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 CAMTA1 23261 genome.wustl.edu 37 1 7806112 7806112 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015215.1 +1 validated p.E1526D 0.997 227 0% 130 46.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_P-loop containing nucleoside triphosphate hydrolases KIF1B 23095 genome.wustl.edu 37 1 10435311 10435311 + Splice_Site SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015074.3 +1 reviewed e45-2 1.000 271 0% 146 15.1% 0 - - - - - FBXO6 26270 genome.wustl.edu 37 1 11731405 11731405 + Missense_Mutation SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018438.5 +1 reviewed p.D123E 0.081 54 0% 35 14.3% 19 26.3% benign(0) tolerated(1) - HMMPfam_FBA,superfamily_Galactose-binding domain-like CROCC 9696 genome.wustl.edu 37 1 17272009 17272009 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014675.3 +1 validated p.L682 1.000 17 0% 13 46.2% 2 100% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27106039 27106039 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006015.4 +1 reviewed p.T1884S 0.380 212 0% 129 11.6% 65 13.8% possibly_damaging(0.662) tolerated(0.48) neutral(0.245) NULL MAP3K6 9064 genome.wustl.edu 37 1 27690824 27690824 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004672.3 -1 reviewed p.C189Y 1.000 30 0% 24 20.8% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMEM39B 55116 genome.wustl.edu 37 1 32568213 32568213 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018056.2 +1 validated p.L473S 1.000 145 0% 58 53.4% 68 54.4% probably_damaging(0.996) tolerated(0.15) deleterious(0.703) HMMPfam_Tmp39 HPCA 3208 genome.wustl.edu 37 1 33354872 33354872 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002143.2 +1 reviewed p.V125M 1.000 102 0% 48 54.2% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand DLGAP3 58512 genome.wustl.edu 37 1 35365869 35365869 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001080418.1 -1 provisional p.P371 0.961 141 0.7% 80 51.2% 0 - - - - NULL MAP7D1 55700 genome.wustl.edu 37 1 36639006 36639006 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018067.3 +1 provisional p.T222 0.019 69 0% 50 52% 40 52.5% - - - NULL EPHA10 284656 genome.wustl.edu 37 1 38185646 38185646 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001099439.1 -1 validated p.G833S 1.000 37 0% 25 40% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MACF1 23499 genome.wustl.edu 37 1 39920621 39920621 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_033044.2 +1 reviewed p.T5419M 0.986 302 0% 153 15% 47 4.2% possibly_damaging(0.925) tolerated(0.06) deleterious(0.696) HMMPfam_Spectrin,superfamily_Spectrin SLFNL1 200172 genome.wustl.edu 37 1 41483477 41483477 + Missense_Mutation SNP C C G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_144990.3 -1 validated p.E263Q 0.970 48 0% 31 51.6% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_AAA_4 CCDC24 149473 genome.wustl.edu 37 1 44459561 44459561 + Splice_Site SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000463846 +1 known NULL 0.981 32 0% 29 31% 0 - - - - - KNCN 148930 genome.wustl.edu 37 1 47014940 47014940 + Splice_Site SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001097611.1 -1 provisional e2-1 0.626 29 0% 21 42.9% 0 - - - - - ANKRD13C 81573 genome.wustl.edu 37 1 70781171 70781171 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_030816.4 -1 validated p.L219P 1.000 476 0% 219 36.1% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat LPAR3 23566 genome.wustl.edu 37 1 85279827 85279827 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012152.2 -1 reviewed p.G255D 1.000 142 0% 63 42.9% 2 50% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_7tm_1,superfamily_SSF81321 HFM1 164045 genome.wustl.edu 37 1 91781959 91781959 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001017975.3 -1 validated p.E963K 1.000 368 0% 190 12.1% 0 - probably_damaging(1) tolerated(0.24) deleterious(0.537) HMMPfam_Sec63 BTBD8 284697 genome.wustl.edu 37 1 92554363 92554363 + Missense_Mutation SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_183242.3 +1 validated p.H86Q 0.969 361 0% 186 18.8% 0 - possibly_damaging(0.92) tolerated(0.32) neutral(0.395) HMMSmart_SM00225,superfamily_POZ domain PTBP2 58155 genome.wustl.edu 37 1 97271988 97271988 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021190.2 +1 reviewed p.Q353R 1.000 512 0% 221 33.9% 4 75% benign(0.008) tolerated(0.1) neutral(0.286) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD GPSM2 29899 genome.wustl.edu 37 1 109439526 109439526 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_013296.4 +1 validated p.R33C 1.000 458 0.2% 320 16.3% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF48452 FAM40A 85369 genome.wustl.edu 37 1 110585882 110585882 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_033088.2 +1 validated p.R353Q 0.999 25 0% 19 42.1% 15 53.3% possibly_damaging(0.613) tolerated(0.6) neutral(0.217) HMMPfam_N1221 LOC100287536 100287536 genome.wustl.edu 37 1 111983900 111983900 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a XM_002342100.1 +1 model p.H82Y 0.999 182 0% 110 13.6% 123 1.6% - - - NULL FAM46C 54855 genome.wustl.edu 37 1 118165591 118165591 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017709.3 +1 validated p.P34H 1.000 163 0% 82 14.6% 24 16.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DUF1693 WDR3 10885 genome.wustl.edu 37 1 118502046 118502046 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006784.2 +1 reviewed p.E936 1.000 139 0% 102 11.8% 23 4.3% - - - HMMPfam_Utp12 RNF115 27246 genome.wustl.edu 37 1 145650506 145650506 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014455.2 +1 validated p.R62Q 1.000 293 0% 245 20.8% 23 21.7% benign(0.198) tolerated(0.58) neutral(0.024) NULL GJA8 2703 genome.wustl.edu 37 1 147380445 147380445 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005267.4 +1 reviewed p.N121 0.657 77 0% 103 14.6% 0 - - - - HMMPfam_Connexin BNIPL 149428 genome.wustl.edu 37 1 151018347 151018347 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_138278.3 +1 validated p.R309Q 1.000 444 0% 378 22% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMSmart_SM00516,superfamily_CRAL/TRIO domain PI4KB 5298 genome.wustl.edu 37 1 151271348 151271348 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002651.1 -1 provisional p.R663C 1.000 430 0.2% 420 26.2% 173 16.1% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) CGN 57530 genome.wustl.edu 37 1 151509750 151509750 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020770.2 +1 validated p.F1180 0.922 146 0% 151 21.9% 22 0% - - - NULL FLG 2312 genome.wustl.edu 37 1 152281955 152281955 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002016.1 -1 reviewed p.H1803Y 0.002 251 0% 331 23.6% 0 - unknown(0) deleterious(0.02) - NULL AQP10 89872 genome.wustl.edu 37 1 154295790 154295790 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_080429.2 +1 reviewed p.T148 1.000 84 0% 141 29.8% 0 - - - - HMMPfam_MIP,superfamily_Aquaporin-like ZBTB7B 51043 genome.wustl.edu 37 1 154987431 154987431 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015872.2 +1 validated p.L99 0.983 41 0% 78 10.3% 106 24.5% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB RUSC1-AS1 284618 genome.wustl.edu 37 1 155290764 155290764 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001039517.1 -1 predicted p.P172 0.895 68 0% 56 12.5% 0 - - - - NULL RUSC1 23623 genome.wustl.edu 37 1 155291677 155291677 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001105203.1 +1 validated p.S38N 1.000 172 0% 190 24.7% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL GON4L 54856 genome.wustl.edu 37 1 155735039 155735039 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001037533.1 -1 validated p.G1409R 0.032 255 0% 385 24.9% 8 12.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARHGEF2 9181 genome.wustl.edu 37 1 155936259 155936259 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004723.3 -1 validated p.A69 0.378 202 0% 165 20% 54 31.4% - - - NULL IQGAP3 128239 genome.wustl.edu 37 1 156524156 156524156 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_178229.4 -1 validated p.A440V 1.000 100 0% 89 12.4% 2 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL BCAN 63827 genome.wustl.edu 37 1 156628397 156628398 + Frame_Shift_Del DEL TA TA - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021948.3 +1 validated p.Y834fs 1.000:1.000 - - - - - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain MNDA 4332 genome.wustl.edu 37 1 158815499 158815499 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002432.1 +1 reviewed p.G231 0.000 244 0% 233 23.2% 0 - - - - HMMPfam_HIN CD244 51744 genome.wustl.edu 37 1 160811035 160811035 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016382.3 -1 reviewed p.L207P 0.001 168 0% 180 17.8% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_Immunoglobulin PPOX 5498 genome.wustl.edu 37 1 161137244 161137244 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000309.3 +1 reviewed p.G102 0.009 100 0% 99 12.1% 23 4.3% - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain HSPA6 3310 genome.wustl.edu 37 1 161495420 161495420 + Silent SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002155.3 +1 validated p.R324 0.272 25 0% 38 26.3% 3 33.3% - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain C1orf9 51430 genome.wustl.edu 37 1 172555059 172555059 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014283.3 +1 validated p.T543 1.000 403 0% 586 23.2% 33 18.1% - - - NULL FAM5B 57795 genome.wustl.edu 37 1 177250434 177250434 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021165.2 +1 provisional p.Y708H 0.991 380 0% 465 23.4% 0 - possibly_damaging(0.896) deleterious(0) deleterious(0.798) NULL RNF2 6045 genome.wustl.edu 37 1 185060871 185060871 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_007212.3 +1 reviewed p.G83D 1.000 658 0% 657 24.4% 18 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box TPR 7175 genome.wustl.edu 37 1 186324641 186324641 + Missense_Mutation SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003292.2 -1 reviewed p.K691I 0.996 271 0% 253 24.9% 1 0% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL TROVE2 6738 genome.wustl.edu 37 1 193046161 193046161 + Missense_Mutation SNP C C G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004600.5 +1 validated p.A356G 1.000 135 0% 145 11% 5 0% benign(0.179) deleterious(0) neutral(0.461) HMMPfam_TROVE IL20 50604 genome.wustl.edu 37 1 207041890 207041890 + Nonsense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018724.3 +1 reviewed p.W171* 1.000 92 0% 106 26.4% 3 0% - - - superfamily_4_helix_cytokine,HMMPfam_IL10,HMMSmart_IL10 TRAF5 7188 genome.wustl.edu 37 1 211526730 211526730 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001033910.2 +1 reviewed p.S50L 0.118 117 0% 145 26.2% 9 33.3% benign(0) tolerated(1) - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box FLVCR1 28982 genome.wustl.edu 37 1 213068596 213068596 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000419102 +1 known p.R343Q 0.000 293 0% 203 20.7% 26 38.4% - - - NULL ANGEL2 90806 genome.wustl.edu 37 1 213178414 213178414 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_144567.3 -1 validated p.K365N 0.995 383 0% 310 20% 10 20% benign(0.003) tolerated(0.32) neutral(0.024) HMMPfam_Exo_endo_phos,superfamily_DNase I-like CENPF 1063 genome.wustl.edu 37 1 214816555 214816555 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016343.3 +1 reviewed p.A1625V 0.973 166 0% 190 20.5% 9 11.1% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL USH2A 7399 genome.wustl.edu 37 1 216363696 216363696 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_206933.2 -1 reviewed p.A1422V 0.924 184 0.5% 214 23.4% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases RAB3GAP2 25782 genome.wustl.edu 37 1 220345334 220345334 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012414.3 -1 reviewed p.R825H 1.000 431 0% 387 22.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TLR5 7100 genome.wustl.edu 37 1 223284841 223284841 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003268.5 -1 reviewed p.H511Q 0.103 361 0% 389 11.3% 5 20% benign(0) tolerated(0.26) neutral(0.034) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 PCNXL2 80003 genome.wustl.edu 37 1 233353660 233353660 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014801.3 -1 provisional p.P892 0.866 132 0% 145 31.7% 6 33.3% - - - NULL TBCE 6905 genome.wustl.edu 37 1 235612066 235612066 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001079515.1 +1 reviewed p.V525M 1.000 133 0% 131 10.7% 47 27.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF54236 B3GALNT2 148789 genome.wustl.edu 37 1 235647700 235647700 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152490.2 -1 validated p.D165N 0.710 825 0.1% 1050 25.7% 23 34.7% possibly_damaging(0.69) tolerated(0.36) neutral(0.267) NULL ACTN2 88 genome.wustl.edu 37 1 236907951 236907951 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001103.2 +1 reviewed p.K427N 1.000 50 0% 42 11.9% 0 - benign(0.001) tolerated(0.46) neutral(0.012) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MTR 4548 genome.wustl.edu 37 1 236958927 236958928 + Frame_Shift_Ins INS - - G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000418145 +1 known p.P104fs 0.000:0.000 - - - - - - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237664186 237664186 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001035.2 +1 reviewed p.S793 1.000 598 0.2% 692 22.1% 0 - - - - HMMPfam_SPRY,HMMSmart_SM00449 RYR2 6262 genome.wustl.edu 37 1 237817651 237817653 + In_Frame_Del DEL AGA AGA - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001035.2 +1 reviewed p.E2637in_frame_del 0.453:1.000:1.000 - - - - - - - - - NULL SDCCAG8 10806 genome.wustl.edu 37 1 243579024 243579024 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006642.2 +1 validated p.Q546R 1.000 303 0.3% 340 10.9% 27 25.9% possibly_damaging(0.836) deleterious(0.02) deleterious(0.703) NULL KIF26B 55083 genome.wustl.edu 37 1 245530261 245530261 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018012.3 +1 provisional p.E197 1.000 43 0% 61 9.8% 11 0% - - - NULL AHCTF1 25909 genome.wustl.edu 37 1 247058023 247058023 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015446.4 -1 validated p.R581H 0.985 153 0% 157 23.6% 1 0% benign(0.269) tolerated(0.13) neutral(0.281) NULL OR2T8 343172 genome.wustl.edu 37 1 248084383 248084383 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001005522.1 +1 validated p.H22Y 0.005 655 0% 605 21.3% 0 - probably_damaging(0.974) tolerated(0.13) deleterious(0.668) superfamily_SSF81321 OR2L2 26246 genome.wustl.edu 37 1 248202295 248202295 + Silent SNP C C T rs118122259 by1000genomes TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001004686.2 +1 provisional p.T242 0.953 774 0% 878 11.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 FAM150B 285016 genome.wustl.edu 37 2 286290 286290 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001002919.2 -1 validated p.G103C 1.000 115 0% 108 13.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM18 129787 genome.wustl.edu 37 2 675573 675573 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152834.2 -1 validated p.V39M 1.000 135 0% 78 50% 196 50% possibly_damaging(0.527) deleterious(0.03) deleterious(0.542) NULL ADCY3 109 genome.wustl.edu 37 2 25043704 25043704 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004036.3 -1 reviewed p.G1047 0.976 110 0.9% 58 50% 22 40.9% - - - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase FOSL2 2355 genome.wustl.edu 37 2 28635007 28635007 + Missense_Mutation SNP C C G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005253.3 +1 reviewed p.P225A 1.000 43 0% 17 35.3% 7 71.4% probably_damaging(0.979) tolerated(0.13) deleterious(0.674) NULL PPP1CB 5500 genome.wustl.edu 37 2 29022133 29022133 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002709.2 +1 reviewed p.T316 1.000 485 0% 241 19.9% 125 27.2% - - - NULL CLIP4 79745 genome.wustl.edu 37 2 29404669 29404669 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_024692.4 +1 validated p.T676 1.000 481 0% 228 40.4% 0 - - - - HMMPfam_CAP_GLY,superfamily_Cap-Gly domain ALK 238 genome.wustl.edu 37 2 29462665 29462665 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004304.3 -1 reviewed p.G746C 1.000 67 0% 36 41.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LCLAT1 253558 genome.wustl.edu 37 2 30682516 30682516 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_182551.3 +1 validated p.N13S 0.311 845 0.1% 427 10.5% 0 - benign(0.221) - - NULL BIRC6 57448 genome.wustl.edu 37 2 32740803 32740803 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016252.3 +1 reviewed p.S3772L 1.000 152 0% 98 21.4% 9 0% benign(0.195) tolerated(0.33) neutral(0.042) NULL BIRC6 57448 genome.wustl.edu 37 2 32824935 32824935 + Nonsense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016252.3 +1 reviewed p.R4654* 1.000 147 0% 79 43% 13 15.3% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like MAP4K3 8491 genome.wustl.edu 37 2 39481629 39481629 + Nonsense_Mutation SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003618.2 -1 reviewed p.K835* 1.000 409 0% 152 45.4% 6 16.6% - - - HMMPfam_CNH,HMMSmart_SM00036 PREPL 9581 genome.wustl.edu 37 2 44566305 44566305 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006036.4 -1 reviewed p.G317E 1.000 221 0% 136 44.1% 8 50% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Peptidase_S9_N,superfamily_Prolyl oligopeptidase N-terminal domain FBXO11 80204 genome.wustl.edu 37 2 48063064 48063064 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_025133.3 -1 reviewed p.N138D 1.000 206 0% 101 13.9% 1 0% benign(0.007) tolerated(0.45) neutral(0.012) superfamily_SSF81383 FBXO11 80204 genome.wustl.edu 37 2 48066805 48066805 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_025133.3 -1 reviewed p.A28 1.000 243 0% 89 43.8% 7 0% - - - NULL PPP3R1 5534 genome.wustl.edu 37 2 68414433 68414433 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000945.3 -1 validated p.G78 0.916 78 0% 56 17.9% 14 42.8% - - - HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand ARHGAP25 9938 genome.wustl.edu 37 2 69034595 69034595 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000497259 +1 known p.S78N 1.000 331 0% 146 47.9% 0 - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP MPHOSPH10 10199 genome.wustl.edu 37 2 71361825 71361825 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005791.1 +1 reviewed p.T332 1.000 624 0% 254 11% 10 10% - - - HMMPfam_Mpp10 PTCD3 55037 genome.wustl.edu 37 2 86364216 86364216 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017952.5 +1 validated p.G644 0.127 378 0% 241 42.3% 48 50% - - - NULL MRPL35 51318 genome.wustl.edu 37 2 86434439 86434439 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016622.3 +1 reviewed p.V123M 0.990 243 0% 96 47.9% 30 40% possibly_damaging(0.885) deleterious(0) deleterious(0.790) HMMPfam_MRP-L35 IGKV1-16 28938 genome.wustl.edu 37 2 89399448 89399448 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000479981 -1 known p.S85 0.997 701 0.1% 484 16.5% 1 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin LOC344065 344065 genome.wustl.edu 37 2 95881243 95881243 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a XM_292895.7 +1 model p.S503 0.080 94 1.1% 46 21.