome.wustl.edu 37 X 154003507 154003507 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001363.3 +1 reviewed p.K433Q 0.000 261 0% 250 25.6% 66 0% benign(0.418) tolerated(0.46) neutral(0.148) NULL F8 2157 genome.wustl.edu 37 X 154124487 154124487 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000132.3 -1 reviewed p.M2098I 1.000 401 0% 418 34% 0 - benign(0.046) deleterious(0.01) neutral(0.408) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,superfamily_Galactose-binding domain-like F8 2157 genome.wustl.edu 37 X 154132674 154132674 + Silent SNP C C T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000132.3 -1 reviewed p.E1904 1.000 561 0% 575 31.3% 0 - - - - superfamily_Cupredoxins F8 2157 genome.wustl.edu 37 X 154157369 154157369 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000132.3 -1 reviewed p.L1566M 0.002 738 0% 765 27.1% 0 - possibly_damaging(0.95) deleterious(0) deleterious(0.838) NULL F8 2157 genome.wustl.edu 37 X 154159768 154159768 + Missense_Mutation SNP C C A novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000132.3 -1 reviewed p.R766I 0.613 584 0% 524 32.6% 0 - possibly_damaging(0.931) deleterious(0.01) deleterious(0.783) NULL F8 2157 genome.wustl.edu 37 X 154185254 154185254 + Missense_Mutation SNP G G T novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_000132.3 -1 reviewed p.S577Y 1.000 767 0% 713 27.5% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_Cupredoxins CLIC2 1193 genome.wustl.edu 37 X 154528409 154528409 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001289.4 -1 reviewed p.L36R 1.000 394 0% 323 26% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Thioredoxin-like CLIC2 1193 genome.wustl.edu 37 X 154563699 154563699 + Missense_Mutation SNP T T G novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_001289.4 -1 reviewed p.E13A 1.000 674 0% 517 21.9% 3 0% benign(0.058) tolerated(0.39) neutral(0.019) superfamily_Thioredoxin-like VAMP7 6845 genome.wustl.edu 37 X 155119254 155119254 + Missense_Mutation SNP A A C novel TCGA-AP-A056-01A-11W-A027-09 TCGA-AP-A056-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8d74a53-1956-4a1a-9dbb-81151ebb79da b4c6d00f-748d-4152-8191-408ca932f2c0 NM_005638.4 +1 validated p.K42T 1.000 277 0% 244 26.2% 14 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SNARE-like