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SNRNP200 23020 genome.wustl.edu 37 2 96944305 96944305 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014014.3 -1 reviewed p.Y1823C 1.000 92 0% 67 46.3% 254 52.3% benign(0.413) deleterious(0.04) deleterious(0.482) HMMPfam_Sec63,HMMSmart_SM00611 CNNM4 26504 genome.wustl.edu 37 2 97427302 97427302 + Missense_Mutation SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020184.3 +1 reviewed p.I189N 0.109 94 0% 57 19.3% 3 0% possibly_damaging(0.871) deleterious(0) deleterious(0.783) HMMPfam_DUF21 TMEM131 23505 genome.wustl.edu 37 2 98431678 98431679 + Frame_Shift_Ins INS - - T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015348.1 -1 validated p.A425fs 1.000:1.000 - - - - - - - - - NULL RANBP2 5903 genome.wustl.edu 37 2 109381654 109381654 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006267.4 +1 reviewed p.L1553 0.000 368 0% 259 12.4% 27 18.5% - - - HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1 TTL 150465 genome.wustl.edu 37 2 113243551 113243551 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_153712.4 +1 validated p.C72Y 1.000 91 0% 76 47.4% 1 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL TTL 150465 genome.wustl.edu 37 2 113277984 113277984 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_153712.4 +1 validated p.G334D 1.000 181 0% 148 12.2% 9 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like SLC20A1 6574 genome.wustl.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005415.3 +1 provisional p.R332fs 0.023:0.531 - - - - - - - - - HMMPfam_PHO4 ERCC3 2071 genome.wustl.edu 37 2 128044522 128044522 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000122.1 -1 reviewed p.S367P 1.000 153 0% 71 11.3% 53 1.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ResIII,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases POTEF 728378 genome.wustl.edu 37 2 130832880 130832880 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001099771.2 -1 validated p.A722V 1.000 147 0% 64 34.4% 0 - possibly_damaging(0.91) deleterious(0) deleterious(0.807) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 POTEE 445582 genome.wustl.edu 37 2 132021474 132021474 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001083538.1 +1 validated p.R816C 1.000 223 0% 85 32.9% 652 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,superfamily_Actin-like ATPase domain LCT 3938 genome.wustl.edu 37 2 136570167 136570167 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002299.2 -1 reviewed p.R689 1.000 164 0% 121 11.6% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat CACNB4 785 genome.wustl.edu 37 2 152698417 152698417 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000726.3 -1 reviewed p.Q434H 1.000 523 0% 135 11.9% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_Ca_channel_B BAZ2B 29994 genome.wustl.edu 37 2 160295639 160295639 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_013450.2 -1 validated p.S261G 1.000 566 0.2% 237 11.8% 0 - possibly_damaging(0.889) deleterious(0.01) deleterious(0.755) NULL KCNH7 90134 genome.wustl.edu 37 2 163279937 163279937 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_033272.2 -1 reviewed p.R688H 1.000 616 0% 382 41.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_cAMP-binding domain-like XIRP2 129446 genome.wustl.edu 37 2 168102007 168102007 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152381.4 +1 validated p.Y1369H 1.000 555 0% 359 14.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL METTL5 29081 genome.wustl.edu 37 2 170672016 170672016 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014168.2 -1 provisional p.E171G 1.000 111 0% 50 12% 46 6.5% benign(0.009) deleterious(0.03) neutral(0.365) superfamily_SSF53335 ZAK 51776 genome.wustl.edu 37 2 174068525 174068525 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016653.2 +1 reviewed p.R224K 1.000 386 0% 198 53% 4 50% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ANKAR 150709 genome.wustl.edu 37 2 190541739 190541739 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_144708.3 +1 validated p.W104R 1.000 118 0% 70 51.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat MFSD6 54842 genome.wustl.edu 37 2 191301018 191301018 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017694.3 +1 validated p.L88P 0.977 410 0.2% 294 20.4% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ANKRD44 91526 genome.wustl.edu 37 2 197863774 197863774 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_153697.1 -1 provisional p.T816I 1.000 150 0% 81 35.8% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK TYW5 129450 genome.wustl.edu 37 2 200797958 200797958 + Missense_Mutation SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001039693.2 -1 validated p.K260N 1.000 217 0% 147 11.6% 1 0% benign(0.013) tolerated(0.33) neutral(0.025) HMMSmart_SM00558,superfamily_Clavaminate synthase-like ALS2CR11 151254 genome.wustl.edu 37 2 202436716 202436716 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152525.5 -1 validated p.P261S 0.998 174 0% 128 10.2% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL FZD7 8324 genome.wustl.edu 37 2 202900408 202900408 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003507.1 +1 reviewed p.F346 1.000 20 0% 18 22.2% 1 0% - - - HMMPfam_Frizzled PIKFYVE 200576 genome.wustl.edu 37 2 209215639 209215639 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015040.3 +1 reviewed p.G1860D 1.000 174 0% 107 15% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like SMARCAL1 50485 genome.wustl.edu 37 2 217279817 217279817 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001127207.1 +1 reviewed p.P130 0.007 651 0.3% 330 47% 3 0% - - - NULL WDFY1 57590 genome.wustl.edu 37 2 224760221 224760221 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020830.3 -1 reviewed p.H242R 1.000 223 0.4% 148 17.6% 30 3.3% probably_damaging(0.991) tolerated(0.4) neutral(0.460) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 COL4A3 1285 genome.wustl.edu 37 2 228122353 228122353 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000091.3 +1 reviewed p.R341H 1.000 192 0% 131 38.9% 0 - unknown(0) tolerated(0.13) - HMMPfam_Collagen SP140L 93349 genome.wustl.edu 37 2 231235669 231235669 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_138402.4 +1 provisional p.A190 0.001 110 0% 59 15.3% 0 - - - - NULL CNTN6 27255 genome.wustl.edu 37 3 1414033 1414033 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014461.2 +1 reviewed p.E515K 1.000 336 0% 184 12.5% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 ATG7 10533 genome.wustl.edu 37 3 11468322 11468322 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006395.2 +1 validated p.K667N 1.000 159 0.6% 84 41.7% 19 52.6% possibly_damaging(0.77) tolerated(0.12) deleterious(0.546) superfamily_Activating enzymes of the ubiquitin-like proteins XPC 7508 genome.wustl.edu 37 3 14190327 14190327 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004628.4 -1 reviewed p.A746D 1.000 39 0% 30 16.7% 57 12.2% possibly_damaging(0.943) deleterious(0) deleterious(0.832) NULL COLQ 8292 genome.wustl.edu 37 3 15563048 15563048 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005677.3 -1 reviewed p.S29G 0.937 288 0.3% 113 15% 0 - unknown(0) - - NULL ANKRD28 23243 genome.wustl.edu 37 3 15751244 15751244 + Splice_Site SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015199.2 -1 provisional e13-1 1.000 59 0% 34 14.7% 0 - - - - - VILL 50853 genome.wustl.edu 37 3 38047992 38047992 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015873.3 +1 reviewed p.A753V 0.000 123 0% 63 54% 0 - benign(0) tolerated(0.6) neutral(0.004) NULL DLEC1 9940 genome.wustl.edu 37 3 38151597 38151597 + Nonsense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_007337.2 +1 reviewed p.Q1090* 0.002 106 0% 61 29.5% 0 - - - - NULL SCN5A 6331 genome.wustl.edu 37 3 38592427 38592427 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001099404.1 -1 reviewed p.S1812 0.435 207 0% 120 56.7% 0 - - - - NULL SCN10A 6336 genome.wustl.edu 37 3 38739881 38739881 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006514.2 -1 validated p.I1610 0.999 463 0% 275 47.3% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 SCN10A 6336 genome.wustl.edu 37 3 38755451 38755451 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006514.2 -1 validated p.R1268W 1.000 200 0% 84 39.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 CCR8 1237 genome.wustl.edu 37 3 39374668 39374668 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005201.3 +1 reviewed p.T282 0.995 201 0% 161 47.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF445 353274 genome.wustl.edu 37 3 44489574 44489574 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_181489.5 -1 validated p.R530Q 0.021 271 0% 160 15% 3 33.3% probably_damaging(0.999) tolerated(0.7) deleterious(0.492) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SACM1L 22908 genome.wustl.edu 37 3 45751121 45751121 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014016.3 +1 validated p.E155D 0.978 196 0% 121 39.7% 17 58.8% benign(0.104) tolerated(0.1) neutral(0.294) HMMPfam_Syja_N WDR6 11180 genome.wustl.edu 37 3 49051142 49051142 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018031.3 +1 reviewed p.M755I 0.353 39 0% 27 33.3% 176 28.4% benign(0) tolerated(0.5) neutral(0.010) superfamily_WD40 repeat-like LAMB2 3913 genome.wustl.edu 37 3 49161680 49161680 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002292.3 -1 reviewed p.R1123W 1.000 27 0% 20 50% 48 54.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 BSN 8927 genome.wustl.edu 37 3 49689007 49689007 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003458.3 +1 reviewed p.A673V 1.000 54 0% 41 24.4% 0 - benign(0.022) - - NULL ZMYND10 51364 genome.wustl.edu 37 3 50382592 50382592 + Frame_Shift_Del DEL C C - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015896.2 -1 validated p.G55fs 0.998 - - - - - - - - - NULL DOCK3 1795 genome.wustl.edu 37 3 51413179 51413179 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004947.3 +1 validated p.P1805S 1.000 150 0% 119 10.9% 0 - benign(0.004) tolerated(0.16) neutral(0.059) NULL DOCK3 1795 genome.wustl.edu 37 3 51413266 51413266 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004947.3 +1 validated p.G1834C 1.000 125 0% 86 19.8% 0 - probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL POC1A 25886 genome.wustl.edu 37 3 52183236 52183236 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015426.4 -1 validated p.R149C 1.000 52 0% 25 36% 30 50% possibly_damaging(0.896) deleterious(0.02) deleterious(0.736) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 GNL3 26354 genome.wustl.edu 37 3 52727344 52727344 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014366.4 +1 validated p.G396C 1.000 261 0.4% 204 47.1% 156 52.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CACNA2D3 55799 genome.wustl.edu 37 3 54913048 54913048 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018398.2 +1 reviewed p.R572G 0.863 87 0% 55 50.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FOXP1 27086 genome.wustl.edu 37 3 71090537 71090537 + Missense_Mutation SNP T T G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032682.4 -1 reviewed p.M271L 0.984 155 0% 138 24.6% 2 0% benign(0) tolerated(1) - NULL CNTN3 5067 genome.wustl.edu 37 3 74383985 74383985 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020872.1 -1 validated p.V523 0.168 404 0% 214 43% 2 100% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin NSUN3 63899 genome.wustl.edu 37 3 93845073 93845073 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_022072.3 +1 provisional p.L254 0.294 155 0% 79 22.8% 6 0% - - - HMMPfam_Nol1_Nop2_Fmu,superfamily_SSF53335 LOC391556 391556 genome.wustl.edu 37 3 96285463 96285463 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a XM_002342412.1 +1 model p.Q88R 1.000 120 0% 87 26.4% 0 - - - - NULL KALRN 8997 genome.wustl.edu 37 3 124438117 124438117 + Nonsense_Mutation SNP G G T rs184120997 by1000genomes TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001024660.3 +1 reviewed p.E2921* 1.000 93 0% 63 36.5% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HEG1 57493 genome.wustl.edu 37 3 124729337 124729337 + Frame_Shift_Del DEL G G - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020733.1 -1 validated p.R1007fs 0.003 - - - - - - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin RAB43 339122 genome.wustl.edu 37 3 128813954 128813954 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198490.1 -1 validated p.Y88C 1.000 58 0% 41 19.5% 32 31.2% 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 COL6A6 131873 genome.wustl.edu 37 3 130380897 130380898 + Frame_Shift_Del DEL AA AA - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001102608.1 +1 provisional p.K2083fs 1.000:0.998 - - - - - - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like MRPL3 11222 genome.wustl.edu 37 3 131217093 131217093 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_007208.2 -1 reviewed p.T133M 0.938 377 0.3% 150 34.7% 89 39.3% possibly_damaging(0.624) tolerated(0.29) neutral(0.246) HMMPfam_Ribosomal_L3,superfamily_Translation proteins ACPP 55 genome.wustl.edu 37 3 132068794 132068794 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001134194.1 +1 reviewed p.M271T 0.721 271 0% 135 16.3% 1 0% possibly_damaging(0.93) deleterious(0.01) deleterious(0.782) HMMPfam_Acid_phosphat_A,superfamily_SSF53254 DNAJC13 23317 genome.wustl.edu 37 3 132153404 132153404 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015268.3 +1 validated p.I4F 1.000 286 0% 135 44.4% 0 - possibly_damaging(0.491) deleterious(0.03) deleterious(0.528) NULL TF 7018 genome.wustl.edu 37 3 133467344 133467344 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001063.3 +1 reviewed p.H44 0.000 101 0% 32 31.2% 0 - - - - HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II TF 7018 genome.wustl.edu 37 3 133487001 133487001 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001063.3 +1 reviewed p.A539T 1.000 218 0% 140 42.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transferrin,HMMSmart_SM00094,PatternScan_TRANSFERRIN_2,superfamily_Periplasmic binding protein-like II STAG1 10274 genome.wustl.edu 37 3 136068075 136068075 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005862.2 -1 reviewed p.G1066R 1.000 399 0% 157 23.6% 11 9% possibly_damaging(0.696) tolerated(0.13) deleterious(0.502) NULL LOC729687 729687 genome.wustl.edu 37 3 141584057 141584058 + Frame_Shift_Del DEL TG TG - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a XM_001133695.3 -1 model p.Q22fs 0.042:0.043 - - - - - - - - - HMMPfam_HMG14_17,HMMSmart_SM00527 ARHGEF26 26084 genome.wustl.edu 37 3 153935685 153935685 + Missense_Mutation SNP C C G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015595.3 +1 validated p.R625G 0.993 68 0% 17 64.7% 0 - possibly_damaging(0.926) tolerated(0.08) deleterious(0.674) superfamily_DBL homology domain (DH-domain) GMPS 8833 genome.wustl.edu 37 3 155640006 155640006 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003875.2 +1 reviewed p.A450D 1.000 89 0% 32 31.2% 14 50% probably_damaging(0.984) deleterious(0) deleterious(0.875) superfamily_Adenine nucleotide alpha hydrolases-like PPM1L 151742 genome.wustl.edu 37 3 160679655 160679655 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_139245.2 +1 provisional p.D177 1.000 566 0.2% 191 47.1% 1 100% - - - HMMSmart_SM00331,HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C NAALADL2 254827 genome.wustl.edu 37 3 174814823 174814823 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_207015.2 +1 validated p.R96M 1.000 338 0% 194 25.3% 1 0% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL PIK3CA 5290 genome.wustl.edu 37 3 178921549 178921549 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006218.2 +1 reviewed p.V344A 1.000 278 0% 99 47.5% 2 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB PIK3CA 5290 genome.wustl.edu 37 3 178937422 178937422 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006218.2 +1 reviewed p.C604R 1.000 207 0% 104 50% 1 100% possibly_damaging(0.778) deleterious(0) deleterious(0.736) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold CCDC39 339829 genome.wustl.edu 37 3 180334304 180334304 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_181426.1 -1 validated p.Q862H 1.000 148 0% 82 15.9% 1 0% unknown(0) - - NULL ECE2 9718 genome.wustl.edu 37 3 184008917 184008917 + Nonsense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014693.3 +1 validated p.E760* 1.000 56 0% 41 51.2% 0 - - - - "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" CPN2 1370 genome.wustl.edu 37 3 194062762 194062762 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001080513.2 -1 validated p.L224M 0.860 44 0% 27 29.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like MIR573 693158 genome.wustl.edu 37 4 24521840 24521840 + RNA SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000384964 -1 known NULL 0.001 1007 0% 433 37.4% 0 - - - - - SLC30A9 10463 genome.wustl.edu 37 4 42077675 42077675 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006345.3 +1 validated p.A474T 1.000 292 0% 124 47.6% 39 56.4% possibly_damaging(0.729) tolerated(0.06) deleterious(0.588) HMMPfam_Cation_efflux ATP10D 57205 genome.wustl.edu 37 4 47565601 47565601 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020453.3 +1 validated p.A891V 1.000 159 0% 78 15.4% 3 0% possibly_damaging(0.854) deleterious(0) deleterious(0.774) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N NOA1 84273 genome.wustl.edu 37 4 57832825 57832825 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032313.2 -1 provisional p.D575 0.011 293 0% 120 45.8% 88 48.8% - - - NULL ENAM 10117 genome.wustl.edu 37 4 71507811 71507811 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_031889.2 +1 reviewed p.D223G 1.000 1426 0% 765 46.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BMP2K 55589 genome.wustl.edu 37 4 79763642 79763642 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198892.1 +1 reviewed p.L169 1.000 245 0% 111 40.5% 2 100% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase WDFY3 23001 genome.wustl.edu 37 4 85696066 85696066 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014991.4 -1 reviewed p.R1554Q 1.000 536 0% 259 38.2% 0 - possibly_damaging(0.525) tolerated(0.68) neutral(0.179) NULL PTPN13 5783 genome.wustl.edu 37 4 87672020 87672020 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_080685.2 +1 reviewed p.A1016 1.000 169 0% 89 46.1% 0 - - - - NULL MEPE 56955 genome.wustl.edu 37 4 88767395 88767395 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020203.3 +1 validated p.H459N 0.000 353 0% 223 12.1% 0 - benign(0) tolerated(1) - NULL NEUROG2 63973 genome.wustl.edu 37 4 113436014 113436014 + Missense_Mutation SNP G G C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_024019.2 -1 provisional p.D206E 1.000 6 0.000 10 0.500 17 47% possibly_damaging(0.666) tolerated(0.06) deleterious(0.558) NULL MYOZ2 51778 genome.wustl.edu 37 4 120107305 120107305 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016599.3 +1 validated p.T249A 0.793 265 0% 118 44.9% 0 - unknown(0) tolerated(0.3) - HMMPfam_Calsarcin QRFPR 84109 genome.wustl.edu 37 4 122301700 122301700 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198179.2 -1 validated p.V35I 0.999 47 0% 19 31.6% 0 - possibly_damaging(0.744) deleterious(0.03) deleterious(0.637) superfamily_SSF81321 FAT4 79633 genome.wustl.edu 37 4 126238731 126238731 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_024582.4 +1 validated p.A389T 0.677 32 0% 21 28.6% 0 - benign(0.007) deleterious(0.03) neutral(0.364) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126239421 126239421 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_024582.4 +1 validated p.R619C 1.000 95 0% 54 46.3% 0 - probably_damaging(0.987) tolerated(0.07) deleterious(0.756) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PHF17 79960 genome.wustl.edu 37 4 129767597 129767597 + Missense_Mutation SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_199320.2 +1 validated p.Y69S 1.000 429 0% 204 12.3% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EPL1 LRBA 987 genome.wustl.edu 37 4 151518235 151518235 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006726.2 -1 validated p.A2027S 0.000 226 0% 125 42.4% 0 - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_DUF1088 KIAA0922 23240 genome.wustl.edu 37 4 154517412 154517412 + Silent SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015196.3 +1 validated p.G665 0.008 362 0% 208 41.3% 1 0% - - - NULL LRAT 9227 genome.wustl.edu 37 4 155665691 155665691 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004744.3 +1 reviewed p.A71 0.998 85 0% 30 16.7% 5 40% - - - NULL MAP9 79884 genome.wustl.edu 37 4 156269031 156269031 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001039580.1 -1 validated p.I616 1.000 55 0% 48 18.8% 1 0% - - - NULL RXFP1 59350 genome.wustl.edu 37 4 159569721 159569721 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021634.2 +1 provisional p.S609 0.691 169 0% 78 10.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PALLD 23022 genome.wustl.edu 37 4 169842851 169842851 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016081.3 +1 reviewed p.R989Q 1.000 280 0% 159 15.1% 43 18.6% possibly_damaging(0.927) deleterious(0.01) deleterious(0.780) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 FAT1 2195 genome.wustl.edu 37 4 187629443 187629443 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005245.3 -1 reviewed p.D513E 1.000 184 0% 128 15.6% 1 100% benign(0.151) deleterious(0.01) neutral(0.419) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SDHA 6389 genome.wustl.edu 37 5 251543 251543 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004168.2 +1 reviewed p.R585Q 1.000 25 0% 27 33.3% 245 51% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Succ_DH_flav_C,superfamily_Succinate dehydrogenase/fumarate reductase flavoprotein C-terminal domain LPCAT1 79888 genome.wustl.edu 37 5 1474752 1474752 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_024830.3 -1 validated p.L316 1.000 26 0% 20 65% 58 46.5% - - - superfamily_SSF69593 ADAMTS16 170690 genome.wustl.edu 37 5 5262858 5262858 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_139056.2 +1 reviewed p.T917 0.843 169 0% 101 43.6% 3 0% - - - HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat KIAA0947 23379 genome.wustl.edu 37 5 5436543 5436543 + Missense_Mutation SNP T T G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015325.1 +1 validated p.Y33D 1.000 67 0% 42 23.8% 0 - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL KIAA0947 23379 genome.wustl.edu 37 5 5461621 5461621 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015325.1 +1 validated p.Y725C 0.000 139 0.7% 85 12.9% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL MYO10 4651 genome.wustl.edu 37 5 16682114 16682114 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012334.2 -1 validated p.S1352L 0.979 253 0% 103 16.5% 91 39.5% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) superfamily_SSF50729 CDH12 1010 genome.wustl.edu 37 5 21752162 21752162 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004061.3 -1 reviewed p.R690H 1.000 334 0% 199 49.2% 1 0% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Cadherin_C CDH10 1008 genome.wustl.edu 37 5 24487997 24487997 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006727.2 -1 reviewed p.I714 0.952 404 0% 258 17.4% 0 - - - - HMMPfam_Cadherin_C CDH9 1007 genome.wustl.edu 37 5 26881368 26881368 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016279.3 -1 reviewed p.S749 0.013 419 0% 310 40.6% 0 - - - - HMMPfam_Cadherin_C TARS 6897 genome.wustl.edu 37 5 33462278 33462278 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152295.3 +1 reviewed p.A602V 1.000 308 0% 189 11.1% 98 6.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Class II aaRS and biotin synthetases EGFLAM 133584 genome.wustl.edu 37 5 38463079 38463079 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152403.2 +1 validated p.M947I 1.000 112 0% 47 14.9% 1 0% possibly_damaging(0.496) tolerated(0.15) neutral(0.406) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 CARD6 84674 genome.wustl.edu 37 5 40853549 40853549 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032587.3 +1 reviewed p.P705 0.000 943 0.1% 470 20.9% 0 - - - - NULL HEATR7B2 133558 genome.wustl.edu 37 5 41019110 41019110 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_173489.4 -1 validated p.P818S 0.999 153 0% 94 19.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat PARP8 79668 genome.wustl.edu 37 5 50137809 50137809 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_024615.3 +1 validated p.D824 1.000 342 0.9% 195 39% 16 50% - - - superfamily_ADP-ribosylation GZMK 3003 genome.wustl.edu 37 5 54329739 54329739 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002104.2 +1 reviewed p.P260 0.011 342 0% 141 41.1% 1 0% - - - NULL IL6ST 3572 genome.wustl.edu 37 5 55265400 55265400 + Nonsense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002184.2 -1 reviewed p.Y116* 1.000 239 0% 128 21.1% 0 - - - - superfamily_Fibronectin type III MIER3 166968 genome.wustl.edu 37 5 56224613 56224613 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152622.3 -1 validated p.H301R 1.000 286 0% 174 10.9% 4 25% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding PLK2 10769 genome.wustl.edu 37 5 57751414 57751414 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006622.2 -1 validated p.G526D 1.000 126 0% 60 15% 16 18.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_POLO_box,superfamily_SSF82615 DEPDC1B 55789 genome.wustl.edu 37 5 59941338 59941338 + Missense_Mutation SNP T T G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018369.2 -1 validated p.K187Q 1.000 159 0% 100 42% 0 - probably_damaging(0.997) tolerated(0.15) deleterious(0.707) NULL TNPO1 3842 genome.wustl.edu 37 5 72189510 72189510 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002270.3 +1 reviewed p.Q708R 1.000 345 0% 205 23.9% 25 36% benign(0.025) tolerated(0.51) neutral(0.010) superfamily_ARM repeat HEXB 3074 genome.wustl.edu 37 5 74012460 74012460 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000503312 +1 known p.H3Y 0.000 230 0% 160 11.9% 22 0% - - - HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases MSH3 4437 genome.wustl.edu 37 5 80040410 80040410 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002439.3 +1 reviewed p.V580A 1.000 98 0% 60 21.7% 3 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_MutS_III,HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III APC 324 genome.wustl.edu 37 5 112162825 112162825 + Nonsense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000038.4 +1 reviewed p.E477* 1.000 234 0.4% 119 13.4% 2 0% - - - HMMSmart_SM00185,superfamily_ARM repeat APC 324 genome.wustl.edu 37 5 112179274 112179274 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000038.4 +1 reviewed p.I2661 0.997 447 0% 259 42.1% 5 80% - - - NULL CSNK1G3 1456 genome.wustl.edu 37 5 122911444 122911444 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001044723.1 +1 validated p.H154N 1.000 421 0% 209 43.1% 4 25% possibly_damaging(0.895) deleterious(0) deleterious(0.797) superfamily_Kinase_like,HMMPfam_Pkinase EGR1 1958 genome.wustl.edu 37 5 137803620 137803620 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001964.2 +1 reviewed p.S494 0.266 40 0% 35 42.9% 663 44.3% - - - NULL HARS2 23438 genome.wustl.edu 37 5 140076881 140076881 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012208.2 +1 reviewed p.R363C 0.996 110 0% 67 46.3% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF55681 PCDHA3 56145 genome.wustl.edu 37 5 140182271 140182271 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018906.2 +1 reviewed p.R497W 0.415 39 0% 24 66.7% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA4 56144 genome.wustl.edu 37 5 140187153 140187153 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018907.2 +1 reviewed p.N127 0.624 139 0% 59 13.6% 0 - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140250588 140250588 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018902.3 +1 reviewed p.R634C 0.927 18 0.000 9 0.556 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140346798 140346798 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018899.5 +1 reviewed p.P149 0.994 17 0% 15 46.7% 0 - - - - superfamily_Cadherin-like PCDHB5 26167 genome.wustl.edu 37 5 140515730 140515730 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015669.2 +1 reviewed p.N238 0.070 769 0% 302 37.4% 0 - - - - HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140588596 140588596 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018932.3 +1 reviewed p.L39 0.930 174 0% 92 35.9% 0 - - - - HMMPfam_Cadherin_2,superfamily_Cadherin PCDHGA2 56113 genome.wustl.edu 37 5 140719021 140719021 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018915.2 +1 reviewed p.D161 0.020 359 0% 167 21.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA3 56112 genome.wustl.edu 37 5 140724535 140724535 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018916.3 +1 reviewed p.A312V 0.000 271 0% 130 13.8% 0 - benign(0.005) tolerated(0.27) neutral(0.034) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140729957 140729957 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018922.2 +1 reviewed p.R44W 0.000 70 0% 35 48.6% 0 - benign(0.002) deleterious(0.02) neutral(0.383) HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140774691 140774691 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032088.1 +1 reviewed p.P771S 0.487 95 0% 59 33.9% 0 - possibly_damaging(0.438) tolerated(0.55) neutral(0.150) NULL PCDHGA10 56106 genome.wustl.edu 37 5 140793920 140793920 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018913.2 +1 reviewed p.Y393C 0.011 88 0% 37 29.7% 0 - benign(0.002) deleterious(0.01) neutral(0.406) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140794360 140794360 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018913.2 +1 reviewed p.D540N 1.000 144 0% 67 41.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140802617 140802617 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018914.2 +1 reviewed p.R608H 0.970 94 0% 44 11.4% 0 - benign(0.022) tolerated(1) neutral(0.001) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140803165 140803165 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018914.2 +1 reviewed p.P791S 0.362 100 0% 39 10.3% 0 - benign(0.012) tolerated(0.42) neutral(0.015) NULL PLAC8L1 153770 genome.wustl.edu 37 5 145465116 145465116 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001029869.1 -1 provisional p.A101T 1.000 246 0% 120 42.5% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_PLAC8 SPINK5 11005 genome.wustl.edu 37 5 147513405 147513405 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001127698.1 +1 reviewed p.E1077D 0.972 154 0% 76 36.8% 1 100% possibly_damaging(0.822) tolerated(0.06) deleterious(0.633) NULL SH3TC2 79628 genome.wustl.edu 37 5 148392190 148392190 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_024577.3 -1 reviewed p.H1054R 0.998 120 0% 46 15.2% 0 - benign(0.296) deleterious(0.01) deleterious(0.497) HMMSmart_SM00028,superfamily_TPR-like CSNK1A1 1452 genome.wustl.edu 37 5 148929646 148929646 + Silent SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001025105.1 -1 validated p.P74 0.991 89 0% 44 13.6% 105 7.6% - - - superfamily_Kinase_like,HMMPfam_Pkinase NDST1 3340 genome.wustl.edu 37 5 149907773 149907773 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001543.4 +1 validated p.S307 0.010 72 0% 38 10.5% 34 29.4% - - - NULL LSM11 134353 genome.wustl.edu 37 5 157178418 157178418 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_173491.2 +1 provisional p.G157C 1.000 162 0% 127 15% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Sm_like_riboprot RNF145 153830 genome.wustl.edu 37 5 158630642 158630642 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_144726.1 -1 provisional p.K23R 0.000 239 1.7% 176 25.6% 0 - unknown(0) - - NULL UBLCP1 134510 genome.wustl.edu 37 5 158705322 158705322 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_145049.3 +1 validated p.I254T 1.000 324 0% 164 17.7% 15 40% possibly_damaging(0.917) deleterious(0) deleterious(0.812) HMMPfam_NIF,HMMSmart_SM00577,superfamily_HAD-like CPEB4 80315 genome.wustl.edu 37 5 173380158 173380158 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_030627.2 +1 validated p.D615 1.000 563 0% 320 14.1% 8 0% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD NSD1 64324 genome.wustl.edu 37 5 176675305 176675305 + Missense_Mutation SNP C C G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_022455.4 +1 reviewed p.L1541V 0.958 70 0% 31 48.4% 9 44.4% benign(0.18) deleterious(0) neutral(0.461) superfamily_FYVE/PHD zinc finger PROP1 5626 genome.wustl.edu 37 5 177421189 177421189 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006261.4 -1 reviewed p.A87V 1.000 316 0% 130 14.6% 0 - probably_damaging(0.999) tolerated(0.19) deleterious(0.540) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like GRM6 2916 genome.wustl.edu 37 5 178418889 178418889 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000843.3 -1 reviewed p.V234I 1.000 17 0% 11 72.7% 0 - benign(0.002) tolerated(0.27) neutral(0.034) HMMPfam_ANF_receptor,superfamily_SSF53822 CNOT6 57472 genome.wustl.edu 37 5 179992862 179992862 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015455.3 +1 reviewed p.Y201C 1.000 238 0% 148 12.2% 8 0% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_Exo_endo_phos,superfamily_DNase I-like ATXN1 6310 genome.wustl.edu 37 6 16326668 16326668 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000332.3 -1 reviewed p.G625D 0.997 75 0% 25 64% 7 14.2% possibly_damaging(0.927) tolerated(0.27) neutral(0.408) HMMSmart_SM00536,HMMPfam_AXH,superfamily_AXH domain ATXN1 6310 genome.wustl.edu 37 6 16327540 16327540 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000332.3 -1 reviewed p.Y334 0.878 51 0% 21 19% 4 0% - - - NULL SLC17A1 6568 genome.wustl.edu 37 6 25813067 25813067 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005074.3 -1 validated p.I297V 0.000 346 0% 178 20.2% 0 - benign(0.007) tolerated(0.37) neutral(0.019) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC17A3 10786 genome.wustl.edu 37 6 25861869 25861869 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001098486.1 -1 validated p.C203Y 0.200 227 0% 168 13.7% 0 - benign(0.382) deleterious(0.03) deleterious(0.486) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter HIST1H4I 8294 genome.wustl.edu 37 6 27107346 27107346 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003495.2 +1 reviewed p.V87M 1.000 121 0% 40 15% 1 0% probably_damaging(0.954) deleterious(0) deleterious(0.842) HMMSmart_SM00417,HMMSmart_SM00803,HMMPfam_Histone,superfamily_Histone-fold ZFP57 346171 genome.wustl.edu 37 6 29640791 29640791 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001109809.2 -1 reviewed p.C346Y 0.032 508 0% 263 45.6% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PRRC2A 7916 genome.wustl.edu 37 6 31600349 31600349 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_080686.2 +1 reviewed p.R1300H 0.999 142 0% 60 11.7% 116 2.5% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL BRPF3 27154 genome.wustl.edu 37 6 36168897 36168897 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000441123 +1 known p.C239R 0.972 91 0% 56 32.1% 10 60% - - - superfamily_FYVE/PHD zinc finger MOCS1 4337 genome.wustl.edu 37 6 39880704 39880704 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001075098.3 -1 reviewed p.L268 1.000 522 0% 241 45.6% 1 100% - - - HMMSmart_Elp3,HMMPfam_Mob_synth_C,superfamily_SSF102114 LRFN2 57497 genome.wustl.edu 37 6 40360308 40360308 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020737.1 -1 provisional p.A582T 0.664 26 0.000 7 0.571 0 - benign(0.005) tolerated(0.21) neutral(0.044) NULL UBR2 23304 genome.wustl.edu 37 6 42646397 42646397 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015255.2 +1 reviewed p.P1533 0.506 274 0% 132 37.1% 25 44% - - - NULL CUL9 23113 genome.wustl.edu 37 6 43183939 43183940 + Frame_Shift_Ins INS - - TC novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015089.2 +1 validated p.G1994fs 1.000:1.000 - - - - - - - - - NULL SLC22A7 10864 genome.wustl.edu 37 6 43267141 43267141 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_153320.2 +1 reviewed p.C138Y 1.000 65 0% 33 24.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CYP39A1 51302 genome.wustl.edu 37 6 46604150 46604150 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016593.3 -1 reviewed p.C236 0.000 222 0% 129 11.6% 3 0% - - - superfamily_Cytochrome P450 CRISP1 167 genome.wustl.edu 37 6 49819776 49819776 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001131.2 -1 reviewed p.V45I 0.000 513 0% 330 11.8% 0 - possibly_damaging(0.583) tolerated(0.21) neutral(0.244) HMMSmart_SM00198,HMMPfam_SCP,superfamily_PR-1-like DST 667 genome.wustl.edu 37 6 56352050 56352050 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015548.4 -1 reviewed p.A4344T 1.000 93 0% 49 32.7% 0 - benign(0.256) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat LMBRD1 55788 genome.wustl.edu 37 6 70423548 70423548 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018368.3 -1 reviewed p.R302C 0.981 428 0% 306 23.9% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LMBR1 FAM135A 57579 genome.wustl.edu 37 6 71186981 71186981 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001105531.2 +1 validated p.V163A 1.000 169 0% 98 17.3% 3 0% probably_damaging(0.987) tolerated(0.5) neutral(0.447) NULL C6orf57 135154 genome.wustl.edu 37 6 71298420 71298420 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_145267.2 +1 validated p.D107G 1.000 308 0% 150 10.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1674 EEF1A1 1915 genome.wustl.edu 37 6 74227986 74227986 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001402.5 -1 reviewed p.V344A 1.000 89 0% 104 8.7% 7767 8.2% benign(0.02) deleterious(0.03) neutral(0.365) HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain SNX14 57231 genome.wustl.edu 37 6 86252946 86252946 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_153816.3 -1 reviewed p.S448F 1.000 348 0% 119 16.8% 11 9% possibly_damaging(0.941) deleterious(0.03) deleterious(0.751) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS HTR1E 3354 genome.wustl.edu 37 6 87725488 87725488 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000865.2 +1 validated p.V146I 0.996 218 0% 185 48.6% 0 - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) HMMPfam_7tm_1,superfamily_SSF81321 GJB7 375519 genome.wustl.edu 37 6 87994603 87994603 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198568.2 -1 validated p.L10M 1.000 545 0% 375 42.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Connexin RNGTT 8732 genome.wustl.edu 37 6 89324012 89324012 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003800.3 -1 validated p.N537D 1.000 268 0% 178 24.7% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_mRNA_cap_C,superfamily_Nucleic acid-binding proteins MDN1 23195 genome.wustl.edu 37 6 90513155 90513155 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014611.1 -1 provisional p.E74G 1.000 406 0% 154 20.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ASCC3 10973 genome.wustl.edu 37 6 101091990 101091990 + Nonsense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006828.2 -1 validated p.G1217* 1.000 231 0.4% 112 9.8% 7 0% - - - HMMPfam_Sec63,HMMSmart_SEC63,superfamily_SSF52540 QRSL1 55278 genome.wustl.edu 37 6 107097074 107097074 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018292.4 +1 validated p.Y185 1.000 108 0% 73 16.4% 19 21% - - - HMMPfam_Amidase,superfamily_Amidase signature (AS) enzymes CDC40 51362 genome.wustl.edu 37 6 110534295 110534295 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015891.2 +1 reviewed p.S292G 1.000 259 0% 110 41.8% 5 60% possibly_damaging(0.659) deleterious(0) deleterious(0.677) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 HDAC2 3066 genome.wustl.edu 37 6 114267270 114267270 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001527.3 -1 reviewed p.P389L 1.000 337 0% 171 40.9% 166 39.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hist_deacetyl,superfamily_SSF52768 HSF2 3298 genome.wustl.edu 37 6 122740369 122740369 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004506.3 +1 validated p.R196 0.999 191 0% 117 19.7% 4 0% - - - HMMPfam_HSF_DNA-bind TMEM200A 114801 genome.wustl.edu 37 6 130762892 130762892 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_052913.2 +1 provisional p.R442M 1.000 712 0.1% 481 41.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MED23 9439 genome.wustl.edu 37 6 131924291 131924292 + Frame_Shift_Del DEL GT GT - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004830.2 -1 reviewed p.L604fs 1.000:0.915 - - - - - - - - - NULL ENPP1 5167 genome.wustl.edu 37 6 132203595 132203595 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006208.2 +1 reviewed p.Y737 1.000 447 0% 226 46.5% 1 100% - - - HMMSmart_NUC,superfamily_SSF54060 TBPL1 9519 genome.wustl.edu 37 6 134305717 134305717 + Missense_Mutation SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004865.2 +1 reviewed p.Y130S 1.000 223 0% 140 15% 31 25.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TBP,superfamily_TATA-box binding protein-like SGK1 6446 genome.wustl.edu 37 6 134495144 134495146 + In_Frame_Del DEL GGA GGA - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001143676.1 -1 reviewed p.P172in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_Kinase_like ARID1B 57492 genome.wustl.edu 37 6 157528311 157528311 + Nonsense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017519.2 +1 validated p.W1994* 1.000 179 0% 97 45.4% 72 66.6% - - - NULL ARID1B 57492 genome.wustl.edu 37 6 157528935 157528935 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017519.2 +1 validated p.G2202 0.785 234 0.9% 136 17.6% 33 30.3% - - - NULL FNDC1 84624 genome.wustl.edu 37 6 159654714 159654714 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032532.2 +1 validated p.T1057M 0.000 1 0.000 4 1.000 2 0% unknown(0) deleterious(0) - NULL IGF2R 3482 genome.wustl.edu 37 6 160471629 160471629 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000876.2 +1 reviewed p.G880D 0.005 92 0% 56 26.8% 22 45.4% probably_damaging(0.966) tolerated(0.07) deleterious(0.727) superfamily_Mannose 6-phosphate receptor domain RSPH10B 222967 genome.wustl.edu 37 7 5983092 5983092 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_173565.3 -1 validated p.R541C 0.864 268 7.8% 151 21.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CYTH3 9265 genome.wustl.edu 37 7 6205175 6205175 + Splice_Site SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004227.3 -1 reviewed e11+1 1.000 36 0% 50 54% 0 - - - - - THSD7A 221981 genome.wustl.edu 37 7 11509564 11509564 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015204.2 -1 validated p.K770 0.999 36 0% 26 23.1% 0 - - - - superfamily_TSP-1 type 1 repeat C7orf31 136895 genome.wustl.edu 37 7 25175697 25175697 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_138811.3 -1 validated p.R556H 0.263 418 0% 251 43.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL BMPER 168667 genome.wustl.edu 37 7 34118717 34118717 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_133468.3 +1 validated p.S443P 1.000 135 0% 47 21.3% 0 - benign(0.027) tolerated(0.1) neutral(0.288) HMMPfam_VWD,HMMSmart_VWD TBX20 57057 genome.wustl.edu 37 7 35280611 35280611 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001077653.2 -1 reviewed p.V231 0.806 170 0% 103 32% 4 100% - - - HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd ELMO1 9844 genome.wustl.edu 37 7 37298864 37298864 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014800.9 -1 reviewed p.R112Q 1.000 189 0% 112 45.5% 0 - benign(0.051) tolerated(0.44) neutral(0.015) superfamily_ARM repeat GCK 2645 genome.wustl.edu 37 7 44186069 44186069 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_033507.1 -1 reviewed p.V339L 0.999 11 0% 10 60% 0 - benign(0.02) deleterious(0) neutral(0.446) HMMPfam_Hexokinase_2,superfamily_SSF53067 ABCA13 154664 genome.wustl.edu 37 7 48392020 48392020 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152701.3 +1 reviewed p.Q3542K 0.014 45 0% 41 29.3% 0 - benign(0.001) - - NULL ZNF716 441234 genome.wustl.edu 37 7 57522780 57522780 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a XM_002342727.1 +1 model p.G56 0.376 699 0.1% 339 12.4% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) RSBN1L 222194 genome.wustl.edu 37 7 77394895 77394897 + In_Frame_Del DEL AGG AGG - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198467.2 +1 validated p.G477in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL SEMA3A 10371 genome.wustl.edu 37 7 83590796 83590796 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006080.2 -1 reviewed p.R736M 1.000 465 0% 223 14.3% 0 - benign(0.296) deleterious(0.03) neutral(0.456) NULL DBF4 10926 genome.wustl.edu 37 7 87530115 87530115 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006716.3 +1 validated p.S282 0.073 454 0% 203 20.2% 11 45.4% - - - NULL STEAP4 79689 genome.wustl.edu 37 7 87913221 87913222 + Frame_Shift_Ins INS - - A rs34741656 byCluster;byFrequency;by1000genomes TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_024636.2 -1 validated p.A121fs 1.000:1.000 - - - - - - - - - HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains SAMD9 54809 genome.wustl.edu 37 7 92732247 92732247 + Missense_Mutation SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017654.2 -1 validated p.I1055S 1.000 324 0.3% 180 21.1% 0 - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL SLC25A13 10165 genome.wustl.edu 37 7 95750540 95750540 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014251.2 -1 reviewed p.S664L 0.498 340 0% 209 15.3% 24 4.1% benign(0.123) deleterious(0.03) neutral(0.374) NULL PTCD1 26024 genome.wustl.edu 37 7 99022470 99022470 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015545.2 -1 validated p.A562V 1.000 26 0% 23 21.7% 30 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL COPS6 10980 genome.wustl.edu 37 7 99689080 99689080 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006833.4 +1 reviewed p.A260 0.998 211 0% 124 51.6% 298 42.9% - - - NULL POP7 10248 genome.wustl.edu 37 7 100304571 100304571 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005837.2 +1 validated p.N40D 1.000 32 3.1% 29 37.9% 131 55.7% probably_damaging(0.979) tolerated(0.09) deleterious(0.718) HMMPfam_Alba,superfamily_AlbA-like ZAN 7455 genome.wustl.edu 37 7 100365535 100365535 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003386.1 +1 reviewed p.L1648I 0.904 46 0% 18 33.3% 0 - probably_damaging(0.999) tolerated(0.22) deleterious(0.532) HMMPfam_VWD,HMMSmart_SM00216 SRRT 51593 genome.wustl.edu 37 7 100484762 100484762 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015908.5 +1 validated p.R639H 0.999 212 0% 146 45.9% 147 76.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ARS2 NAPEPLD 222236 genome.wustl.edu 37 7 102769021 102769021 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001122838.1 -1 validated p.P68L 1.000 440 0% 263 11.8% 1 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL PNPLA8 50640 genome.wustl.edu 37 7 108154650 108154650 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015723.2 -1 provisional p.R382G 1.000 1306 0.1% 778 14.8% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_ARM repeat FEZF1 389549 genome.wustl.edu 37 7 121942098 121942098 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001024613.2 -1 validated p.P457S 0.951 9 0.000 10 0.400 0 - unknown(0) deleterious(0) - NULL SND1 27044 genome.wustl.edu 37 7 127721425 127721425 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014390.2 +1 validated p.Y661C 1.000 21 0.000 9 0.444 869 49.9% possibly_damaging(0.867) deleterious(0) deleterious(0.781) superfamily_Staphylococal_nuclease_OB-fold OPN1SW 611 genome.wustl.edu 37 7 128415649 128415649 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001708.2 -1 reviewed p.R66W 1.000 270 0% 160 41.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MGAM 8972 genome.wustl.edu 37 7 141755853 141755853 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004668.2 +1 reviewed p.D1179 0.793 53 0% 19 21.1% 0 - - - - NULL TRBV7-8 28590 genome.wustl.edu 37 7 142099665 142099665 + Missense_Mutation SNP G G A rs192558388 by1000genomes TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000390359 -1 known p.S46L 0.025 276 0% 151 46.4% 1 0% benign(0.294) tolerated(0.07) neutral(0.410) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 RHEB 6009 genome.wustl.edu 37 7 151188050 151188050 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005614.3 -1 reviewed p.Y35N 1.000 350 0.3% 167 19.8% 58 32.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 ERICH1 157697 genome.wustl.edu 37 8 623487 623487 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_207332.1 -1 provisional p.D289N 0.016 75 0% 64 28.1% 19 0% possibly_damaging(0.93) deleterious(0.01) deleterious(0.782) NULL FGL1 2267 genome.wustl.edu 37 8 17726161 17726161 + Nonsense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004467.3 -1 reviewed p.W225* 1.000 447 0% 206 41.3% 1 0% - - - HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C CSGALNACT1 55790 genome.wustl.edu 37 8 19363035 19363035 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001130518.1 -1 validated p.A104V 0.020 78 0% 55 29.1% 1 100% benign(0) tolerated(0.38) neutral(0.018) HMMPfam_CHGN NEFM 4741 genome.wustl.edu 37 8 24772112 24772112 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005382.2 +1 reviewed p.A269V 1.000 45 0% 28 53.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament IDO1 3620 genome.wustl.edu 37 8 39776355 39776355 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002164.4 +1 validated p.V109F 0.461 320 0% 140 44.3% 4 25% possibly_damaging(0.931) deleterious(0.01) deleterious(0.783) HMMPfam_IDO RB1CC1 9821 genome.wustl.edu 37 8 53536366 53536366 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014781.4 -1 reviewed p.A1587 0.997 131 0% 70 11.4% 4 25% - - - HMMPfam_ATG11 LYN 4067 genome.wustl.edu 37 8 56879367 56879367 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002350.2 +1 validated p.K295R 1.000 206 0% 147 20.4% 40 17.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) LACTB2 51110 genome.wustl.edu 37 8 71556476 71556476 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016027.2 -1 validated p.V139A 1.000 668 0% 383 14.9% 16 18.7% benign(0.005) tolerated(0.4) neutral(0.016) HMMPfam_Lactamase_B,superfamily_SSF56281 JPH1 56704 genome.wustl.edu 37 8 75157170 75157170 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020647.2 -1 reviewed p.S500N 0.462 257 0% 164 47.6% 3 100% benign(0) tolerated(0.5) neutral(0.010) NULL HNF4G 3174 genome.wustl.edu 37 8 76472655 76472655 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004133.4 +1 validated p.T390 0.994 151 0% 99 13.1% 7 0% - - - NULL WWP1 11059 genome.wustl.edu 37 8 87423953 87423957 + Frame_Shift_Del DEL AATCT AATCT - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 AATCT AATCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_007013.3 +1 validated p.E304fs 0.000:0.000:0.001:0.156:0.175 - - - - - - - - - NULL RIPK2 8767 genome.wustl.edu 37 8 90782098 90782098 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003821.5 +1 reviewed p.P194 1.000 490 0% 287 11.8% 23 8.6% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PDP1 54704 genome.wustl.edu 37 8 94934363 94934363 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018444.3 +1 reviewed p.Y26H 1.000 122 0% 93 14% 20 0% possibly_damaging(0.745) deleterious(0) deleterious(0.718) NULL CCNE2 9134 genome.wustl.edu 37 8 95905056 95905056 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_057749.1 -1 reviewed p.P103S 1.000 64 0% 73 9.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cyclin-like VPS13B 157680 genome.wustl.edu 37 8 100403934 100403934 + Splice_Site SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017890.3 +1 reviewed e20+2 1.000 115 0% 93 15.1% 0 - - - - - LRP12 29967 genome.wustl.edu 37 8 105509713 105509713 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_013437.4 -1 reviewed p.A356D 1.000 219 0% 114 11.4% 3 0% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain OXR1 55074 genome.wustl.edu 37 8 107704962 107704962 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018002.2 +1 validated p.D178Y 1.000 151 0% 86 14% 12 16.6% probably_damaging(0.956) deleterious(0.02) deleterious(0.782) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110439305 110439305 + Missense_Mutation SNP G G C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_177531.4 +1 validated p.V974L 0.989 121 0% 47 23.4% 0 - benign(0.424) deleterious(0) deleterious(0.582) NULL TAF2 6873 genome.wustl.edu 37 8 120807788 120807788 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003184.3 -1 reviewed p.R392H 1.000 412 0.2% 177 33.3% 1 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Peptidase_M1,superfamily_SSF55486 EFR3A 23167 genome.wustl.edu 37 8 132982722 132982722 + Splice_Site SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015137.3 +1 validated e10-1 1.000 160 0% 97 14.4% 0 - - - - - KCNQ3 3786 genome.wustl.edu 37 8 133142021 133142021 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004519.2 -1 reviewed p.T703A 1.000 149 0% 80 58.8% 0 - benign(0) tolerated(0.74) neutral(0.002) NULL ZFAT 57623 genome.wustl.edu 37 8 135621096 135621096 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020863.3 -1 reviewed p.A221T 1.000 165 0% 86 34.9% 1 0% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL EIF2C2 27161 genome.wustl.edu 37 8 141542153 141542153 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000220592 -1 known p.Y857C 1.000 101 0% 84 28.6% 36 47.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC45A4 57210 genome.wustl.edu 37 8 142228981 142228981 + Missense_Mutation SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001080431.1 -1 provisional p.I202S 1.000 19 0% 14 57.1% 16 37.5% possibly_damaging(0.837) deleterious(0.01) deleterious(0.725) HMMPfam_MFS_1,superfamily_MFS general substrate transporter RLN2 6019 genome.wustl.edu 37 9 5304456 5304456 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_134441.1 -1 reviewed p.A42V 0.000 205 0% 102 57.8% 0 - benign(0.003) tolerated(1) - HMMPfam_Insulin,HMMSmart_SM00078,superfamily_Insulin-like KIAA2026 158358 genome.wustl.edu 37 9 5921251 5921251 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001017969.2 -1 validated p.A1582V 1.000 506 0.4% 303 49.8% 2 50% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL LOC402360 402360 genome.wustl.edu 37 9 23681934 23681934 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a XM_002342894.1 +1 model p.H14N 1.000 43 2.3% 23 39.1% 0 - - - - HMMPfam_Nop,superfamily_Nop domain NFX1 4799 genome.wustl.edu 37 9 33319099 33319099 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002504.3 +1 reviewed p.G627D 1.000 147 0% 85 47.1% 11 72.7% probably_damaging(0.96) tolerated(0.23) neutral(0.445) NULL RECK 8434 genome.wustl.edu 37 9 36091312 36091315 + Frame_Shift_Del DEL CTTA CTTA - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 CTTA CTTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021111.2 +1 reviewed p.Y355fs 1.000:1.000:0.999:1.000 - - - - - - - - - NULL RECK 8434 genome.wustl.edu 37 9 36121587 36121587 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021111.2 +1 reviewed p.V866M 1.000 264 0.8% 195 50.8% 0 - possibly_damaging(0.631) deleterious(0.01) deleterious(0.626) NULL FBXO10 26267 genome.wustl.edu 37 9 37521677 37521677 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012166.2 -1 validated p.E697K 1.000 109 0% 54 25.9% 2 50% benign(0.073) tolerated(0.06) neutral(0.328) HMMSmart_CASH TLE1 7088 genome.wustl.edu 37 9 84248275 84248278 + Frame_Shift_Del DEL TCTG TCTG - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 TCTG TCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005077.3 -1 provisional p.D193fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL AGTPBP1 23287 genome.wustl.edu 37 9 88247924 88247926 + In_Frame_Del DEL CTT CTT - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015239.2 -1 validated p.K516in_frame_del 0.989:1.000:1.000 - - - - - - - - - NULL FAM120A 23196 genome.wustl.edu 37 9 96278459 96278459 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000446420 +1 known p.A285V 0.991 107 0.9% 46 45.7% 102 47% - - - NULL FAM22G 441457 genome.wustl.edu 37 9 99699454 99699454 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001045477.2 +1 validated p.P364L 0.001 55 0% 26 42.3% 0 - benign(0) tolerated(0.18) neutral(0.056) NULL NANS 54187 genome.wustl.edu 37 9 100839300 100839303 + Splice_Site DEL GTAA GTAA - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018946.3 +1 reviewed e3+1 1.000:0.999 - - - - - - - - - - ASTN2 23245 genome.wustl.edu 37 9 119204743 119204743 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198187.3 -1 reviewed p.N1196S 1.000 279 0% 123 57.7% 28 17.8% benign(0) tolerated(1) - NULL ASTN2 23245 genome.wustl.edu 37 9 119413833 119413833 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198187.3 -1 reviewed p.L1016F 1.000 129 0% 70 40% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00457 MORN5 254956 genome.wustl.edu 37 9 124929066 124929066 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198469.2 +1 validated p.Y23H 0.996 278 0% 134 10.4% 32 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MORN,HMMSmart_MORN,superfamily_SSF82185 SCAI 286205 genome.wustl.edu 37 9 127764309 127764309 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_173690.4 -1 reviewed p.N383S 1.000 465 0.2% 178 46.6% 2 0% probably_damaging(0.989) tolerated(0.05) deleterious(0.785) NULL LMX1B 4010 genome.wustl.edu 37 9 129455844 129455844 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002316.3 +1 reviewed p.R238 0.319 49 0% 34 23.5% 3 0% - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 GTF3C4 9329 genome.wustl.edu 37 9 135553496 135553496 + Missense_Mutation SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012204.2 +1 validated p.F164I 0.971 163 0% 107 12.1% 9 33.3% benign(0.074) tolerated(0.39) neutral(0.021) NULL COL5A1 1289 genome.wustl.edu 37 9 137716495 137716495 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000093.3 +1 reviewed p.T1583M 1.000 60 1.7% 38 15.8% 14 0% unknown(0) tolerated(0.09) - NULL PPP1R26 9858 genome.wustl.edu 37 9 138378118 138378118 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014811.3 +1 validated p.P588T 0.000 21 0% 23 17.4% 5 20% benign(0.301) tolerated(0.13) neutral(0.346) NULL KLF6 1316 genome.wustl.edu 37 10 3823798 3823799 + Frame_Shift_Del DEL AG AG - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000469435 -1 known p.A237fs 0.000:0.001 - - - - - - - - - NULL FAM188A 80013 genome.wustl.edu 37 10 15838107 15838107 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_024948.2 -1 validated p.D316G 1.000 505 0.2% 297 40.4% 3 33.3% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_EF-hand NSUN6 221078 genome.wustl.edu 37 10 18840887 18840887 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_182543.2 -1 validated p.F312 0.975 240 0.4% 105 28.6% 12 25% - - - HMMPfam_Nol1_Nop2_Fmu,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ABI1 10006 genome.wustl.edu 37 10 27112187 27112187 + Silent SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005470.3 -1 validated p.T55 0.993 659 0% 320 44.1% 20 60% - - - NULL SVIL 6840 genome.wustl.edu 37 10 29812666 29812666 + Silent SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021738.2 -1 reviewed p.R959 0.000 400 0% 202 13.9% 4 0% - - - NULL KIAA1462 57608 genome.wustl.edu 37 10 30315945 30315945 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020848.2 -1 validated p.S1044 0.003 389 0% 154 12.3% 0 - - - - NULL ZNF248 57209 genome.wustl.edu 37 10 38121881 38121881 + Missense_Mutation SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021045.1 -1 provisional p.N134K 0.149 460 0% 347 16.1% 0 - benign(0.002) tolerated(1) - NULL LOC728064 728064 genome.wustl.edu 37 10 43178874 43178874 + RNA SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a XR_015196.2 -1 model NULL 0.001 49 0% 13 30.8% 0 - - - - - PCDH15 65217 genome.wustl.edu 37 10 56077053 56077053 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001142763.1 -1 reviewed p.A290V 0.533 311 0% 209 47.4% 0 - benign(0.017) tolerated(0.58) neutral(0.005) HMMPfam_Cadherin,superfamily_Cadherin-like ANK3 288 genome.wustl.edu 37 10 61828830 61828830 + Nonsense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020987.2 -1 reviewed p.Q3937* 1.000 554 0% 440 13.4% 0 - - - - NULL ARID5B 84159 genome.wustl.edu 37 10 63759944 63759944 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032199.2 +1 validated p.S199 0.136 327 0% 186 50.5% 5 40% - - - NULL JMJD1C 221037 genome.wustl.edu 37 10 64967056 64967056 + Nonsense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032776.1 -1 validated p.L1458* 0.169 341 0% 218 50.9% 1 0% - - - NULL TET1 80312 genome.wustl.edu 37 10 70333859 70333859 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_030625.2 +1 validated p.R588 0.995 267 0% 120 11.7% 0 - - - - HMMPfam_zf-CXXC H2AFY2 55506 genome.wustl.edu 37 10 71835451 71835451 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018649.2 +1 validated p.L13 1.000 91 0% 42 38.1% 59 49.1% - - - HMMSmart_H2A,superfamily_Histone-fold CDH23 64072 genome.wustl.edu 37 10 73572362 73572362 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_022124.5 +1 reviewed p.T3169N 1.000 38 0% 23 34.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL USP54 159195 genome.wustl.edu 37 10 75301249 75301249 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152586.3 -1 provisional p.R237C 1.000 426 0% 226 17.3% 3 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_Cysteine proteinases AGAP5 729092 genome.wustl.edu 37 10 75451802 75451802 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001144000.1 -1 validated p.H132R 1.000 304 0% 162 22.8% 0 - possibly_damaging(0.484) deleterious(0) deleterious(0.605) NULL KCNMA1 3778 genome.wustl.edu 37 10 78709099 78709099 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001014797.2 -1 reviewed p.V783A 1.000 264 0% 157 45.9% 13 30.7% benign(0.045) tolerated(0.17) neutral(0.061) NULL PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G T rs121913292 TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000371953 +1 known p.R130L 1.000 648 0% 383 92.2% 34 97% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II LIPK 643414 genome.wustl.edu 37 10 90499808 90499808 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001080518.1 +1 provisional p.M291T 1.000 279 0.7% 114 90.4% 0 - benign(0.29) deleterious(0.03) neutral(0.454) HMMPfam_Abhydrolase_1,superfamily_SSF53474 HTR7 3363 genome.wustl.edu 37 10 92502271 92502271 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_019859.3 -1 reviewed p.T470A 1.000 202 0% 105 43.8% 0 - unknown(0) deleterious(0) - NULL CYP26C1 340665 genome.wustl.edu 37 10 94828180 94828180 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_183374.2 +1 reviewed p.R432H 1.000 6 0.000 6 0.667 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_p450,superfamily_Cytochrome_P450 ALDH18A1 5832 genome.wustl.edu 37 10 97393392 97393392 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002860.3 -1 reviewed p.N191K 0.983 240 0% 138 14.5% 318 5.3% benign(0.001) tolerated(0.74) neutral(0.002) HMMPfam_AA_kinase,superfamily_Carbamate kinase-like C10orf62 414157 genome.wustl.edu 37 10 99349956 99349956 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001009997.2 +1 validated p.S101Y 0.027 74 0% 56 44.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SEC31B 25956 genome.wustl.edu 37 10 102249969 102249969 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015490.3 -1 reviewed p.G921C 0.010 104 0% 70 18.6% 0 - benign(0.236) deleterious(0.04) neutral(0.372) NULL FAM178A 55719 genome.wustl.edu 37 10 102684152 102684152 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001136123.1 +1 validated p.T465M 0.249 511 0% 246 17.9% 0 - benign(0.07) tolerated(0.08) neutral(0.305) NULL PPRC1 23082 genome.wustl.edu 37 10 103899384 103899384 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015062.3 +1 reviewed p.R373 0.996 188 0% 123 43.9% 16 56.2% - - - NULL NOLC1 9221 genome.wustl.edu 37 10 103920666 103920668 + In_Frame_Del DEL TTC TTC - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004741.3 +1 validated p.S522in_frame_del 0.238:0.344:0.376 - - - - - - - - - NULL SORCS1 114815 genome.wustl.edu 37 10 108431071 108431071 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001013031.1 -1 reviewed p.R705W 0.972 436 0.2% 330 17.3% 0 - possibly_damaging(0.847) deleterious(0.02) deleterious(0.708) HMMSmart_VPS10 SHOC2 8036 genome.wustl.edu 37 10 112769508 112769508 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_007373.3 +1 reviewed p.P487L 1.000 145 0% 74 18.9% 15 13.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like PNLIPRP2 5408 genome.wustl.edu 37 10 118380845 118380847 + In_Frame_Del DEL CTC CTC - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005396.4 +1 validated p.L13in_frame_del 0.963:0.998:1.000 - - - - - - - - - NULL EIF3A 8661 genome.wustl.edu 37 10 120830448 120830448 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003750.2 -1 validated p.E231K 1.000 153 0% 76 39.5% 55 43.6% unknown(0) deleterious(0.01) - NULL TACC2 10579 genome.wustl.edu 37 10 124009111 124009111 + Missense_Mutation SNP G G A rs114931291 byCluster;by1000genomes TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_206862.2 +1 reviewed p.A2905T 0.999 40 0.000 9 0.556 40 57.5% possibly_damaging(0.864) deleterious(0) deleterious(0.779) HMMPfam_TACC DOCK1 1793 genome.wustl.edu 37 10 129207609 129207609 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000398025 +1 known p.D1478N 0.976 248 0% 81 40.7% 5 40% benign(0.001) tolerated(0.31) neutral(0.027) NULL DOCK1 1793 genome.wustl.edu 37 10 129231578 129231578 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000398025 +1 known p.R1694H 0.999 440 0% 191 16.2% 20 15% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL MKI67 4288 genome.wustl.edu 37 10 129905112 129905113 + Frame_Shift_Del DEL TG TG - rs145960091 by1000genomes TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002417.4 -1 reviewed p.T1664fs 0.000:0.000 - - - - - - - - - HMMPfam_K167R MUC5B 727897 genome.wustl.edu 37 11 1263812 1263812 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002458.1 +1 validated p.P1904L 0.000 134 0% 72 16.7% 445 36.6% benign(0.014) - - NULL CARS 833 genome.wustl.edu 37 11 3063406 3063406 + Missense_Mutation SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001014437.1 -1 reviewed p.T119S 1.000 46 0% 31 48.4% 42 45.2% possibly_damaging(0.861) deleterious(0.04) deleterious(0.682) superfamily_SSF52374 NUP98 4928 genome.wustl.edu 37 11 3741975 3741975 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016320.4 -1 reviewed p.C743R 1.000 292 0% 163 12.3% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nucleoporin2,superfamily_Peptidase_S59 OR51F1 256892 genome.wustl.edu 37 11 4790536 4790536 + Missense_Mutation SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001004752.1 -1 provisional p.D204E 0.000 435 0% 198 11.1% 0 - benign(0) deleterious(0.02) neutral(0.383) HMMPfam_7tm_1,superfamily_SSF81321 OR51I1 390063 genome.wustl.edu 37 11 5462483 5462483 + Missense_Mutation SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001005288.2 -1 validated p.C88G 1.000 422 0% 258 45.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like UBQLNL 143630 genome.wustl.edu 37 11 5536690 5536690 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_145053.4 -1 validated p.A328T 0.464 160 0% 130 18.5% 0 - benign(0) tolerated(1) - NULL TPP1 1200 genome.wustl.edu 37 11 6637258 6637258 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000391.3 -1 reviewed p.R375C 1.000 49 0% 47 48.9% 116 42.2% probably_damaging(1) tolerated(0.05) deleterious(0.845) superfamily_Subtilisin-like OR2D2 120776 genome.wustl.edu 37 11 6913686 6913686 + Nonsense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003700.1 -1 provisional p.G16* 0.997 517 0% 309 11.7% 0 - - - - superfamily_SSF81321 ZNF214 7761 genome.wustl.edu 37 11 7022739 7022739 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_013249.2 -1 validated p.L59I 0.640 527 0% 361 12.2% 0 - probably_damaging(0.969) tolerated(0.27) neutral(0.445) NULL TUB 7275 genome.wustl.edu 37 11 8118899 8118899 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003320.4 +1 reviewed p.R326Q 0.998 207 0% 78 23.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Tub,superfamily_Tubby_C SCUBE2 57758 genome.wustl.edu 37 11 9051481 9051481 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020974.2 -1 validated p.G789V 1.000 255 0% 133 13.5% 0 - probably_damaging(0.999) tolerated(0.22) deleterious(0.532) superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3 USP47 55031 genome.wustl.edu 37 11 11969594 11969594 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017944.3 +1 validated p.V997A 1.000 371 0% 280 17.5% 6 0% benign(0.366) tolerated(0.98) neutral(0.117) NULL COPB1 1315 genome.wustl.edu 37 11 14504652 14504652 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001144061.1 -1 reviewed p.N295D 1.000 102 0% 50 16% 48 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM-type_fold USH1C 10083 genome.wustl.edu 37 11 17542444 17542444 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_153676.3 -1 reviewed p.H395Y 1.000 599 0% 262 42.7% 42 19% possibly_damaging(0.513) deleterious(0.01) deleterious(0.578) NULL IGSF22 283284 genome.wustl.edu 37 11 18735673 18735673 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_173588.3 -1 validated p.S607 0.000 66 0% 31 35.5% 0 - - - - HMMPfam_I-set,superfamily_SSF48726 LOC645490 645490 genome.wustl.edu 37 11 20595812 20595812 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a XM_928515.4 +1 model p.G190 0.323 96 0% 37 21.6% 0 - - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box EHF 26298 genome.wustl.edu 37 11 34680110 34680110 + Missense_Mutation SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012153.4 +1 validated p.I213N 1.000 258 0% 158 40.5% 70 60% probably_damaging(0.998) deleterious(0) deleterious(0.919) "HMMPfam_Ets,HMMSmart_SM00413,superfamily_""Winged helix"" DNA-binding domain" OR5D18 219438 genome.wustl.edu 37 11 55587764 55587764 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001001952.1 +1 provisional p.A220V 0.000 322 0% 214 41.1% 0 - benign(0) tolerated(0.96) - HMMPfam_7tm_1,superfamily_SSF81321 FAM111B 374393 genome.wustl.edu 37 11 58893105 58893105 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198947.3 +1 validated p.C512Y 0.001 746 0% 471 21.9% 15 40% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_Trypsin-like serine proteases STX3 6809 genome.wustl.edu 37 11 59562951 59562951 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004177.4 +1 reviewed p.R261Q 1.000 172 0% 124 46% 21 52.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL AHNAK 79026 genome.wustl.edu 37 11 62286156 62286156 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001620.1 -1 validated p.G5245C 0.170 188 0% 102 15.7% 23 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FLRT1 23769 genome.wustl.edu 37 11 63883877 63883877 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_013280.4 +1 reviewed p.T46 0.975 32 0% 16 43.8% 4 100% - - - superfamily_L domain-like SART1 9092 genome.wustl.edu 37 11 65733607 65733607 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005146.4 +1 reviewed p.A300V 1.000 24 0% 15 26.7% 146 34.9% possibly_damaging(0.915) tolerated(0.05) deleterious(0.712) HMMPfam_SART-1 CATSPER1 117144 genome.wustl.edu 37 11 65792930 65792930 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_053054.3 -1 reviewed p.G307 0.000 27 0% 20 20% 0 - - - - superfamily_Voltage-gated potassium channels C11orf24 53838 genome.wustl.edu 37 11 68029140 68029140 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_022338.3 -1 validated p.N441 0.880 44 0% 16 56.2% 79 40.5% - - - NULL IGHMBP2 3508 genome.wustl.edu 37 11 68675701 68675701 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002180.2 +1 reviewed p.T115 0.168 220 0% 82 40.2% 5 80% - - - NULL XRRA1 143570 genome.wustl.edu 37 11 74562149 74562149 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_182969.1 -1 validated p.R447Q 0.986 85 0% 38 47.4% 4 25% benign(0.006) tolerated(0.11) neutral(0.272) superfamily_L domain-like PRKRIR 5612 genome.wustl.edu 37 11 76063668 76063668 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004705.2 -1 provisional p.M176V 0.998 232 0% 121 44.6% 1 100% benign(0.081) tolerated(0.06) neutral(0.329) NULL ENSG00000214391 0 genome.wustl.edu 37 11 90016931 90016931 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000318973 +1 known p.H360 1.000 369 0% 212 45.3% 0 - - - - superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C CCDC67 159989 genome.wustl.edu 37 11 93170813 93170813 + Silent SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_181645.3 +1 validated p.I581 0.960 307 0% 266 15% 0 - - - - NULL DDI1 414301 genome.wustl.edu 37 11 103907910 103907910 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001001711.2 +1 validated p.P120 0.000 64 0% 38 44.7% 0 - - - - NULL C11orf87 399947 genome.wustl.edu 37 11 109294891 109294891 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_207645.3 +1 validated p.A178T 0.447 100 0% 49 22.4% 0 - benign(0) deleterious(0) neutral(0.445) NULL SIK2 23235 genome.wustl.edu 37 11 111591637 111591637 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015191.1 +1 validated p.R599G 1.000 214 0% 97 17.5% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) FAM55A 120400 genome.wustl.edu 37 11 114401418 114401418 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000424269 -1 known p.T104 0.995 774 0% 365 44.9% 0 - - - - NULL SIK3 23387 genome.wustl.edu 37 11 116728623 116728623 + Silent SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000445177 -1 known p.F1180V 0.995 125 0% 80 12.5% 6 33.3% - - - NULL PHLDB1 23187 genome.wustl.edu 37 11 118499174 118499174 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001144758.1 +1 validated p.G545 1.000 7 0.000 8 0.500 1 0% - - - NULL MCAM 4162 genome.wustl.edu 37 11 119183299 119183299 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006500.2 -1 validated p.R267C 0.332 59 0% 67 14.9% 18 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ZNF202 7753 genome.wustl.edu 37 11 123597537 123597537 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003455.2 -1 validated p.T372I 0.741 523 0% 283 13.8% 1 0% probably_damaging(0.978) tolerated(0.18) deleterious(0.476) NULL ADAMTS15 170689 genome.wustl.edu 37 11 130343337 130343337 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_139055.2 +1 reviewed p.V825A 0.989 44 0% 32 37.5% 1 100% benign(0.215) tolerated(0.25) neutral(0.058) NULL TULP3 7289 genome.wustl.edu 37 12 3047355 3047355 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003324.4 +1 reviewed p.V367I 0.998 245 0% 137 42.3% 11 27.2% benign(0.001) tolerated(0.35) neutral(0.021) HMMPfam_Tub,superfamily_Transcriptional factor tubby C-terminal domain C12orf4 57102 genome.wustl.edu 37 12 4627308 4627308 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020374.2 -1 predicted p.A317T 1.000 559 0% 366 50.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2362 ANO2 57101 genome.wustl.edu 37 12 5853389 5853389 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020373.2 -1 validated p.A425T 1.000 166 0% 118 47.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NCAPD2 9918 genome.wustl.edu 37 12 6637024 6637024 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014865.3 +1 validated p.R997C 1.000 277 0% 142 33.1% 82 54.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat NANOGP1 404635 genome.wustl.edu 37 12 8051415 8051415 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000316043 +1 known p.Q205 0.315 316 0% 96 18.8% 0 - - - - NULL KLRC4 8302 genome.wustl.edu 37 12 10562069 10562069 + Nonsense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_013431.2 -1 reviewed p.Q36* 0.022 475 0% 212 13.7% 0 - - - - NULL KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 byCluster TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_033360.2 -1 reviewed p.G12V 1.000 73 0% 42 38.1% 14 42.8% benign(0.048) deleterious(0) neutral(0.448) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ERGIC2 51290 genome.wustl.edu 37 12 29509341 29509341 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016570.2 -1 validated p.A182 0.995 244 0.4% 120 15.8% 57 29.8% - - - HMMPfam_DUF1692 CAPRIN2 65981 genome.wustl.edu 37 12 30862859 30862859 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001002259.1 -1 validated p.G1121C 1.000 329 0% 215 20.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like TSPAN11 441631 genome.wustl.edu 37 12 31106946 31106946 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001080509.2 +1 validated p.E7 0.997 166 0% 72 47.2% 0 - - - - NULL TSPAN11 441631 genome.wustl.edu 37 12 31132560 31132560 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001080509.2 +1 validated p.P137 0.183 83 0% 22 18.2% 1 0% - - - superfamily_Tetraspanin,HMMPfam_Tetraspannin LRRK2 120892 genome.wustl.edu 37 12 40637403 40637403 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198578.3 +1 reviewed p.V253A 1.000 523 0% 339 19.5% 0 - probably_damaging(0.98) tolerated(0.35) neutral(0.445) superfamily_ARM-type_fold PDZRN4 29951 genome.wustl.edu 37 12 41966638 41966638 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_013377.3 +1 validated p.A428V 1.000 321 0% 262 13.7% 0 - benign(0.16) deleterious(0.01) neutral(0.420) NULL MLL2 8085 genome.wustl.edu 37 12 49438725 49438725 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003482.3 -1 validated p.G1589C 1.000 87 0% 61 18% 3 0% unknown(0) - - NULL LMBR1L 55716 genome.wustl.edu 37 12 49491747 49491747 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018113.2 -1 validated p.A461V 1.000 220 0% 92 48.9% 22 40.9% possibly_damaging(0.952) tolerated(0.07) deleterious(0.715) NULL LMBR1L 55716 genome.wustl.edu 37 12 49496930 49496930 + Missense_Mutation SNP T T G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018113.2 -1 validated p.Y192S 1.000 73 1.4% 38 23.7% 39 20.5% possibly_damaging(0.918) tolerated(0.25) neutral(0.405) HMMPfam_LMBR1 CSRNP2 81566 genome.wustl.edu 37 12 51467729 51467729 + Silent SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_030809.1 -1 provisional p.A96 1.000 448 0.2% 263 41.8% 7 42.8% - - - NULL TFCP2 7024 genome.wustl.edu 37 12 51503011 51503011 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005653.4 -1 reviewed p.E204K 1.000 299 0% 151 48.3% 16 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CP2 ESPL1 9700 genome.wustl.edu 37 12 53685840 53685840 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012291.4 +1 validated p.R1922C 1.000 141 0% 61 29.5% 22 54.5% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Peptidase_C50 ERBB3 2065 genome.wustl.edu 37 12 56481891 56481891 + Missense_Mutation SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001982.2 +1 reviewed p.E273D 0.976 137 0% 80 11.3% 17 17.6% probably_damaging(0.998) tolerated(0.16) deleterious(0.534) HMMPfam_Furin-like,superfamily_Growth factor receptor domain ERBB3 2065 genome.wustl.edu 37 12 56482438 56482438 + Missense_Mutation SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001982.2 +1 reviewed p.K329T 1.000 451 0% 230 44.8% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Furin-like,superfamily_L domain-like ATP5B 506 genome.wustl.edu 37 12 57038657 57038657 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001686.3 -1 reviewed p.P131 0.995 149 0% 90 13.3% 548 34.6% - - - superfamily_N-terminal domain of alpha and beta subunits of F1 ATP synthase TBK1 29110 genome.wustl.edu 37 12 64854074 64854074 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_013254.2 +1 reviewed p.K65E 1.000 153 0% 79 19% 2 0% benign(0.002) tolerated(1) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CPSF6 11052 genome.wustl.edu 37 12 69656154 69656154 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_007007.2 +1 validated p.R491C 1.000 231 0% 96 22.9% 50 26% unknown(0) deleterious(0.02) - NULL NAV3 89795 genome.wustl.edu 37 12 78400367 78400368 + Frame_Shift_Ins INS - - AA novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014903.4 +1 validated p.Q352fs 0.433:0.177 - - - - - - - - - NULL LRRIQ1 84125 genome.wustl.edu 37 12 85450472 85450472 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001079910.1 +1 validated p.E634G 0.156 311 0% 157 12.1% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) superfamily_RNI-like AMDHD1 144193 genome.wustl.edu 37 12 96360232 96360232 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152435.2 +1 validated p.H380R 1.000 424 0% 122 12.3% 0 - benign(0.283) tolerated(0.35) neutral(0.107) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases SLC17A8 246213 genome.wustl.edu 37 12 100796122 100796122 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_139319.2 +1 reviewed p.M256I 1.000 287 0% 150 40.7% 0 - unknown(0) tolerated(0.44) - HMMPfam_MFS_1,superfamily_MFS general substrate transporter UTP20 27340 genome.wustl.edu 37 12 101684633 101684633 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014503.2 +1 validated p.K286N 1.000 507 0% 254 21.3% 1 100% possibly_damaging(0.931) tolerated(0.22) neutral(0.419) superfamily_ARM repeat STAB2 55576 genome.wustl.edu 37 12 104084222 104084222 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017564.9 +1 reviewed p.T1068I 0.031 70 0% 38 28.9% 0 - benign(0.079) tolerated(0.29) neutral(0.035) HMMPfam_Fasciclin,HMMSmart_FAS1,superfamily_BIgH3_FAS1 STAB2 55576 genome.wustl.edu 37 12 104111613 104111613 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017564.9 +1 reviewed p.C1559 0.985 509 0% 246 20.3% 0 - - - - HMMSmart_EGF,superfamily_SSF57196 HCFC2 29915 genome.wustl.edu 37 12 104492166 104492166 + Nonsense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_013320.2 +1 reviewed p.R596* 1.000 188 0% 125 44% 5 0% - - - HMMSmart_SM00060,superfamily_Fibronectin type III TXNRD1 7296 genome.wustl.edu 37 12 104742191 104742191 + Nonstop_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000429002 +1 known p.*652R 1.000 220 0% 139 42.4% 69 52.1% - - - NULL SLC41A2 84102 genome.wustl.edu 37 12 105321815 105321815 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032148.3 -1 validated p.L164P 0.968 526 0% 297 16.2% 8 0% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL TCP11L2 255394 genome.wustl.edu 37 12 106705002 106705002 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152772.1 +1 provisional p.S50Y 1.000 81 0% 52 40.4% 1 0% probably_damaging(0.981) deleterious(0.03) deleterious(0.790) NULL MYO1H 283446 genome.wustl.edu 37 12 109843838 109843838 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001101421.3 +1 provisional p.K305E 1.000 198 0% 77 11.7% 0 - possibly_damaging(0.804) tolerated(0.95) neutral(0.302) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases NOS1 4842 genome.wustl.edu 37 12 117768818 117768818 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000620.2 -1 reviewed p.R19 0.187 141 0% 45 20% 0 - - - - HMMPfam_PDZ,superfamily_PDZ domain-like GCN1L1 10985 genome.wustl.edu 37 12 120575456 120575456 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006836.1 -1 validated p.Y2186H 1.000 77 0% 39 43.6% 48 39.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_ARM repeat ZCCHC8 55596 genome.wustl.edu 37 12 122958255 122958255 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017612.2 -1 validated p.G638V 0.675 434 0% 215 43.7% 21 71.4% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL HCAR1 27198 genome.wustl.edu 37 12 123214498 123214498 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032554.3 -1 validated p.R130Q 0.983 184 0% 85 47.1% 1 0% benign(0.255) tolerated(0.3) neutral(0.055) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SLC15A4 121260 genome.wustl.edu 37 12 129278853 129278853 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_145648.3 -1 validated p.A541D 0.990 89 0% 56 12.5% 34 29.4% possibly_damaging(0.874) tolerated(0.05) deleterious(0.685) superfamily_MFS general substrate transporter SFSWAP 6433 genome.wustl.edu 37 12 132237681 132237681 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004592.2 +1 reviewed p.A365 1.000 180 0% 114 48.2% 32 56.2% - - - NULL TPTE2 93492 genome.wustl.edu 37 13 20006719 20006719 + Splice_Site SNP C C G rs75793549 TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_199254.2 -1 validated e16-1 1.000 221 6.3% 108 13% 0 - - - - - XPO4 64328 genome.wustl.edu 37 13 21370324 21370324 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_022459.4 -1 validated p.R896 0.990 332 0% 163 12.9% 3 0% - - - superfamily_ARM-type_fold SACS 26278 genome.wustl.edu 37 13 23909322 23909322 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014363.4 -1 reviewed p.R2898H 1.000 159 0% 108 48.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL WASF3 10810 genome.wustl.edu 37 13 27256923 27256923 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006646.5 +1 reviewed p.T388N 0.000 35 0% 20 50% 12 66.6% benign(0.086) tolerated(0.18) neutral(0.062) NULL GPR12 2835 genome.wustl.edu 37 13 27333098 27333098 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005288.3 -1 validated p.P289 0.521 43 0% 23 69.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like POMP 51371 genome.wustl.edu 37 13 29238679 29238679 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015932.4 +1 validated p.S45 1.000 247 0% 97 42.3% 91 56% - - - HMMPfam_UMP1 BRCA2 675 genome.wustl.edu 37 13 32932011 32932011 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000059.3 +1 reviewed p.G2584C 1.000 577 0% 261 11.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical NBEA 26960 genome.wustl.edu 37 13 35716412 35716412 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015678.4 +1 validated p.K781 1.000 417 0% 199 51.8% 0 - - - - superfamily_ARM repeat KIAA0564 23078 genome.wustl.edu 37 13 42293729 42293729 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015058.1 -1 validated p.K1038 1.000 205 0% 99 39.4% 11 54.5% - - - NULL TDRD3 81550 genome.wustl.edu 37 13 61102848 61102848 + Nonsense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_030794.2 +1 validated p.K404* 1.000 275 0% 169 15.4% 2 50% - - - NULL MYCBP2 23077 genome.wustl.edu 37 13 77629710 77629710 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015057.4 -1 validated p.C4506S 1.000 261 0% 174 13.2% 22 13.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IPO5 3843 genome.wustl.edu 37 13 98671949 98671949 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002271.4 +1 reviewed p.P1002H 0.998 299 0% 157 14% 205 26.3% benign(0.02) tolerated(0.2) neutral(0.050) superfamily_ARM-type_fold DAOA 267012 genome.wustl.edu 37 13 106142224 106142224 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000454325 +1 known p.P58S 0.008 118 0% 67 46.3% 0 - - - - NULL FAM70B 348013 genome.wustl.edu 37 13 114498139 114498139 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_182614.2 +1 provisional p.F91L 1.000 68 0% 24 20.8% 12 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL CDC16 8881 genome.wustl.edu 37 13 115028491 115028491 + Splice_Site SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001078645.1 +1 reviewed e16+2 1.000 348 0% 208 18.8% 0 - - - - - OR4K2 390431 genome.wustl.edu 37 14 20345046 20345046 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001005501.1 +1 provisional p.A207V 0.771 577 0% 338 50.3% 0 - possibly_damaging(0.815) tolerated(0.09) deleterious(0.604) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4K5 79317 genome.wustl.edu 37 14 20388832 20388832 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001005483.1 +1 provisional p.L23F 0.002 666 0% 464 14.7% 0 - benign(0.356) deleterious(0.01) deleterious(0.519) superfamily_SSF81321 MMP14 4323 genome.wustl.edu 37 14 23313602 23313602 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004995.2 +1 reviewed p.R345M 1.000 156 0% 68 10.3% 78 2.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 NGDN 25983 genome.wustl.edu 37 14 23947228 23947228 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001042635.1 +1 validated p.R314Q 1.000 282 0% 146 12.3% 23 4.3% unknown(0) tolerated(0.33) - NULL RNF31 55072 genome.wustl.edu 37 14 24627349 24627349 + Splice_Site SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017999.4 +1 validated e18-2 0.998 95 0% 63 54% 1 100% - - - - FANCM 57697 genome.wustl.edu 37 14 45653023 45653023 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020937.2 +1 reviewed p.C1478Y 0.000 185 0% 66 15.2% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL MAP4K5 11183 genome.wustl.edu 37 14 50895429 50895429 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006575.3 -1 reviewed p.S759 1.000 20 0% 14 35.7% 5 80% - - - HMMPfam_CNH,HMMSmart_SM00036 TXNDC16 57544 genome.wustl.edu 37 14 52937281 52937281 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020784.2 -1 validated p.V477E 0.574 338 0% 193 21.8% 0 - probably_damaging(0.991) tolerated(0.34) neutral(0.467) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin C14orf37 145407 genome.wustl.edu 37 14 58605170 58605170 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001001872.2 -1 predicted p.A303S 0.022 149 0% 99 49.5% 0 - benign(0.046) tolerated(0.56) neutral(0.009) NULL ARID4A 5926 genome.wustl.edu 37 14 58831834 58831834 + Silent SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002892.3 +1 reviewed p.L1009 0.118 436 0% 209 11% 1 0% - - - NULL SLC39A9 55334 genome.wustl.edu 37 14 69922504 69922504 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018375.3 +1 validated p.N205S 1.000 416 0.2% 211 13.7% 48 12.5% probably_damaging(0.968) tolerated(0.68) neutral(0.412) HMMPfam_Zip RGS6 9628 genome.wustl.edu 37 14 72921238 72921238 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004296.4 +1 validated p.T63A 0.996 477 0% 201 18.4% 1 0% benign(0) tolerated(0.86) neutral(0.001) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" PSEN1 5663 genome.wustl.edu 37 14 73659520 73659520 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000021.3 +1 reviewed p.K239 1.000 319 0% 265 12.8% 54 0% - - - HMMPfam_Presenilin,HMMSmart_SM00730 YLPM1 56252 genome.wustl.edu 37 14 75265122 75265122 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_019589.2 +1 validated p.R1041H 1.000 444 0% 226 23.5% 16 12.5% possibly_damaging(0.924) deleterious(0) deleterious(0.818) NULL SNW1 22938 genome.wustl.edu 37 14 78217746 78217746 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012245.2 -1 reviewed p.M82I 1.000 247 0% 140 48.6% 16 43.7% benign(0.001) tolerated(0.19) neutral(0.050) NULL SEL1L 6400 genome.wustl.edu 37 14 81955615 81955615 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005065.4 -1 validated p.Y459C 1.000 495 0% 200 39.5% 29 34.4% probably_damaging(0.997) tolerated(0.16) deleterious(0.526) HMMPfam_Sel1,HMMSmart_SM00671,superfamily_HCP-like SETD3 84193 genome.wustl.edu 37 14 99932086 99932086 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032233.2 -1 validated p.T19 0.071 219 0% 145 48.3% 11 45.4% - - - NULL LOC100288131 100288131 genome.wustl.edu 37 14 101194887 101194887 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a XM_002343290.1 -1 model p.G79 0.015 18 0.000 7 0.571 0 - - - - NULL PPP2R5C 5527 genome.wustl.edu 37 14 102348535 102348535 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002719.3 +1 reviewed p.S111Y 1.000 139 1.4% 30 26.7% 71 29.5% possibly_damaging(0.908) tolerated(0.07) deleterious(0.680) HMMPfam_B56,superfamily_ARM repeat CYFIP1 23191 genome.wustl.edu 37 15 22947029 22947029 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014608.2 +1 validated p.E434 1.000 201 0% 101 10.9% 131 15.2% - - - HMMPfam_FragX_IP C15orf2 23742 genome.wustl.edu 37 15 24922475 24922475 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018958.2 +1 reviewed p.V487 0.000 643 0% 479 46.3% 0 - - - - NULL LOC100288637 100288637 genome.wustl.edu 37 15 31042673 31042673 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a XM_002343359.1 +1 model p.P22H 0.998 196 0% 93 15.1% 1 0% - - - NULL SLC12A6 9990 genome.wustl.edu 37 15 34548436 34548436 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_133647.1 -1 reviewed p.V247M 1.000 485 0% 203 36.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AA_permease NUSAP1 51203 genome.wustl.edu 37 15 41663828 41663828 + Missense_Mutation SNP G G A rs143641947 by1000genomes TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016359.3 +1 validated p.E318K 0.997 96 0% 61 13.1% 37 2.7% benign(0) tolerated(1) - NULL EPB42 2038 genome.wustl.edu 37 15 43507315 43507315 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000119.2 -1 reviewed p.L166 0.995 134 0% 103 46.6% 0 - - - - superfamily_Ig_E-set SLC30A4 7782 genome.wustl.edu 37 15 45783053 45783053 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_013309.4 -1 validated p.L189 0.926 370 0% 263 36.5% 0 - - - - HMMPfam_Cation_efflux FAM81A 145773 genome.wustl.edu 37 15 59752262 59752262 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152450.2 +1 validated p.A51T 1.000 268 0% 161 45.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL HERC1 8925 genome.wustl.edu 37 15 64019996 64019996 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003922.3 -1 reviewed p.I1066V 1.000 284 0% 157 60.5% 1 0% benign(0) - - NULL ZWILCH 55055 genome.wustl.edu 37 15 66801186 66801186 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017975.3 +1 validated p.N21D 0.999 101 1% 45 11.1% 1 0% benign(0) tolerated(0.72) neutral(0.002) NULL SENP8 123228 genome.wustl.edu 37 15 72432394 72432394 + Nonsense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_145204.3 +1 reviewed p.G144* 0.998 257 0% 185 15.7% 1 100% - - - HMMPfam_Peptidase_C48,superfamily_SSF54001 NEIL1 79661 genome.wustl.edu 37 15 75644553 75644553 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_024608.2 +1 validated p.R179Q 1.000 75 0% 42 16.7% 13 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_S13-like H2TH domain,HMMPfam_H2TH SIN3A 25942 genome.wustl.edu 37 15 75684761 75684763 + In_Frame_Del DEL GTT GTT - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001145357.1 -1 reviewed p.N891in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL ALPK3 57538 genome.wustl.edu 37 15 85400602 85400602 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020778.4 +1 validated p.S1080N 0.000 29 0% 37 43.2% 0 - possibly_damaging(0.83) deleterious(0) deleterious(0.760) NULL RLBP1 6017 genome.wustl.edu 37 15 89761830 89761830 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000326.4 -1 reviewed p.P36L 0.000 40 0% 25 44% 0 - benign(0.083) tolerated(0.19) neutral(0.056) NULL SV2B 9899 genome.wustl.edu 37 15 91795123 91795123 + Nonsense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014848.4 +1 validated p.R176* 1.000 146 0% 84 44% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter CHD2 1106 genome.wustl.edu 37 15 93467598 93467598 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001271.3 +1 reviewed p.S37L 1.000 999 0.1% 284 45.8% 4 50% unknown(0) deleterious(0) - NULL SYNM 23336 genome.wustl.edu 37 15 99671456 99671456 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000336292 +1 known p.M963T 0.967 10 0.000 9 0.444 1 100% possibly_damaging(0.452) deleterious(0) deleterious(0.593) NULL ZNF200 7752 genome.wustl.edu 37 16 3273955 3273955 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003454.3 -1 validated p.R375 0.997 611 0% 331 18.1% 7 57.1% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF263 10127 genome.wustl.edu 37 16 3340127 3340128 + Frame_Shift_Del DEL GA GA - rs186225306 by1000genomes TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005741.4 +1 validated p.R544fs 1.000:1.000 - - - - - - - - - NULL TRAP1 10131 genome.wustl.edu 37 16 3740897 3740897 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016292.2 -1 validated p.S60G 0.964 62 0% 22 54.5% 137 45.2% benign(0.177) deleterious(0.01) neutral(0.422) NULL CLEC16A 23274 genome.wustl.edu 37 16 11260318 11260318 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000261657 +1 known p.R97W 1.000 53 0% 34 20.6% 11 18.1% - - - NULL MKL2 57496 genome.wustl.edu 37 16 14280827 14280827 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000341243 +1 known p.G19E 1.000 149 0% 115 20.9% 0 - benign(0.004) tolerated(0.52) neutral(0.009) NULL NOMO1 23420 genome.wustl.edu 37 16 14970275 14970275 + Nonsense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014287.3 +1 reviewed p.Q806* 1.000 630 0.2% 267 11.6% 70 0% - - - NULL SMG1 23049 genome.wustl.edu 37 16 18907388 18907388 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015092.4 -1 reviewed p.M133T 1.000 155 0% 76 34.2% 0 - possibly_damaging(0.448) deleterious(0.01) deleterious(0.552) NULL TMC5 79838 genome.wustl.edu 37 16 19501868 19501868 + Missense_Mutation SNP T T G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001105248.1 +1 validated p.F909V 1.000 903 0% 412 47.6% 21 57.1% possibly_damaging(0.555) tolerated(0.12) neutral(0.450) NULL GP2 2813 genome.wustl.edu 37 16 20325989 20325989 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001007240.1 -1 validated p.P515 0.008 304 0% 273 44% 51 56.8% - - - NULL DNAH3 55567 genome.wustl.edu 37 16 21063004 21063004 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017539.1 -1 provisional p.D1409N 1.000 264 0% 131 19.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases COG7 91949 genome.wustl.edu 37 16 23453915 23453915 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_153603.3 -1 reviewed p.M163V 1.000 593 0% 333 15.6% 27 33.3% benign(0.012) tolerated(0.34) neutral(0.024) HMMPfam_COG7 TNRC6A 27327 genome.wustl.edu 37 16 24826565 24826565 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014494.2 +1 reviewed p.I1590M 1.000 341 0.6% 71 38% 0 - possibly_damaging(0.929) tolerated(0.09) deleterious(0.672) NULL ARHGAP17 55114 genome.wustl.edu 37 16 24931471 24931471 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001006634.1 -1 validated p.T876A 0.182 133 0% 74 12.2% 45 15.5% benign(0.001) deleterious(0) neutral(0.445) NULL APOBR 55911 genome.wustl.edu 37 16 28508889 28508889 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018690.2 +1 reviewed p.A834T 0.029 87 0% 57 15.8% 1 0% benign(0.269) tolerated(0.31) neutral(0.056) NULL ZNF689 115509 genome.wustl.edu 37 16 30616383 30616383 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_138447.1 -1 provisional p.C235 1.000 114 0% 47 17% 4 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CES5A 221223 genome.wustl.edu 37 16 55883625 55883625 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001143685.1 -1 validated p.T445M 0.000 607 0% 283 45.2% 0 - possibly_damaging(0.952) tolerated(0.48) neutral(0.406) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases CPNE2 221184 genome.wustl.edu 37 16 57171150 57171150 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152727.4 +1 reviewed p.V420M 1.000 114 0% 59 13.6% 131 24.4% possibly_damaging(0.856) deleterious(0.03) deleterious(0.695) HMMSmart_VWA,HMMPfam_Copine,superfamily_SSF53300 POLR2C 5432 genome.wustl.edu 37 16 57500138 57500138 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032940.2 +1 reviewed p.R86Q 1.000 760 0% 330 41.8% 112 45.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_RBP11-like subunits of RNA polymerase,HMMPfam_RNA_pol_L,HMMPfam_RNA_pol_A_bac,superfamily_Insert subdomain of RNA polymerase alpha subunit,HMMSmart_SM00662 CNOT1 23019 genome.wustl.edu 37 16 58572108 58572108 + Missense_Mutation SNP C C T rs185344213 by1000genomes TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016284.3 -1 validated p.R1733H 1.000 301 0% 191 12.6% 59 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CDH11 1009 genome.wustl.edu 37 16 64984770 64984770 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001797.2 -1 reviewed p.N598 0.159 79 0% 38 42.1% 7 14.2% - - - HMMSmart_SM00112,superfamily_Cadherin-like SLC9A5 6553 genome.wustl.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004594.2 +1 validated p.E706in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL EDC4 23644 genome.wustl.edu 37 16 67909957 67909957 + Silent SNP T T G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014329.3 +1 validated p.T64 0.645 107 0% 76 28.9% 22 54.5% - - - NULL PLA2G15 23659 genome.wustl.edu 37 16 68289816 68289817 + Frame_Shift_Ins INS - - C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012320.3 +1 reviewed p.K218fs 1.000:1.000 - - - - - - - - - HMMPfam_LACT,superfamily_alpha/beta-Hydrolases NFAT5 10725 genome.wustl.edu 37 16 69681410 69681410 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_138713.2 +1 reviewed p.A245T 1.000 246 0% 116 56.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NFAT5 10725 genome.wustl.edu 37 16 69726141 69726141 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_138713.2 +1 reviewed p.T805A 0.950 514 0% 294 11.6% 0 - benign(0) tolerated(1) - NULL ANKRD11 29123 genome.wustl.edu 37 16 89337251 89337251 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_013275.4 -1 validated p.V2594M 1.000 20 0% 12 41.7% 22 31.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL TUBB3 10381 genome.wustl.edu 37 16 90001903 90001903 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006086.2 +1 validated p.N348 0.990 55 0% 58 51.7% 33 57.5% - - - superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C ARRB2 409 genome.wustl.edu 37 17 4623554 4623554 + Missense_Mutation SNP T T G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004313.3 +1 reviewed p.S321A 1.000 93 0% 75 14.7% 70 21.4% benign(0.003) deleterious(0) neutral(0.445) HMMPfam_Arrestin_C,superfamily_E set domains SLC13A5 284111 genome.wustl.edu 37 17 6599187 6599187 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_177550.3 -1 validated p.E305K 1.000 137 0% 98 45.9% 0 - possibly_damaging(0.804) deleterious(0.01) deleterious(0.708) HMMPfam_Na_sulph_symp SLC2A4 6517 genome.wustl.edu 37 17 7186567 7186570 + Frame_Shift_Del DEL GGGG GGGG - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 GGGG GGGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001042.2 +1 reviewed p.G13fs 0.889:0.875:0.711:0.726 - - - - - - - - - superfamily_MFS_gen_substrate_transporter NLGN2 57555 genome.wustl.edu 37 17 7318071 7318071 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020795.2 +1 reviewed p.A250T 1.000 56 0% 60 50% 4 0% possibly_damaging(0.888) deleterious(0.03) deleterious(0.712) HMMPfam_COesterase,superfamily_SSF53474 TP53 7157 genome.wustl.edu 37 17 7577563 7577563 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000546.4 -1 reviewed p.S240G 1.000 167 0% 75 14.7% 205 10.7% possibly_damaging(0.812) tolerated(0.2) neutral(0.354) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 WRAP53 55135 genome.wustl.edu 37 17 7604841 7604841 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018081.2 +1 validated p.A266T 1.000 109 0% 63 23.8% 25 20% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMSmart_WD40,superfamily_WD40_like CHD3 1107 genome.wustl.edu 37 17 7811750 7811750 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001005271.2 +1 reviewed p.R1787L 1.000 153 0.7% 131 17.6% 60 41.6% probably_damaging(1) - - NULL GUCY2D 3000 genome.wustl.edu 37 17 7915536 7915536 + Silent SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000180.3 +1 reviewed p.A608 0.000 63 1.6% 37 10.8% 0 - - - - superfamily_Kinase_like,HMMPfam_Pkinase SPDYE4 388333 genome.wustl.edu 37 17 8656781 8656783 + In_Frame_Del DEL TCC TCC - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001128076.1 -1 provisional p.E170in_frame_del 0.189:0.203:0.290 - - - - - - - - - NULL USP43 124739 genome.wustl.edu 37 17 9631817 9631817 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_153210.3 +1 validated p.M961T 0.000 41 0% 27 48.1% 5 60% benign(0) tolerated(0.52) neutral(0.009) NULL MYH3 4621 genome.wustl.edu 37 17 10533470 10533472 + In_Frame_Del DEL TTC TTC - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002470.2 -1 reviewed p.K1833in_frame_del 0.794:0.960:0.978 - - - - - - - - - HMMPfam_Myosin_tail_1 CCDC144A 9720 genome.wustl.edu 37 17 16610846 16610846 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014695.1 +1 provisional p.K243M 0.029 185 0% 83 10.8% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL MYO15A 51168 genome.wustl.edu 37 17 18023067 18023067 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016239.3 +1 reviewed p.P318H 0.963 21 0% 15 40% 0 - unknown(0) - - NULL B9D1 27077 genome.wustl.edu 37 17 19246703 19246703 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015681.3 -1 reviewed p.G182S 1.000 54 0% 26 23.1% 29 24.1% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SPAG5 10615 genome.wustl.edu 37 17 26911669 26911669 + Splice_Site SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006461.3 -1 reviewed e11+1 1.000 229 0% 136 15.4% 0 - - - - - PHF12 57649 genome.wustl.edu 37 17 27240275 27240275 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001033561.1 -1 validated p.A438 0.994 121 0% 43 41.9% 22 40.9% - - - NULL PIPOX 51268 genome.wustl.edu 37 17 27370349 27370349 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016518.2 +1 validated p.L36 1.000 134 0% 64 18.8% 0 - - - - HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain ENSG00000228768 0 genome.wustl.edu 37 17 29902622 29902622 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000412403 +1 known p.V133 0.000 40 0% 41 61% 0 - - - - NULL CDK5R1 8851 genome.wustl.edu 37 17 30815154 30815154 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003885.2 +1 reviewed p.T172 1.000 14 0% 13 46.2% 2 50% - - - HMMPfam_CDK5_activator,superfamily_Cyclin-like ACACA 31 genome.wustl.edu 37 17 35444285 35444285 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198834.1 -1 reviewed p.R2373L 1.000 98 0% 53 11.3% 37 0% possibly_damaging(0.657) deleterious(0.01) deleterious(0.637) NULL SRCIN1 80725 genome.wustl.edu 37 17 36708714 36708714 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_025248.2 -1 validated p.G817R 0.907 8 0.000 12 0.333 2 0% possibly_damaging(0.662) tolerated(0.11) deleterious(0.506) NULL ENSG00000246237 0 genome.wustl.edu 37 17 38209481 38209481 + RNA SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000501516 +1 novel NULL 0.001 73 0% 74 45.9% 0 - - - - - KRT28 162605 genome.wustl.edu 37 17 38953471 38953471 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_181535.3 -1 reviewed p.P251 0.003 118 0% 62 29% 0 - - - - HMMPfam_Filament ITGA2B 3674 genome.wustl.edu 37 17 42454433 42454433 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000419.3 -1 reviewed p.S737 0.986 12 0.000 9 0.444 0 - - - - HMMPfam_Integrin_alpha2,superfamily_Integrin domains C17orf104 284071 genome.wustl.edu 37 17 42744904 42744904 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001145080.2 +1 validated p.A542V 1.000 118 0% 76 15.8% 0 - benign(0.212) tolerated(0.15) neutral(0.262) NULL BZRAP1 9256 genome.wustl.edu 37 17 56390032 56390032 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004758.2 -1 validated p.R717H 0.999 17 0.000 8 0.750 0 - probably_damaging(0.982) tolerated(0.09) deleterious(0.723) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 RNF43 54894 genome.wustl.edu 37 17 56435378 56435378 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017763.4 -1 validated p.P587S 0.864 126 0% 58 12.1% 3 0% benign(0.315) tolerated(0.08) neutral(0.398) NULL HEATR6 63897 genome.wustl.edu 37 17 58132926 58132926 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_022070.4 -1 validated p.Y747N 1.000 112 0% 80 50% 16 68.7% possibly_damaging(0.545) tolerated(0.19) neutral(0.234) superfamily_ARM-type_fold TACO1 51204 genome.wustl.edu 37 17 61684783 61684783 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_016360.3 +1 reviewed p.V218I 1.000 290 0% 183 12.6% 65 12.3% probably_damaging(0.975) tolerated(0.28) neutral(0.449) HMMPfam_DUF28,superfamily_YebC-like CCDC47 57003 genome.wustl.edu 37 17 61829374 61829374 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020198.2 -1 validated p.R433W 1.000 300 0% 138 10.1% 189 4.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1682 ERN1 2081 genome.wustl.edu 37 17 62175585 62175585 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001433.3 -1 reviewed p.S24N 1.000 279 0% 150 42% 2 100% benign(0.003) tolerated(0.16) neutral(0.059) superfamily_Quinoprotein alcohol dehydrogenase-like NOL11 25926 genome.wustl.edu 37 17 65718702 65718702 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015462.3 +1 provisional p.T156 0.592 203 0% 104 12.5% 10 0% - - - NULL BPTF 2186 genome.wustl.edu 37 17 65850454 65850454 + Nonsense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_182641.3 +1 reviewed p.K338* 0.656 254 0% 213 24.4% 8 0% - - - NULL BPTF 2186 genome.wustl.edu 37 17 65900909 65900909 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_182641.3 +1 reviewed p.K922R 0.991 357 0% 139 12.9% 2 0% probably_damaging(0.981) tolerated(0.65) neutral(0.428) NULL MIR635 693220 genome.wustl.edu 37 17 66420621 66420621 + RNA SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000384830 -1 known NULL 0.000 48 0% 14 28.6% 2 50% - - - - ABCA9 10350 genome.wustl.edu 37 17 66980228 66980228 + Nonsense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_080283.3 -1 reviewed p.R1490* 1.000 248 0% 148 48% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases KCNJ2 3759 genome.wustl.edu 37 17 68171947 68171947 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000891.2 +1 reviewed p.S256N 1.000 185 0% 125 16.8% 0 - benign(0.001) tolerated(0.49) neutral(0.011) HMMPfam_IRK,superfamily_E set domains SDK2 54549 genome.wustl.edu 37 17 71364667 71364667 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001144952.1 -1 provisional p.E1682D 0.999 17 0% 16 25% 1 0% probably_damaging(0.977) tolerated(0.23) neutral(0.460) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SLC16A5 9121 genome.wustl.edu 37 17 73089833 73089833 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004695.2 +1 provisional p.I34 0.079 208 0.5% 99 40.4% 5 60% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter UBE2O 63893 genome.wustl.edu 37 17 74387074 74387074 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_022066.3 -1 validated p.R1277W 1.000 38 0% 24 37.5% 26 46.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PDE6G 5148 genome.wustl.edu 37 17 79620238 79620238 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002602.3 -1 reviewed p.R33Q 1.000 158 0% 99 16.2% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_PDE6_gamma ENOSF1 55556 genome.wustl.edu 37 18 675400 675400 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_202758.2 -1 validated p.V391A 1.000 42 0% 34 26.5% 32 18.7% benign(0.013) tolerated(0.11) neutral(0.272) superfamily_SSF51604 TGIF1 7050 genome.wustl.edu 37 18 3451995 3451995 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_170695.2 +1 reviewed p.S6 0.001 43 0% 16 43.8% 8 87.5% - - - NULL LAMA1 284217 genome.wustl.edu 37 18 6986214 6986214 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005559.2 -1 validated p.L1767 0.000 276 0% 112 18.8% 8 12.5% - - - superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I SPIRE1 56907 genome.wustl.edu 37 18 12506551 12506551 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001128626.1 -1 validated p.I299 0.956 482 0% 263 17.9% 2 0% - - - NULL NPC1 4864 genome.wustl.edu 37 18 21148892 21148892 + Missense_Mutation SNP A A C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000271.4 -1 reviewed p.F120V 1.000 162 0% 100 14% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LAMA3 3909 genome.wustl.edu 37 18 21478720 21478720 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198129.1 +1 reviewed p.R1878C 0.835 445 0% 204 11.8% 1 0% possibly_damaging(0.873) deleterious(0.03) deleterious(0.704) HMMPfam_Laminin_I OSBPL1A 114876 genome.wustl.edu 37 18 21912974 21912974 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_080597.2 -1 reviewed p.R186Q 1.000 206 0% 71 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat DSG4 147409 genome.wustl.edu 37 18 28972130 28972130 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001134453.1 +1 reviewed p.I278V 1.000 221 0% 166 19.3% 0 - possibly_damaging(0.618) tolerated(0.79) neutral(0.216) HMMPfam_Cadherin,superfamily_Cadherin ASXL3 80816 genome.wustl.edu 37 18 31324282 31324282 + Silent SNP C C A rs185893902 by1000genomes TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_030632.1 +1 provisional p.S1490 0.406 134 0% 51 41.2% 0 - - - - NULL ZBTB7C 201501 genome.wustl.edu 37 18 45566976 45566976 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001039360.1 -1 validated p.T168M 0.203 91 0% 83 50.6% 21 90.4% benign(0.365) deleterious(0.04) neutral(0.465) NULL ALPK2 115701 genome.wustl.edu 37 18 56246440 56246440 + Frame_Shift_Del DEL T T - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_052947.3 -1 validated p.K523fs 0.000 - - - - - - - - - NULL ADNP2 22850 genome.wustl.edu 37 18 77895891 77895891 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014913.3 +1 validated p.G865 0.000 70 0% 56 10.7% 19 15.7% - - - NULL SHC2 25759 genome.wustl.edu 37 19 434853 434853 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012435.2 -1 validated p.P322 0.831 17 0.118 7 0.857 1 0% - - - NULL MOB3A 126308 genome.wustl.edu 37 19 2078510 2078510 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_130807.2 -1 validated p.R17H 1.000 26 0% 17 35.3% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF77 58492 genome.wustl.edu 37 19 2933788 2933788 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021217.2 -1 validated p.S446N 0.000 234 0% 139 17.3% 6 33.3% benign(0.033) tolerated(0.28) neutral(0.033) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 TUBB4A 10382 genome.wustl.edu 37 19 6495952 6495952 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006087.2 -1 provisional p.T186 0.013 467 0.2% 191 12.6% 0 - - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like INSR 3643 genome.wustl.edu 37 19 7117280 7117280 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000208.2 -1 reviewed p.P1312 0.009 263 0% 142 12.7% 6 0% - - - NULL ARHGEF18 23370 genome.wustl.edu 37 19 7523496 7523496 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001130955.1 +1 reviewed p.G572 0.976 85 0% 51 11.8% 10 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CLEC4G 339390 genome.wustl.edu 37 19 7794385 7794385 + Nonsense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198492.3 -1 validated p.W250* 1.000 59 0% 37 73% 0 - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ZNF317 57693 genome.wustl.edu 37 19 9268075 9268075 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000419608 +1 known p.K112 0.381 514 0% 259 18.5% 0 - - - - HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF561 93134 genome.wustl.edu 37 19 9721118 9721118 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_152289.2 -1 validated p.R407S 0.000 944 0.1% 526 19.4% 18 27.7% benign(0.076) tolerated(0.43) neutral(0.019) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SWSAP1 126074 genome.wustl.edu 37 19 11486212 11486212 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_175871.3 +1 validated p.P70 1.000 508 0.2% 243 11.9% 8 37.5% - - - superfamily_SSF52540 MAN2B1 4125 genome.wustl.edu 37 19 12760754 12760754 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000528.3 -1 reviewed p.S747I 1.000 418 0% 229 46.3% 239 51.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C ASNA1 439 genome.wustl.edu 37 19 12849336 12849336 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004317.2 +1 validated p.A58V 1.000 153 0.7% 82 15.9% 251 30.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_ArsA_ATPase,superfamily_P-loop containing nucleoside triphosphate hydrolases PKN1 5585 genome.wustl.edu 37 19 14578406 14578406 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_213560.1 +1 reviewed p.P593 0.000 34 0% 50 20% 55 7.2% - - - NULL ARRDC2 27106 genome.wustl.edu 37 19 18120435 18120435 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015683.1 +1 validated p.R175Q 1.000 21 0% 21 19% 6 0% benign(0.301) tolerated(0.38) neutral(0.111) superfamily_E set domains ZNF66P 7617 genome.wustl.edu 37 19 20975342 20975342 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000425625 +1 known p.A56T 0.142 443 0% 159 52.8% 2 0% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF66P 7617 genome.wustl.edu 37 19 20989034 20989034 + Missense_Mutation SNP T T G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000425625 +1 known p.F256V 0.305 782 0% 273 42.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF66P 7617 genome.wustl.edu 37 19 20989315 20989315 + Missense_Mutation SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000425625 +1 known p.H349Q 0.945 1170 0% 389 39.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF99 7652 genome.wustl.edu 37 19 22940428 22940428 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001080409.1 -1 provisional p.C670 0.001 911 0.1% 357 41.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 TSHZ3 57616 genome.wustl.edu 37 19 31770067 31770067 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020856.2 -1 validated p.A211V 1.000 254 0.4% 132 39.4% 1 100% possibly_damaging(0.762) deleterious(0) deleterious(0.727) NULL WDR62 284403 genome.wustl.edu 37 19 36594596 36594596 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001083961.1 +1 validated p.G1289D 1.000 36 0% 27 25.9% 17 5.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL IL29 282618 genome.wustl.edu 37 19 39787521 39787521 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_172140.1 +1 reviewed p.Q83R 0.692 376 0% 241 14.1% 0 - benign(0.223) tolerated(0.1) neutral(0.308) NULL PAF1 54623 genome.wustl.edu 37 19 39876915 39876915 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_019088.2 -1 provisional p.E438K 0.999 198 0% 93 17.2% 557 24.2% unknown(0) tolerated(0.31) - HMMPfam_Paf1 FBL 2091 genome.wustl.edu 37 19 40331138 40331138 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001436.3 -1 reviewed p.G67S 0.618 1043 0% 613 14% 193 38.3% unknown(0) deleterious(0.01) - NULL FCGBP 8857 genome.wustl.edu 37 19 40419740 40419740 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003890.2 -1 validated p.Q1085R 0.005 232 0% 113 10.6% 6 16.6% probably_damaging(0.99) tolerated(0.21) deleterious(0.485) HMMPfam_C8 ZNF780B 163131 genome.wustl.edu 37 19 40541305 40541305 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001005851.2 -1 validated p.Q487 0.000 573 0.2% 387 48.6% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PRX 57716 genome.wustl.edu 37 19 40900361 40900361 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_181882.2 -1 reviewed p.A1300T 0.000 20 0% 18 22.2% 0 - possibly_damaging(0.621) tolerated(0.12) deleterious(0.477) NULL AXL 558 genome.wustl.edu 37 19 41748792 41748792 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021913.3 +1 reviewed p.K439N 0.997 237 0.4% 93 12.9% 1 0% benign(0.046) tolerated(0.31) neutral(0.029) NULL LIPE 3991 genome.wustl.edu 37 19 42906917 42906917 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005357.2 -1 reviewed p.V937I 0.000 30 0% 19 47.4% 14 28.5% benign(0.059) tolerated(0.16) neutral(0.064) HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases LIPE 3991 genome.wustl.edu 37 19 42931022 42931022 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005357.2 -1 reviewed p.A94T 0.031 335 0% 152 12.5% 0 - benign(0.195) deleterious(0) neutral(0.463) NULL DMWD 1762 genome.wustl.edu 37 19 46289541 46289542 + In_Frame_Ins INS - - CTC novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004943.1 -1 validated p.404in_frame_insE 1.000:1.000 - - - - - - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 IZUMO1 284359 genome.wustl.edu 37 19 49248936 49248936 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_182575.2 -1 validated p.V61M 0.000 164 0% 103 44.7% 0 - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL SLC6A16 28968 genome.wustl.edu 37 19 49813612 49813612 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014037.2 -1 validated p.M191V 0.838 180 0% 89 13.5% 0 - possibly_damaging(0.637) tolerated(1) neutral(0.223) HMMPfam_SNF SIGLEC8 27181 genome.wustl.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014442.2 -1 validated p.L8in_frame_del 0.633:0.759:0.808 - - - - - - - - - NULL ZNF816 125893 genome.wustl.edu 37 19 53453251 53453251 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001031665.1 -1 validated p.Y593H 0.508 487 0.2% 223 20.2% 6 33.3% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LENG9 94059 genome.wustl.edu 37 19 54973909 54973909 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198988.1 -1 validated p.S289 0.000 21 0% 23 47.8% 12 66.6% - - - NULL BRSK1 84446 genome.wustl.edu 37 19 55812939 55812939 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032430.1 +1 validated p.G246 0.635 10 0.000 9 0.778 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase BRSK1 84446 genome.wustl.edu 37 19 55817695 55817695 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032430.1 +1 validated p.V656I 1.000 25 0% 13 46.2% 2 0% probably_damaging(0.972) tolerated(0.06) deleterious(0.736) NULL NLRP13 126204 genome.wustl.edu 37 19 56423761 56423761 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_176810.2 -1 validated p.D474 0.000 189 0% 156 46.8% 0 - - - - NULL ZNF471 57573 genome.wustl.edu 37 19 57036138 57036138 + Silent SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020813.2 +1 validated p.Y234 0.025 256 0% 214 15.9% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ATRN 8455 genome.wustl.edu 37 20 3541429 3541429 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_139321.2 +1 reviewed p.Y442H 1.000 158 0% 81 18.5% 5 0% probably_damaging(0.997) tolerated(0.26) deleterious(0.500) superfamily_Galactose oxidase central domain OTOR 56914 genome.wustl.edu 37 20 16730654 16730654 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020157.2 +1 reviewed p.T121M 1.000 89 0% 52 25% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_SH3 SNX5 27131 genome.wustl.edu 37 20 17932180 17932180 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014426.2 -1 reviewed p.V191 1.000 197 0% 125 11.2% 23 8.6% - - - HMMPfam_Vps5 DZANK1 55184 genome.wustl.edu 37 20 18435999 18435999 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001099407.1 -1 validated p.C90 1.000 75 0% 43 16.3% 0 - - - - NULL ASXL1 171023 genome.wustl.edu 37 20 30956920 30956920 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015338.5 +1 reviewed p.T82 1.000 315 0.3% 210 13.8% 10 20% - - - NULL AHCY 191 genome.wustl.edu 37 20 32878188 32878188 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000687.2 -1 reviewed p.V308I 1.000 316 0% 156 48.1% 1689 50.6% benign(0) tolerated(0.22) neutral(0.042) HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Formate/glycerate dehydrogenase catalytic domain-like FAM83C 128876 genome.wustl.edu 37 20 33875517 33875517 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_178468.4 -1 validated p.P355 0.067 26 0% 23 34.8% 0 - - - - NULL C20orf152 140894 genome.wustl.edu 37 20 34568457 34568457 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_080834.1 +1 predicted p.V107A 0.748 138 0% 82 36.6% 0 - benign(0.057) deleterious(0.01) neutral(0.409) superfamily_cNMP_binding ZSWIM1 90204 genome.wustl.edu 37 20 44511876 44511876 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_080603.4 +1 validated p.T215 0.000 91 0% 60 36.7% 9 33.3% - - - NULL CTSA 5476 genome.wustl.edu 37 20 44521056 44521056 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000308.2 +1 reviewed p.L144P 0.999 108 0% 51 54.9% 119 47.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases NFATC2 4773 genome.wustl.edu 37 20 50139979 50139979 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_173091.2 -1 reviewed p.A267 1.000 41 0% 20 65% 2 0% - - - NULL MRAP 56246 genome.wustl.edu 37 21 33684268 33684268 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_178817.3 +1 reviewed p.E160 0.001 63 0% 29 48.3% 1 0% - - - NULL SYNJ1 8867 genome.wustl.edu 37 21 34042665 34042665 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003895.3 -1 validated p.T582A 0.998 114 0.9% 72 20.8% 0 - benign(0.006) tolerated(0.69) neutral(0.002) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like KCNE1 3753 genome.wustl.edu 37 21 35821900 35821900 + Frame_Shift_Del DEL G G - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000219.3 -1 reviewed p.L13fs 0.001 - - - - - - - - - HMMPfam_ISK_Channel DOPEY2 9980 genome.wustl.edu 37 21 37602856 37602856 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_005128.2 +1 validated p.G592W 1.000 262 0% 85 50.6% 2 0% possibly_damaging(0.646) tolerated(0.07) deleterious(0.545) NULL DSCAM 1826 genome.wustl.edu 37 21 41550865 41550865 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001389.3 -1 validated p.A979V 0.999 71 0% 26 46.2% 0 - benign(0.001) deleterious(0) neutral(0.445) superfamily_Fibronectin type III PRDM15 63977 genome.wustl.edu 37 21 43241454 43241454 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_022115.3 -1 validated p.R1043C 1.000 69 0% 48 45.8% 1 0% unknown(0) deleterious(0) - superfamily_SSF57667 FAM207A 85395 genome.wustl.edu 37 21 46363697 46363697 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_058190.2 +1 predicted p.S76 0.002 25 0% 13 53.8% 93 36.5% - - - NULL DGCR8 54487 genome.wustl.edu 37 22 20073663 20073663 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_022720.5 +1 validated p.S59 1.000 42 0% 47 34% 13 15.3% - - - NULL MED15 51586 genome.wustl.edu 37 22 20920922 20920922 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001003891.1 +1 reviewed p.P287S 1.000 50 0% 32 18.8% 102 33.3% unknown(0) - - NULL SMARCB1 6598 genome.wustl.edu 37 22 24159109 24159109 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003073.3 +1 reviewed p.R261C 1.000 171 0% 126 16.7% 173 5.2% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_SNF5 SNRPD3 6634 genome.wustl.edu 37 22 24964111 24964111 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004175.3 +1 reviewed p.G96S 0.998 249 0% 81 49.4% 187 53.4% possibly_damaging(0.496) deleterious(0.04) deleterious(0.514) superfamily_Sm-like ribonucleoproteins NEFH 4744 genome.wustl.edu 37 22 29885828 29885828 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021076.3 +1 reviewed p.P733 0.121 429 1.2% 286 15% 0 - - - - NULL MYH9 4627 genome.wustl.edu 37 22 36716343 36716343 + Missense_Mutation SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002473.4 -1 reviewed p.G312W 1.000 60 0% 31 16.1% 204 5.3% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases SUN2 25777 genome.wustl.edu 37 22 39132347 39132347 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015374.1 -1 validated p.R693 0.987 27 0% 15 60% 103 51.4% - - - HMMPfam_Sad1_UNC SUN2 25777 genome.wustl.edu 37 22 39146966 39146966 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015374.1 -1 validated p.R121C 0.001 11 0% 13 53.8% 41 48.7% possibly_damaging(0.598) deleterious(0.03) deleterious(0.572) NULL RPL3 6122 genome.wustl.edu 37 22 39710719 39710719 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000967.3 -1 reviewed p.Y274C 1.000 27 0% 25 32% 8026 8.3% possibly_damaging(0.607) deleterious(0.02) deleterious(0.594) HMMPfam_Ribosomal_L3,superfamily_Translat_factor TAB1 10454 genome.wustl.edu 37 22 39815598 39815598 + Frame_Shift_Del DEL A A - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006116.2 +1 reviewed p.K247fs 1.000 - - - - - - - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C MOV10L1 54456 genome.wustl.edu 37 22 50553599 50553599 + Nonsense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_018995.2 +1 reviewed p.Q395* 0.023 183 0% 92 38% 0 - - - - NULL ARSE 415 genome.wustl.edu 37 X 2856148 2856148 + Missense_Mutation SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000047.2 -1 reviewed p.V426A 0.975 140 0% 76 11.8% 3 0% benign(0.123) tolerated(0.23) neutral(0.052) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSF 416 genome.wustl.edu 37 X 3028181 3028181 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004042.3 +1 reviewed p.G426 0.190 114 0% 72 47.2% 0 - - - - HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like WWC3 55841 genome.wustl.edu 37 X 10062228 10062228 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_015691.3 +1 validated p.L188 0.000 387 0% 184 12.5% 5 0% - - - NULL SH3KBP1 30011 genome.wustl.edu 37 X 19560129 19560129 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_031892.2 -1 reviewed p.A602 0.535 167 0% 63 34.9% 9 77.7% - - - NULL CXorf23 256643 genome.wustl.edu 37 X 19948035 19948035 + Nonsense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_198279.3 -1 validated p.C629* 0.160 812 0% 462 19.3% 2 0% - - - NULL NR0B1 190 genome.wustl.edu 37 X 30322856 30322856 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_000475.4 -1 reviewed p.T418M 0.878 260 0% 188 11.7% 0 - benign(0.079) tolerated(0.29) neutral(0.035) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain CXorf21 80231 genome.wustl.edu 37 X 30578219 30578219 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_025159.2 -1 validated p.Q85R 0.114 464 0% 254 11.4% 0 - benign(0.049) tolerated(0.38) neutral(0.021) NULL CXorf38 159013 genome.wustl.edu 37 X 40496266 40496266 + Missense_Mutation SNP A A T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_144970.2 -1 validated p.I205K 1.000 104 1% 75 29.3% 5 40% probably_damaging(0.958) tolerated(0.99) neutral(0.402) NULL MED14 9282 genome.wustl.edu 37 X 40513706 40513706 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004229.3 -1 reviewed p.I1401V 1.000 360 0% 217 12.4% 10 20% benign(0.003) tolerated(0.55) neutral(0.007) NULL USP9X 8239 genome.wustl.edu 37 X 41055854 41055855 + Frame_Shift_Del DEL AG AG - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001039590.2 +1 reviewed p.R1368fs 0.999:1.000 - - - - - - - - - NULL CASK 8573 genome.wustl.edu 37 X 41419048 41419048 + Missense_Mutation SNP T T C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003688.3 -1 reviewed p.Q574R 1.000 69 0% 54 24.1% 10 0% benign(0.332) tolerated(0.53) neutral(0.111) superfamily_SH3,superfamily_PDZ SLC38A5 92745 genome.wustl.edu 37 X 48320424 48320424 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_033518.2 -1 validated p.C247Y 1.000 177 0% 56 17.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aa_trans WDR13 64743 genome.wustl.edu 37 X 48458737 48458737 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017883.4 +1 reviewed p.R185Q 1.000 97 0% 51 9.8% 297 0% possibly_damaging(0.657) tolerated(0.28) neutral(0.263) HMMSmart_SM00320,superfamily_WD40 repeat-like WDR45 11152 genome.wustl.edu 37 X 48932827 48932827 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_007075.3 -1 reviewed p.R315H 0.998 79 0% 35 31.4% 116 0% possibly_damaging(0.824) tolerated(0.29) neutral(0.341) superfamily_WD40_like HUWE1 10075 genome.wustl.edu 37 X 53578035 53578035 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_031407.4 -1 reviewed p.R3071H 1.000 182 0% 122 34.4% 29 100% probably_damaging(0.973) deleterious(0.02) deleterious(0.798) NULL FGD1 2245 genome.wustl.edu 37 X 54492141 54492141 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004463.2 -1 reviewed p.I495 1.000 134 0% 97 12.4% 3 0% - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain MAGEH1 28986 genome.wustl.edu 37 X 55479212 55479212 + Silent SNP C C A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_014061.3 +1 reviewed p.I135 0.021 161 0% 67 40.3% 4 0% - - - HMMPfam_MAGE TAF1 6872 genome.wustl.edu 37 X 70607239 70607239 + Silent SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004606.3 +1 reviewed p.Q805 1.000 522 0% 232 12.9% 2 50% - - - NULL TAF1 6872 genome.wustl.edu 37 X 70608190 70608190 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004606.3 +1 reviewed p.R864Q 1.000 529 0.2% 255 40.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAF1 6872 genome.wustl.edu 37 X 70617187 70617187 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004606.3 +1 reviewed p.R1184H 0.995 285 0% 157 49% 9 100% probably_damaging(0.992) tolerated(0.07) deleterious(0.766) NULL OGT 8473 genome.wustl.edu 37 X 70787446 70787446 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_181672.2 +1 reviewed p.P896S 0.997 132 0% 72 47.2% 39 0% probably_damaging(0.994) tolerated(0.92) neutral(0.452) NULL MIR374A 442919 genome.wustl.edu 37 X 73507125 73507125 + RNA SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a ENST00000362298 -1 known NULL 0.974 396 0.3% 303 15.8% 0 - - - - - CYLC1 1538 genome.wustl.edu 37 X 83128320 83128320 + Missense_Mutation SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021118.1 +1 provisional p.D202Y 0.000 313 0% 218 17% 0 - unknown(0) tolerated(0.22) - NULL CPXCR1 53336 genome.wustl.edu 37 X 88008595 88008595 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_033048.5 +1 validated p.E60 0.005 207 0% 139 10.1% 0 - - - - NULL DIAPH2 1730 genome.wustl.edu 37 X 96354692 96354692 + Splice_Site SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_006729.4 +1 reviewed e20-1 1.000 177 0.6% 84 46.4% 0 - - - - - CLDN2 9075 genome.wustl.edu 37 X 106171872 106171872 + Missense_Mutation SNP G G C novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_020384.3 +1 reviewed p.W138C 1.000 475 0% 332 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMP22_Claudin TMEM164 84187 genome.wustl.edu 37 X 109247174 109247174 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_032227.3 +1 validated p.R58W 1.000 116 0% 67 14.9% 2 50% benign(0.002) tolerated(0.07) neutral(0.319) NULL AMOT 154796 genome.wustl.edu 37 X 112024279 112024279 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001113490.1 -1 reviewed p.R770W 1.000 513 0% 214 44.9% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBE2A 7319 genome.wustl.edu 37 X 118715533 118715533 + Missense_Mutation SNP T T A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003336.2 +1 reviewed p.F72Y 1.000 323 0% 166 12.7% 44 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like CUL4B 8450 genome.wustl.edu 37 X 119668439 119668439 + Silent SNP A A G novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_003588.3 -1 reviewed p.G739 0.991 536 0% 373 20.4% 11 81.8% - - - HMMPfam_Cullin,superfamily_Cullin homology domain BCORL1 63035 genome.wustl.edu 37 X 129190003 129190003 + Silent SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_021946.3 +1 reviewed p.D1676 0.266 291 0% 150 52.7% 2 100% - - - NULL IGSF1 3547 genome.wustl.edu 37 X 130417102 130417102 + Silent SNP G G T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001555.4 -1 reviewed p.S268 0.586 404 0% 220 10.9% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin GPC3 2719 genome.wustl.edu 37 X 132833930 132833930 + Missense_Mutation SNP G G C rs122453121 TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_004484.3 -1 reviewed p.R387G 1.000 282 0% 204 49.5% 0 - probably_damaging(0.971) deleterious(0.02) deleterious(0.796) HMMPfam_Glypican RBMX 27316 genome.wustl.edu 37 X 135961586 135961589 + Frame_Shift_Del DEL TGTT TGTT - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_002139.3 -1 reviewed p.M1fs 1.000 - - - - - - - - - NULL PASD1 139135 genome.wustl.edu 37 X 150832669 150832669 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_173493.2 +1 reviewed p.S307L 0.000 208 0% 144 18.8% 0 - possibly_damaging(0.873) deleterious(0.01) deleterious(0.745) NULL NSDHL 50814 genome.wustl.edu 37 X 152031269 152031269 + Splice_Site SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001129765.1 +1 reviewed e4+1 0.994 280 0% 158 15.8% 0 - - - - - ATP2B3 492 genome.wustl.edu 37 X 152821586 152821586 + Frame_Shift_Del DEL G G - novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_001001344.2 +1 reviewed p.A714fs 1.000 - - - - - - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M TKTL1 8277 genome.wustl.edu 37 X 153553701 153553701 + Missense_Mutation SNP G G A novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_012253.3 +1 validated p.R445Q 0.998 330 0% 202 17.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) PLXNA3 55558 genome.wustl.edu 37 X 153700940 153700940 + Missense_Mutation SNP C C T novel TCGA-AX-A060-01A-11W-A027-09 TCGA-AX-A060-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d1b091bd-9b28-4f08-9997-e03d3353cdc1 b6d48898-2d90-4bd4-b684-405d4d1f421a NM_017514.3 +1 reviewed p.T1843M 0.703 139 0% 82 12.2% 15 0% possibly_damaging(0.943) tolerated(0.11) deleterious(0.659) NULL